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G |
AKT3 |
AKT serine/threonine kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729223 |
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NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
|
NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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G |
FOXC1 |
forkhead box C1 |
|
ISO |
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RGD |
PMID:20976766 |
RGD:12904052 |
NCBI chr 6:1,429,051...1,433,180
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G |
FOXP1 |
forkhead box P1 |
|
ISO |
protein:altered expression:neocortex (human) |
RGD |
PMID:22759905 |
RGD:11560525 |
NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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G |
HCN1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
|
ISO |
protein:decreased expression:neocortex: |
RGD |
PMID:20618401 |
RGD:9686432 |
NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
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G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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G |
KIF2A |
kinesin family member 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
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G |
KIF5C |
kinesin family member 5C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
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G |
KIFBP |
kinesin family binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15883926 |
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NCBI chr10:65,455,924...65,484,140
Ensembl chr10:67,989,492...68,017,898
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G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729223 |
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NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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G |
NDST1 |
N-deacetylase and N-sulfotransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16020517 |
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NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729223 |
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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G |
SLC1A1 |
solute carrier family 1 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11906504 |
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NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337
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G |
TBCD |
tubulin folding cofactor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 |
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NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223
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G |
TBR1 |
T-box brain transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Cortical dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr2B:48,709,687...48,719,382
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G |
TSC1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Cortical dysplasia |
ClinVar |
PMID:10227394 PMID:10570911 PMID:15798777 PMID:17304050 PMID:23341583 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28968464 More...
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NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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G |
TUBG1 |
tubulin gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
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G |
WDR62 |
WD repeat domain 62 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23341463 |
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NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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G |
ANKRD28 |
ankyrin repeat domain 28 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647
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G |
BTD |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
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G |
C2H3orf20 |
chromosome 2 C3orf20 homolog |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701
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G |
CAPN7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528
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G |
CCDC174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261
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G |
CHCHD4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660
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G |
COLQ |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299
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G |
DAZL |
deleted in azoospermia like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963
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G |
DPH3 |
diphthamide biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196
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G |
EAF1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300
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G |
EFHB |
EF-hand domain family member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718
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G |
FBLN2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332
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G |
FGD5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608
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G |
GALNT15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038
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G |
GRIP2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952
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G |
HACL1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982
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G |
HDAC11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997
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G |
KAT2B |
lysine acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
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G |
KCNH8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890
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G |
LSM3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726
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G |
METTL6 |
methyltransferase 6, tRNA N3-cytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238
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G |
MRPS25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594
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G |
NR2C2 |
nuclear receptor subfamily 2 group C member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242
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G |
NUP210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011
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G |
OXNAD1 |
oxidoreductase NAD binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621
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G |
PLCL2 |
phospholipase C like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287
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G |
PP2D1 |
protein phosphatase 2C like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322
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G |
RAB5A |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579
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G |
RBSN |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361
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G |
RFTN1 |
raftlin, lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464
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G |
SATB1 |
SATB homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211
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G |
SETD5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
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G |
SH3BP5 |
SH3 domain binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971
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G |
SLC6A6 |
solute carrier family 6 member 6 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326
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G |
TBC1D5 |
TBC1 domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132
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G |
THUMPD3 |
THUMP domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157
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G |
TMEM43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
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G |
WNT7A |
Wnt family member 7A |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
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G |
XPC |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
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G |
DCX |
doublecortin |
|
ISO |
ClinVar Annotator: match by term: Abnormal cortical gyration |
ClinVar |
PMID:18414213 |
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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G |
PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Abnormal cortical gyration |
ClinVar |
PMID:25741868 |
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NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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G |
DCPS |
decapping enzyme, scavenger |
|
ISO |
ClinVar Annotator: match by term: Al-Raqad syndrome |
OMIM ClinVar |
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 |
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NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807
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G |
SLC25A19 |
solute carrier family 25 member 19 |
|
ISO |
ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) |
OMIM ClinVar |
PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
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G |
KAT6A |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition |
OMIM ClinVar |
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 PMID:30245513 PMID:31292255 PMID:32041641 PMID:33318932 PMID:34748993 PMID:35892268 More...
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|
NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
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G |
ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
|
ISO |
ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency |
OMIM ClinVar |
PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 PMID:27469131 PMID:27522229 PMID:27711071 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29302074 PMID:29375865 PMID:29405484 PMID:30057589 PMID:30214071 PMID:30978478 PMID:31130284 PMID:32255274 PMID:32741967 PMID:32906196 PMID:33258288 PMID:33287870 PMID:34490615 PMID:34582790 PMID:34906502 PMID:35469797 PMID:36344539 PMID:36374791 More...
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|
NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 |
OMIM ClinVar |
PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21076407 PMID:22368300 PMID:23603762 PMID:23664119 PMID:24033266 PMID:24136616 PMID:25140959 PMID:25326635 PMID:25326637 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25590979 PMID:25609763 PMID:25700176 PMID:25741868 PMID:25741869 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26392352 PMID:26467025 PMID:27331017 PMID:27549087 PMID:27754416 PMID:28135719 PMID:28196890 PMID:28492532 PMID:28554554 PMID:28602352 PMID:29286531 PMID:29314763 PMID:29671837 PMID:29706646 PMID:30369941 PMID:30687093 PMID:32238909 PMID:32656949 PMID:35099838 More...
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|
NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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G |
HIVEP2 |
HIVEP zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:140,518,954...140,712,849
Ensembl chr 6:145,240,914...145,328,850
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G |
TRIO |
trio Rho guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition |
OMIM ClinVar |
PMID:22495306 PMID:25363768 PMID:25741868 PMID:27418539 PMID:28191890 PMID:28492532 PMID:28796471 PMID:28928363 PMID:28973398 PMID:32109419 PMID:36987741 More...
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NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124
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G |
CRADD |
CASP2 and RIPK1 domain containing adaptor with death domain |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY |
OMIM ClinVar |
PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 |
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NCBI chr12:91,220,813...91,593,799
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G |
PIDD1 |
p53-induced death domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 PMID:33414379 PMID:34163010 More...
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NCBI chr11:816,629...827,295
Ensembl chr11:860,899...867,436
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G |
EGFR |
epidermal growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
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NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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G |
KLLN |
killin, p53 regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 PMID:21417916 PMID:21532617 PMID:24033266 PMID:25669429 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
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NCBI chr10:84,581,971...84,587,420
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22729222 PMID:23946963 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29446767 PMID:34496175 More...
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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G |
PTEN |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 |
OMIM ClinVar |
PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 PMID:7728760 PMID:8071972 PMID:8673088 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9288766 PMID:9326929 PMID:9356475 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9619835 PMID:9685848 PMID:9735393 PMID:9740666 PMID:9788441 PMID:9794233 PMID:9811831 PMID:9832031 PMID:9832032 PMID:9856571 PMID:9915974 PMID:10051603 PMID:10076877 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10554022 PMID:10555148 PMID:10606430 PMID:10698513 PMID:10698713 PMID:10749983 PMID:10772390 PMID:10772829 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10866658 PMID:10920277 PMID:10923032 PMID:10978354 PMID:11035045 PMID:11051241 PMID:11052475 PMID:11071384 PMID:11156408 PMID:11234884 PMID:11238682 PMID:11274365 PMID:11332402 PMID:11448956 PMID:11476841 PMID:11504908 PMID:11668501 PMID:11685670 PMID:11748304 PMID:11875759 PMID:11886535 PMID:11918710 PMID:11948419 PMID:12015762 PMID:12075083 PMID:12085208 PMID:12208743 PMID:12297295 PMID:12372056 PMID:12414663 PMID:12471211 PMID:12614768 PMID:12808147 PMID:12833416 PMID:12844284 PMID:12938083 PMID:14518070 PMID:14566704 PMID:14623110 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15355975 PMID:15372512 PMID:15492994 PMID:15531530 PMID:15647370 PMID:15659546 PMID:15805158 PMID:16007494 PMID:16014636 PMID:16021145 PMID:16199547 PMID:16506206 PMID:16619501 PMID:16704655 PMID:16752378 PMID:16773562 PMID:16894538 PMID:16952599 PMID:17043057 PMID:17167516 PMID:17213812 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17427195 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873119 PMID:17873882 PMID:17898811 PMID:17928923 PMID:17941496 PMID:17942903 PMID:17954274 PMID:18025323 PMID:18080326 PMID:18558293 PMID:18594467 PMID:18626099 PMID:18725974 PMID:18757403 PMID:18767981 PMID:18781614 PMID:18986487 PMID:19190598 PMID:19265751 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19622968 PMID:19829307 PMID:19903786 PMID:19968660 PMID:20018398 PMID:20049735 PMID:20085938 PMID:20194734 PMID:20223021 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20533527 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20712882 PMID:20718038 PMID:20785012 PMID:20881644 PMID:20926450 PMID:20962022 PMID:21103832 PMID:21190448 PMID:21194675 PMID:21291452 PMID:21333374 PMID:21343951 PMID:21417916 PMID:21475810 PMID:21532617 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22005521 PMID:22076652 PMID:22162582 PMID:22162589 PMID:22261759 PMID:22266152 PMID:22281088 PMID:22320991 PMID:22327138 PMID:22371648 PMID:22381246 PMID:22413754 PMID:22469695 PMID:22479427 PMID:22491738 PMID:22503188 PMID:22505997 PMID:22520842 PMID:22536362 PMID:22558107 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22911484 PMID:22962422 PMID:22970944 PMID:23066114 PMID:23117110 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23382303 PMID:23399955 PMID:23423780 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23613428 PMID:23633456 PMID:23695273 PMID:23757202 PMID:23764071 PMID:23825907 PMID:23886400 PMID:23930209 PMID:23934111 PMID:23934601 PMID:24022303 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24123798 PMID:24136893 PMID:24292679 PMID:24345843 PMID:24375884 PMID:24379037 PMID:24404930 PMID:24468202 PMID:24498881 PMID:24721394 PMID:24728327 PMID:24744697 PMID:24763289 PMID:24766807 PMID:24778394 PMID:24901346 PMID:24905788 PMID:25132236 PMID:25148578 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25336918 PMID:25418537 PMID:25437057 PMID:25448482 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25980754 PMID:26076150 PMID:26082588 PMID:26099045 PMID:26124082 PMID:26157835 PMID:26229595 PMID:26246517 PMID:26302789 PMID:26376867 PMID:26418532 PMID:26467025 PMID:26468640 PMID:26492180 PMID:26504226 PMID:26517354 PMID:26534844 PMID:26572169 PMID:26579216 PMID:26580448 PMID:26619011 PMID:26633542 PMID:26637798 PMID:26665196 PMID:26681312 PMID:26773036 PMID:26787237 PMID:26795104 PMID:26798346 PMID:26800850 PMID:26845104 PMID:26898890 PMID:26919320 PMID:27157322 PMID:27324988 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27481051 PMID:27489861 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27878467 PMID:27884173 PMID:27959697 PMID:27978560 PMID:28008555 PMID:28013114 PMID:28086757 PMID:28135145 PMID:28235761 PMID:28251007 PMID:28263302 PMID:28263967 PMID:28286253 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28497778 PMID:28523199 PMID:28526761 PMID:28600779 PMID:28655553 PMID:28677221 PMID:28724667 PMID:28774669 PMID:28873162 PMID:29043291 PMID:29273943 PMID:29282348 PMID:29296277 PMID:29359449 PMID:29371908 PMID:29373119 PMID:29444762 PMID:29496690 PMID:29510612 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29720545 PMID:29752200 PMID:29758562 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29927861 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311369 PMID:30311380 PMID:30327747 PMID:30443844 PMID:30482242 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30720243 PMID:30809968 PMID:31006514 PMID:31079897 PMID:31144778 PMID:31149344 PMID:31159747 PMID:31199785 PMID:31209962 PMID:31220904 PMID:31336731 PMID:31567591 PMID:31594918 PMID:31664961 PMID:31970404 PMID:32003824 PMID:32123317 PMID:32150788 PMID:32162695 PMID:32185379 PMID:32190315 PMID:32196895 PMID:32238909 PMID:32295079 PMID:32350270 PMID:32366478 PMID:32378608 PMID:32442409 PMID:32461083 PMID:32461654 PMID:32664367 PMID:32670512 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33482532 PMID:33600059 PMID:33723755 PMID:33876391 PMID:33887726 PMID:34184188 PMID:34268892 PMID:34308366 PMID:34386506 PMID:34518631 PMID:34625746 PMID:34906515 PMID:35227301 PMID:35241692 PMID:35264596 PMID:35931053 PMID:36988593 PMID:37090027 PMID:37819013 More...
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 PMID:25694510 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30152102 More...
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NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
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G |
ACTB |
actin beta |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome |
ClinVar |
PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26467025 PMID:26583190 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:32170967 PMID:33446253 PMID:35005077 More...
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G |
ACTG1 |
actin gamma 1 |
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ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome |
ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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G |
ACTB |
actin beta |
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ISO |
ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation |
OMIM ClinVar |
PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29261186 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:35005077 PMID:35182466 PMID:35313204 PMID:35401677 More...
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G |
ACTG1 |
actin gamma 1 |
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ISO |
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME |
ClinVar |
PMID:31231230 PMID:32028042 |
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NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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G |
ACTG1 |
actin gamma 1 |
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ISO |
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 |
OMIM ClinVar |
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19548389 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26188271 PMID:26467025 PMID:27240540 PMID:27625340 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29986705 PMID:30008475 PMID:30143558 PMID:30622556 PMID:32341388 PMID:33584783 PMID:33604570 More...
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NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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G |
COPB1 |
COPI coat complex subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Baralle-Macken syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33632302 |
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NCBI chr11:14,560,239...14,602,557
Ensembl chr11:14,251,699...14,293,850
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G |
MED25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 More...
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NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
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G |
FBN1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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G |
THOC6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations | ClinVar Annotator: match by term: THOC6-related condition |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:28492532 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 More...
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NCBI chr16:1,965,875...1,969,595
Ensembl chr16:3,138,229...3,141,876
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G |
ADGRG1 |
adhesion G protein-coupled receptor G1 |
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ISO |
ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria |
OMIM ClinVar |
PMID:15044805 PMID:18414213 PMID:19016831 PMID:20929962 PMID:21349848 PMID:21723461 PMID:22238662 PMID:24033266 PMID:24949629 PMID:25642806 PMID:25741868 PMID:25922261 PMID:26467025 PMID:27657451 PMID:28097321 PMID:28424266 PMID:28492532 PMID:29707406 PMID:30511534 PMID:34513772 More...
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NCBI chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221
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G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital |
OMIM ClinVar |
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24598713 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29468183 PMID:29518270 PMID:30373780 PMID:30740813 PMID:30792901 PMID:31313076 PMID:32022442 PMID:32376792 PMID:32385536 More...
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NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
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G |
ADGRG1 |
adhesion G protein-coupled receptor G1 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221
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G |
CCND2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29642246 |
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NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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G |
DDX23 |
DEAD-box helicase 23 |
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ISO |
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:39,896,354...39,917,195
Ensembl chr12:40,774,975...40,796,466
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G |
NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:115,486,422...115,521,317
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome |
ClinVar |
PMID:25741868 PMID:32515017 |
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NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29529044 |
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Ensembl chr 4:6,345,864...6,379,287
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G |
AAGAB |
alpha and gamma adaptin binding protein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
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G |
ABHD17C |
abhydrolase domain containing 17C, depalmitoylase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:59,676,295...59,736,771
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G |
ABHD2 |
abhydrolase domain containing 2, acylglycerol lipase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:67,780,453...67,891,454
Ensembl chr15:86,987,070...87,095,818
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G |
ACAN |
aggrecan |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
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G |
ACSBG1 |
acyl-CoA synthetase bubblegum family member 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,098,752...57,164,119
Ensembl chr15:76,064,937...76,128,835
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G |
ADAL |
adenosine deaminase like |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,291,939...22,315,830
Ensembl chr15:40,451,403...40,468,241
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G |
ADAM10 |
ADAM metallopeptidase domain 10 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,562,930...37,717,175
Ensembl chr15:55,873,606...56,027,188
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G |
ADAMTS7 |
ADAM metallopeptidase with thrombospondin type 1 motif 7 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:61,291,451...61,295,148
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G |
ADAMTSL3 |
ADAMTS like 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:61,567,731...61,953,255
Ensembl chr15:81,538,868...81,920,292
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G |
ADPGK |
ADP dependent glucokinase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444
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G |
AEN |
apoptosis enhancing nuclease |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:67,237,871...67,321,808
Ensembl chr15:86,518,204...86,529,579
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G |
AFG2B |
AFG2 AAA ATPase homolog B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:24,350,226...24,369,308
Ensembl chr15:42,681,127...42,699,801
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G |
AGBL1 |
AGBL carboxypeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:64,774,408...65,603,628
Ensembl chr15:84,048,348...84,938,150
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G |
AKAP13 |
A-kinase anchoring protein 13 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:64,076,422...64,438,109
Ensembl chr15:83,387,667...83,651,362
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G |
ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168
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G |
ALPK3 |
alpha kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:63,484,027...63,541,021
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G |
ANKDD1A |
ankyrin repeat and death domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:43,851,575...43,898,578
Ensembl chr15:62,137,207...62,181,984
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G |
ANKRD34C |
ankyrin repeat domain 34C |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:58,246,752...58,267,478
Ensembl chr15:77,220,348...77,221,955
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G |
ANKRD63 |
ankyrin repeat domain 63 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,212,457...19,217,434
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G |
ANP32A |
acidic nuclear phosphoprotein 32 family member A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:47,736,770...47,778,763
Ensembl chr15:66,502,285...66,511,637
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G |
ANPEP |
alanyl aminopeptidase, membrane |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
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G |
ANXA2 |
annexin A2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
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G |
AP3B2 |
adaptor related protein complex 3 subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
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G |
AP3S2 |
adaptor related protein complex 3 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:68,524,982...68,583,917
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G |
AP4E1 |
adaptor related protein complex 4 subunit epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
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G |
APH1B |
aph-1 homolog B, gamma-secretase subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:42,224,593...42,256,202
Ensembl chr15:60,520,031...60,551,599
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G |
AQP9 |
aquaporin 9 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541
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G |
AQR |
aquarius intron-binding spliceosomal factor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:13,774,234...13,891,046
Ensembl chr15:32,036,653...32,149,157
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G |
ARID3B |
AT-rich interaction domain 3B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,482,870...53,542,063
Ensembl chr15:73,104,984...73,159,422
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G |
ARIH1 |
ariadne RBR E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:51,423,132...51,534,278
Ensembl chr15:70,187,722...70,297,226
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G |
ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:59,376,993...59,573,925
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G |
ARPIN |
actin related protein 2/3 complex inhibitor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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G |
ARPP19 |
cAMP regulated phosphoprotein 19 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,488,156...31,510,404
Ensembl chr15:49,813,447...49,835,051
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G |
ATOSA |
atos homolog A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,522,297...31,620,560
Ensembl chr15:49,848,026...49,944,808
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G |
ATP8B4 |
ATPase phospholipid transporting 8B4 (putative) |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:28,803,848...29,060,526
Ensembl chr15:47,129,277...47,389,559
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G |
AVEN |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:12,379,221...12,574,147
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G |
B2M |
beta-2-microglobulin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
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G |
BAHD1 |
bromo adjacent homology domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,376,233...19,404,699
Ensembl chr15:37,630,476...37,657,918
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G |
BBS4 |
Bardet-Biedl syndrome 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
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G |
BCL2A1 |
BCL2 related protein A1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:58,925,853...58,935,122
Ensembl chr15:77,882,940...77,893,628
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G |
BCL2L10 |
BCL2 like 10 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109
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G |
BLM |
BLM RecQ like helicase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome |
OMIM ClinVar |
PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 PMID:9536098 PMID:9758720 PMID:9837821 PMID:9840919 PMID:10069810 PMID:10090915 PMID:10569803 PMID:10734115 PMID:10812332 PMID:10965492 PMID:11281456 PMID:11399766 PMID:12242432 PMID:12444098 PMID:15579905 PMID:15609317 PMID:15930159 PMID:15990871 PMID:16199547 PMID:16876111 PMID:17407155 PMID:17576681 PMID:17878217 PMID:18414213 PMID:18471088 PMID:19763152 PMID:19917125 PMID:20301572 PMID:20307669 PMID:20639533 PMID:20980836 PMID:21113733 PMID:21815139 PMID:22406018 PMID:22582397 PMID:22657828 PMID:22829774 PMID:22885301 PMID:23028338 PMID:23129629 PMID:23161009 PMID:23225144 PMID:23276657 PMID:23292937 PMID:23552953 PMID:23928670 PMID:23960188 PMID:24033266 PMID:24096176 PMID:24118499 PMID:24448499 PMID:24728327 PMID:24733792 PMID:24816114 PMID:24932421 PMID:25111073 PMID:25129257 PMID:25182961 PMID:25186949 PMID:25231023 PMID:25399228 PMID:25525159 PMID:25619955 PMID:25637381 PMID:25640679 PMID:25653542 PMID:25741868 PMID:25741877 PMID:25794620 PMID:25850943 PMID:25901030 PMID:25940061 PMID:26028025 PMID:26247052 PMID:26296701 PMID:26340805 PMID:26358404 PMID:26467025 PMID:26503572 PMID:26556299 PMID:26580448 PMID:26585945 PMID:26681682 PMID:26689913 PMID:26786923 PMID:26788541 PMID:26822949 PMID:26979391 PMID:27124789 PMID:27153395 PMID:27175728 PMID:27270107 PMID:27356891 PMID:27516001 PMID:27657136 PMID:27876123 PMID:27959697 PMID:28125078 PMID:28195393 PMID:28232778 PMID:28464862 PMID:28492532 PMID:28611551 PMID:28724667 PMID:28805986 PMID:28832562 PMID:28873162 PMID:28877996 PMID:28944238 PMID:29098565 PMID:29212164 PMID:29338689 PMID:29439820 PMID:29453417 PMID:29478780 PMID:29484706 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29753700 PMID:29785153 PMID:29970176 PMID:30044990 PMID:30082870 PMID:30138938 PMID:30152102 PMID:30214071 PMID:30214240 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30441849 PMID:30502717 PMID:30541756 PMID:30613976 PMID:30666157 PMID:30840646 PMID:30871259 PMID:30995915 PMID:31118792 PMID:31159747 PMID:31212687 PMID:31218271 PMID:31253795 PMID:31263571 PMID:31360874 PMID:31562900 PMID:31589614 PMID:31681265 PMID:31780696 PMID:31816118 PMID:31844177 PMID:31937788 PMID:31942411 PMID:31956452 PMID:31970404 PMID:32029870 PMID:32073752 PMID:32107087 PMID:32283892 PMID:32449991 PMID:32566746 PMID:32595206 PMID:32704157 PMID:32860008 PMID:32868804 PMID:32923906 PMID:33073370 PMID:33077847 PMID:33193653 PMID:33318203 PMID:33332384 PMID:33436027 PMID:33528079 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33647232 PMID:33832920 PMID:34117267 PMID:34177791 PMID:34288589 PMID:34308104 PMID:34497584 PMID:34538859 PMID:34767783 PMID:35218564 PMID:35264596 PMID:35273153 PMID:35314707 PMID:35892882 PMID:35969835 PMID:36232793 PMID:36315097 PMID:37316882 More...
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NCBI chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
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G |
BLOC1S6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316
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G |
BMF |
Bcl2 modifying factor |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075
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G |
BNC1 |
basonuclin zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,316,229...62,345,123
Ensembl chr15:81,146,417...81,174,007
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G |
BNIP2 |
BCL2 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,628,798...38,659,161
Ensembl chr15:56,933,697...56,964,044
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G |
BTBD1 |
BTB domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,535,893...62,589,656
Ensembl chr15:80,904,436...80,957,494
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G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
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G |
C16H15orf39 |
chromosome 16 C15orf39 homolog |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,142,547...54,152,833
Ensembl chr15:73,753,921...73,767,224
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G |
C16H15orf40 |
chromosome 16 C15orf40 homolog |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,594,213...62,601,425
Ensembl chr15:80,879,368...80,899,648
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G |
C16H15orf48 |
chromosome 16 C15orf48 homolog |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:24,378,440...24,381,280
Ensembl chr15:42,709,122...42,727,209
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G |
C16H15orf61 |
chromosome 16 C15orf61 homolog |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:46,471,604...46,477,100
Ensembl chr15:64,740,039...64,746,144
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G |
C16H15orf62 |
chromosome 16 C15orf62 homolog |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,709,049...19,713,564
Ensembl chr15:37,963,669...37,964,196
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G |
C2CD4A |
C2 calcium dependent domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:41,020,652...41,031,100
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G |
C2CD4B |
C2 calcium dependent domain containing 4B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:41,113,568...41,125,725
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G |
CA12 |
carbonic anhydrase 12 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
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G |
CALML4 |
calmodulin like 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:47,140,272...47,155,700
Ensembl chr15:65,409,732...65,424,852
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G |
CATSPER2 |
cation channel sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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Ensembl chr15:40,769,539...40,795,723
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G |
CCDC32 |
coiled-coil domain containing 32 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,466,344...19,510,553
Ensembl chr15:37,726,474...37,763,602
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G |
CCDC33 |
coiled-coil domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,158,057...53,278,500
Ensembl chr15:72,800,067...72,899,576 Ensembl chr15:72,800,067...72,899,576
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G |
CCDC9B |
coiled-coil domain containing 9B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,265,502...19,275,023
Ensembl chr15:37,520,475...37,529,968
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G |
CCNB2 |
cyclin B2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,075,106...38,095,699
Ensembl chr15:56,382,391...56,402,299
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G |
CCNDBP1 |
cyclin D1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,146,561...22,156,570
Ensembl chr15:40,301,401...40,311,443
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G |
CCPG1 |
cell cycle progression 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880
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G |
CD276 |
CD276 molecule |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:52,594,719...52,625,047
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G |
CDAN1 |
codanin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,684,234...21,697,840
Ensembl chr15:39,838,604...39,851,562
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G |
CDIN1 |
CDAN1 interacting nuclease 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:15,503,685...15,734,015
Ensembl chr15:33,762,079...33,990,777
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G |
CEMIP |
cell migration inducing hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:59,760,481...59,932,698
Ensembl chr15:78,810,600...78,888,723
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G |
CEP152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
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G |
CFAP161 |
cilia and flagella associated protein 161 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:60,113,489...60,134,987
Ensembl chr15:79,075,432...79,090,283
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G |
CGNL1 |
cingulin like 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,344,222...36,518,235
Ensembl chr15:54,669,190...54,831,595
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G |
CHAC1 |
ChaC glutathione specific gamma-glutamylcyclotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,895,554...19,898,672
Ensembl chr15:38,145,730...38,148,698
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G |
CHP1 |
calcineurin like EF-hand protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:20,172,874...20,223,382
Ensembl chr15:38,418,815...38,467,681
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G |
CHRM5 |
cholinergic receptor muscarinic 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:12,478,656...12,575,512
Ensembl chr15:31,406,198...31,407,796
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G |
CHRNA3 |
cholinergic receptor nicotinic alpha 3 subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
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G |
CHRNA5 |
cholinergic receptor nicotinic alpha 5 subunit |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
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G |
CHRNB4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
|
|
G |
CHST14 |
carbohydrate sulfotransferase 14 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622
|
|
G |
CIAO2A |
cytosolic iron-sulfur assembly component 2A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,025,577...43,047,013
Ensembl chr15:61,317,188...61,338,337
|
|
G |
CIB1 |
calcium and integrin binding 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,919,377...68,923,213
|
|
G |
CIB2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485
|
|
G |
CILP |
cartilage intermediate layer protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,142,312...44,159,395
Ensembl chr15:62,425,780...62,441,214
|
|
G |
CIMAP1C |
ciliary microtubule associated protein 1C |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571
|
|
G |
CLK3 |
CDC like kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,550,793...53,576,744
Ensembl chr15:73,181,664...73,196,148
|
|
G |
CLN6 |
CLN6 transmembrane ER protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
|
|
G |
CLPX |
caseinolytic mitochondrial matrix peptidase chaperone subunit X |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,088,070...44,128,730
Ensembl chr15:62,374,068...62,412,746
|
|
G |
COMMD4 |
COMM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531
|
|
G |
COPS2 |
COP9 signalosome subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,073,237...28,103,615
Ensembl chr15:46,396,077...46,426,396
|
|
G |
CORO2B |
coronin 2B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,536,641...47,685,357
Ensembl chr15:66,370,374...66,452,545
|
|
G |
CPEB1 |
cytoplasmic polyadenylation element binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948
|
|
G |
CPLX3 |
complexin 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,769,138...53,774,330
Ensembl chr15:73,386,826...73,391,991
|
|
G |
CRABP1 |
cellular retinoic acid binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311
|
|
G |
CRTC3 |
CREB regulated transcription coactivator 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,217,679...69,333,897
Ensembl chr15:88,427,468...88,533,593
|
|
G |
CSK |
C-terminal Src kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,724,814...53,745,710
Ensembl chr15:73,342,703...73,363,476
|
|
G |
CSNK1G1 |
casein kinase 1 gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,117,845...43,302,134
Ensembl chr15:61,410,414...61,594,180
|
|
G |
CSPG4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
|
|
G |
CTDSPL2 |
CTD small phosphatase like 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,384,416...23,483,508
Ensembl chr15:41,554,276...41,654,736
|
|
G |
CTSH |
cathepsin H |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
|
|
G |
CTXN2 |
cortexin 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,127,250...27,152,785
Ensembl chr15:45,474,588...45,474,833
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
|
|
G |
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
|
|
G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
|
|
G |
CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
|
|
G |
DAPK2 |
death associated protein kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,860,484...42,999,489
Ensembl chr15:61,152,553...61,284,990
|
|
G |
DENND4A |
DENN domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,600,897...44,734,150
Ensembl chr15:62,882,496...63,012,979
|
|
G |
DET1 |
DET1 partner of COP1 E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,203,101...67,238,185
Ensembl chr15:86,411,937...86,444,789
|
|
G |
DIS3L |
DIS3 like exosome 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,246,867...45,287,521
Ensembl chr15:63,523,512...63,563,813
|
|
G |
DISP2 |
dispatched RND transporter family member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,292,340...19,305,143
Ensembl chr15:37,548,049...37,559,623
|
|
G |
DLL4 |
delta like canonical Notch ligand 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
|
|
G |
DMXL2 |
Dmx like 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
|
|
G |
DNAAF4 |
dynein axonemal assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281
|
|
G |
DNAJA4 |
DnaJ heat shock protein family (Hsp40) member A4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,193,545...57,211,518
Ensembl chr15:76,158,155...76,176,089
|
|
G |
DNAJC17 |
DnaJ heat shock protein family (Hsp40) member C17 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,708,842...19,748,136
Ensembl chr15:37,960,965...37,999,674
|
|
G |
DPH6 |
diphthamine biosynthesis 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:14,293,746...14,469,331
Ensembl chr15:32,554,276...32,729,455
|
|
G |
DPP8 |
dipeptidyl peptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,385,877...44,461,092
Ensembl chr15:62,666,088...62,740,504
|
|
G |
DTWD1 |
DTW domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,578,698...28,602,840
Ensembl chr15:46,902,304...46,926,401
|
|
G |
DUOX1 |
dual oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,077,557...24,113,206
Ensembl chr15:42,431,595...42,467,943
|
|
G |
DUOX2 |
dual oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281
|
|
G |
DUOXA1 |
dual oxidase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,064,967...24,077,641
Ensembl chr15:42,418,234...42,430,749
|
|
G |
DUOXA2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974
|
|
G |
DUT |
deoxyuridine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,280,025...27,292,003
Ensembl chr15:45,603,807...45,616,022
|
|
G |
EDC3 |
enhancer of mRNA decapping 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,577,101...53,642,504
Ensembl chr15:73,196,823...73,262,214
|
|
G |
EFL1 |
elongation factor like GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:61,111,244...61,243,724
|
|
G |
EHD4 |
EH domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,840,517...20,926,900
Ensembl chr15:39,010,302...39,086,713
|
|
G |
EID1 |
EP300 interacting inhibitor of differentiation 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,827,790...27,829,493
|
|
G |
EIF2AK4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
|
|
G |
EIF3J |
eukaryotic translation initiation factor 3 subunit J |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,493,363...23,518,705
|
|
G |
ELL3 |
elongation factor for RNA polymerase II 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,732,742...22,737,522
Ensembl chr15:40,821,759...40,827,070
|
|
G |
EMC4 |
ER membrane protein complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,734,031...12,739,345
Ensembl chr15:31,568,622...31,573,547
|
|
G |
EMC7 |
ER membrane protein complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,593,498...12,611,409
Ensembl chr15:31,428,591...31,446,290
|
|
G |
EPB42 |
erythrocyte membrane protein band 4.2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
|
|
G |
ETFA |
electron transfer flavoprotein subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494
|
|
G |
EXD1 |
exonuclease 3'-5' domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,124,681...20,172,875
Ensembl chr15:38,373,481...38,418,179
|
|
G |
FAH |
fumarylacetoacetate hydrolase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
|
|
G |
FAM219B |
family with sequence similarity 219 member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,840,510...53,847,389
Ensembl chr15:73,457,762...73,464,661
|
|
G |
FAM227B |
family with sequence similarity 227 member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,454,626...28,578,566
Ensembl chr15:46,614,922...46,896,481
|
|
G |
FAM81A |
family with sequence similarity 81 member A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,408,682...38,493,751
Ensembl chr15:56,716,721...56,799,249
|
|
G |
FAM98B |
family with sequence similarity 98 member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:17,383,298...17,415,682
|
|
G |
FANCI |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
|
|
G |
FBN1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
|
|
G |
FBXL22 |
F-box and leucine rich repeat protein 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,543,909...42,548,938
Ensembl chr15:60,837,032...60,841,829
|
|
G |
FBXO22 |
F-box protein 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,817,076...54,849,271
Ensembl chr15:74,410,213...74,441,609
|
|
G |
FEM1B |
fem-1 homolog B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,236,920...47,254,878
Ensembl chr15:66,005,614...66,024,007
|
|
G |
FES |
FES proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
|
|
G |
FGF7 |
fibroblast growth factor 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
|
|
G |
FOXB1 |
forkhead box B1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,979,727...38,983,040
Ensembl chr15:57,284,077...57,285,054
|
|
G |
FRMD5 |
FERM domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,830,850...23,161,693
Ensembl chr15:40,919,053...41,250,981
|
|
G |
FSD2 |
fibronectin type III and SPRY domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:62,790,477...62,842,838
Ensembl chr15:80,657,013...80,684,790
|
|
G |
FSIP1 |
fibrous sheath interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,540,424...18,722,868
|
|
G |
FURIN |
furin, paired basic amino acid cleaving enzyme |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023
|
|
G |
GABPB1 |
GA binding protein transcription factor subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,223,588...29,303,863
Ensembl chr15:47,547,202...47,600,234
|
|
G |
GALK2 |
galactokinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:28,103,719...28,278,718
Ensembl chr15:46,440,759...46,600,440
|
|
G |
GATM |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
|
|
G |
GCHFR |
GTP cyclohydrolase I feedback regulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,704,891...19,708,686
Ensembl chr15:37,957,109...37,960,973
|
|
G |
GCNT3 |
glucosaminyl (N-acetyl) transferase 3, mucin type |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,580,509...38,589,223
Ensembl chr15:56,892,716...56,894,032
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G |
GDPGP1 |
GDP-D-glucose phosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,923,301...68,931,353
Ensembl chr15:88,132,147...88,133,304
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G |
GJD2 |
gap junction protein delta 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:13,668,639...13,672,691
Ensembl chr15:31,928,157...31,931,474
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G |
GLCE |
glucuronic acid epimerase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:48,110,725...48,222,251
Ensembl chr15:66,979,271...66,995,646
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G |
GLDN |
gliomedin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,285,743...30,352,403
Ensembl chr15:48,619,452...48,685,616
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G |
GNB5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,061,310...31,122,427
Ensembl chr15:49,388,026...49,452,123
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G |
GOLGA6B |
golgin A6 family member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,553,289...51,584,844
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|
G |
GOLM2 |
golgi membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,248,227...23,372,928
Ensembl chr15:41,418,910...41,542,748
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G |
GPR176 |
G protein-coupled receptor 176 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,739,092...18,858,618
Ensembl chr15:36,995,149...37,007,073
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G |
GRAMD2A |
GRAM domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,111,249...51,148,379
Ensembl chr15:69,874,593...69,912,241
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G |
GREM1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:11,213,870...11,230,619
|
|
G |
GTF2A2 |
general transcription factor IIA subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,608,360...38,627,156
Ensembl chr15:56,913,452...56,932,052
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G |
HACD3 |
3-hydroxyacyl-CoA dehydratase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,473,542...44,520,885
Ensembl chr15:62,752,762...62,799,950
|
|
G |
HAPLN3 |
hyaluronan and proteoglycan link protein 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,565,957...67,584,352
Ensembl chr15:86,773,882...86,792,120
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|
G |
HAUS2 |
HAUS augmin like complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,510,173...21,531,733
Ensembl chr15:39,666,043...39,683,322
|
|
G |
HCN4 |
hyperpolarization activated cyclic nucleotide gated potassium channel 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
|
|
G |
HDC |
histidine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,188,296...29,212,327
Ensembl chr15:47,510,629...47,534,577
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|
G |
HDDC3 |
HD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,623,932...69,628,130
|
|
G |
HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
|
|
G |
HEXA |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688 Ensembl chr15:70,057,943...70,090,688
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|
G |
HMG20A |
high mobility group 20A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:56,348,298...56,413,106
Ensembl chr15:72,137,714...72,202,149
|
|
G |
HOMER2 |
homer scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:62,617,905...62,762,903
Ensembl chr15:80,737,570...80,784,729
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|
G |
HYKK |
hydroxylysine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,435,833...57,465,557
Ensembl chr15:76,400,131...76,428,844
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|
G |
HYPK |
huntingtin interacting protein K |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,760,593...22,762,059
Ensembl chr15:40,850,849...40,852,835
|
|
G |
ICE2 |
interactor of little elongation complex ELL subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,393,556...39,452,395
Ensembl chr15:57,695,137...57,754,285
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,078,588...57,099,934
Ensembl chr15:76,043,311...76,064,634
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|
G |
IGDCC3 |
immunoglobulin superfamily DCC subclass member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,272,875...44,324,328
Ensembl chr15:62,554,128...62,604,748
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|
G |
IGDCC4 |
immunoglobulin superfamily DCC subclass member 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,327,428...44,369,024
Ensembl chr15:62,608,243...62,642,881
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|
G |
IL16 |
interleukin 16 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861
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|
G |
IMP3 |
IMP U3 small nucleolar ribonucleoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710
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|
G |
INAFM2 |
InaF motif containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,224,767...19,290,520
|
|
G |
INO80 |
INO80 complex ATPase subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,920,980...20,058,117
Ensembl chr15:38,170,982...38,307,311
|
|
G |
INSYN1 |
inhibitory synaptic factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,650,196...52,663,270
Ensembl chr15:71,405,502...71,418,269
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|
G |
INTS14 |
integrator complex subunit 14 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,521,277...44,552,780
Ensembl chr15:62,800,351...62,831,946
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|
G |
IQCH |
IQ motif containing H |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
|
|
G |
IQGAP1 |
IQ motif containing GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,076,025...69,190,082
Ensembl chr15:88,276,851...88,388,594
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|
G |
IREB2 |
iron responsive element binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
|
|
G |
ISG20 |
interferon stimulated exonuclease gene 20 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,328,334...67,345,085
Ensembl chr15:86,536,647...86,553,751
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|
G |
ISL2 |
ISL LIM homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:55,250,837...55,257,775
Ensembl chr15:74,843,797...74,848,635
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|
G |
ISLR |
immunoglobulin superfamily containing leucine rich repeat |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,112,206...53,115,367
Ensembl chr15:72,736,331...72,737,617
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|
G |
ISLR2 |
immunoglobulin superfamily containing leucine rich repeat 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,066,685...53,075,324
|
|
G |
ITGA11 |
integrin subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,260,931...47,390,062
Ensembl chr15:66,031,201...66,128,985
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|
G |
ITPKA |
inositol-trisphosphate 3-kinase A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,434,532...20,444,389
Ensembl chr15:38,675,600...38,684,779
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|
G |
IVD |
isovaleryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
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|
G |
KATNBL1 |
katanin regulatory subunit B1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,650,139...12,719,655
Ensembl chr15:31,484,885...31,554,402
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|
G |
KBTBD13 |
kelch repeat and BTB domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,016,331...44,019,797
Ensembl chr15:62,300,878...62,302,254
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G |
KIF23 |
kinesin family member 23 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
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|
G |
KIF7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
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G |
KLHL25 |
kelch like family member 25 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:64,448,130...64,486,254
Ensembl chr15:83,670,090...83,671,859
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G |
KNL1 |
kinetochore scaffold 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
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G |
KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,316,854...19,328,425
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|
G |
LACTB |
lactamase beta |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,069,069...42,089,329
Ensembl chr15:60,365,427...60,385,179
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G |
LARP6 |
La ribonucleoprotein 6, translational regulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:49,781,184...49,803,856
Ensembl chr15:68,547,937...68,552,899
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G |
LCMT2 |
leucine carboxyl methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,288,992...22,291,814
Ensembl chr15:40,444,633...40,446,693
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G |
LCTL |
lactase like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,495,650...45,514,096
Ensembl chr15:63,769,946...63,787,409
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G |
LDHAL6B |
lactate dehydrogenase A like 6B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
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G |
LEO1 |
LEO1 homolog, Paf1/RNA polymerase II complex component |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,879,431...30,913,361
Ensembl chr15:49,208,132...49,241,055
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G |
LINC02694 |
long intergenic non-protein coding RNA 2694 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:17,625,792...17,629,200
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|
G |
LINGO1 |
leucine rich repeat and Ig domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:56,424,422...56,747,075
Ensembl chr15:72,328,079...72,347,016
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G |
LIPC |
lipase C, hepatic type |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
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G |
LMAN1L |
lectin, mannose binding 1 like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,754,682...53,768,324
Ensembl chr15:73,373,160...73,386,050
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|
G |
LOC100981651 |
chromosome 15 C15orf54 homolog |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:18,194,424...18,195,749
|
|
G |
LOC100984344 |
calpain-3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820 Ensembl chr15:39,476,302...39,528,820
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|
G |
LOC100987752 |
actin alpha cardiac muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782
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G |
LOC100988094 |
cytochrome c oxidase subunit 5A, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,860,721...53,878,699
|
|
G |
LOC100991599 |
creatine kinase U-type, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,654,349...22,660,890
|
|
G |
LOC117975990 |
golgin subfamily A member 8B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,895,442...12,917,196
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|
G |
LOC129392921 |
sodium/nucleoside cotransporter 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:63,551,499...63,613,461
Ensembl chr15:82,875,339...82,935,762 Ensembl chr15:82,875,339...82,935,762
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|
G |
LOXL1 |
lysyl oxidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,835,675...52,861,324
|
|
G |
LPCAT4 |
lysophosphatidylcholine acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,869,782...12,878,350
Ensembl chr15:31,704,297...31,712,779
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|
G |
LRRC49 |
leucine rich repeat containing 49 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:49,841,934...50,023,736
Ensembl chr15:68,589,175...68,769,334
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|
G |
LRRC57 |
leucine rich repeat containing 57 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,499,139...21,510,154
Ensembl chr15:39,659,387...39,666,068
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|
G |
LTK |
leukocyte receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,444,471...20,455,586
Ensembl chr15:38,685,255...38,695,381
|
|
G |
LYSMD2 |
LysM domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,661,922...30,690,653
|
|
G |
MAN2A2 |
mannosidase alpha class 2A member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,595,318...69,614,255
Ensembl chr15:88,795,543...88,810,497
|
|
G |
MAN2C1 |
mannosidase alpha class 2C member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704
|
|
G |
MAP1A |
microtubule associated protein 1A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,472,641...22,493,293
Ensembl chr15:40,627,099...40,647,752
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
|
|
G |
MAP2K5 |
mitogen-activated protein kinase kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
|
|
G |
MAPK6 |
mitogen-activated protein kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,946,218...31,007,987
Ensembl chr15:49,273,095...49,335,754
|
|
G |
MAPKBP1 |
mitogen-activated protein kinase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,713,859...20,768,224
|
|
G |
MEGF11 |
multiple EGF like domains 11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,836,750...45,208,674
Ensembl chr15:63,116,564...63,204,508
|
|
G |
MEIS2 |
Meis homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477
|
|
G |
MESD |
mesoderm development LRP chaperone |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:59,959,985...59,970,904
Ensembl chr15:78,914,991...78,926,612
|
|
G |
MESP1 |
mesoderm posterior bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210
|
|
G |
MESP2 |
mesoderm posterior bHLH transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,470,528...68,473,209
|
|
G |
MEX3B |
mex-3 RNA binding family member B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:61,025,026...61,029,324
Ensembl chr15:82,172,946...82,180,581
|
|
G |
MFAP1 |
microfibril associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,764,678...22,784,934
Ensembl chr15:40,856,392...40,875,376
|
|
G |
MFGE8 |
milk fat globule EGF and factor V/VIII domain containing |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,587,360...67,602,029
Ensembl chr15:86,795,135...86,809,876
|
|
G |
MGA |
MAX dimerization protein MGA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847
|
|
G |
MINAR1 |
membrane integral NOTCH2 associated receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:58,402,688...58,445,461
Ensembl chr15:77,361,433...77,402,124
|
|
G |
MINDY2 |
MINDY lysine 48 deubiquitinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:37,737,665...37,831,501
Ensembl chr15:56,047,970...56,134,203
|
|
G |
MNS1 |
meiosis specific nuclear structural 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:35,377,490...35,433,871
Ensembl chr15:53,714,110...53,750,050
|
|
G |
MORF4L1 |
mortality factor 4 like 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,844,220...57,869,139
Ensembl chr15:76,772,007...76,829,259
|
|
G |
MPI |
mannose phosphate isomerase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,832,088...53,841,832
Ensembl chr15:73,449,439...73,457,205
|
|
G |
MRPL46 |
mitochondrial ribosomal protein L46 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,151,616...67,159,521
Ensembl chr15:86,359,188...86,367,113
|
|
G |
MRPS11 |
mitochondrial ribosomal protein S11 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,159,746...67,172,891
Ensembl chr15:86,367,127...86,377,728
|
|
G |
MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
|
|
G |
MTHFS |
methenyltetrahydrofolate synthetase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206
|
|
G |
MYEF2 |
myelin expression factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,086,001...27,127,313
Ensembl chr15:45,412,593...45,443,600
|
|
G |
MYO1E |
myosin IE |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
|
|
G |
MYO5A |
myosin VA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319
|
|
G |
MYO5C |
myosin VC |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,133,566...31,235,074
Ensembl chr15:49,459,741...49,549,752
|
|
G |
MYO9A |
myosin IXA |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
|
|
G |
MYZAP |
myocardial zonula adherens protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:36,560,355...36,653,881
Ensembl chr15:54,873,644...54,997,202
|
|
G |
NDUFAF1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872
|
|
G |
NEDD4 |
NEDD4 E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,798,880...34,963,823
Ensembl chr15:53,118,411...53,283,076
|
|
G |
NEIL1 |
nei like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
|
|
G |
NEO1 |
neogenin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
|
|
G |
NGRN |
neugrin, neurite outgrowth associated |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,954,039...68,960,612
Ensembl chr15:88,156,109...88,162,659
|
|
G |
NMB |
neuromedin B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:63,322,869...63,326,989
|
|
G |
NOP10 |
NOP10 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305
|
|
G |
NOX5 |
NADPH oxidase 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,961,085...48,003,529
Ensembl chr15:66,734,521...66,777,037
|
|
G |
NPTN |
neuroplastin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,470,545...52,544,046
Ensembl chr15:71,229,992...71,269,579
|
|
G |
NR2E3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
|
|
G |
NRG4 |
neuregulin 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,849,104...54,972,379
Ensembl chr15:74,449,691...74,518,748
|
|
G |
NSMCE2 |
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase |
|
ISO |
OMIM:210900 |
MouseDO |
|
|
NCBI chr 8:121,777,986...122,052,094
Ensembl chr 8:124,529,268...124,803,114
|
|
G |
NTRK3 |
neurotrophic receptor tyrosine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204
|
|
G |
NUSAP1 |
nucleolar and spindle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695
|
|
G |
NUTM1 |
NUT midline carcinoma family member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,852,280...12,868,873
Ensembl chr15:31,686,443...31,703,128
|
|
G |
OAZ2 |
ornithine decarboxylase antizyme 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,629,712...43,645,426
Ensembl chr15:61,919,532...61,933,821
|
|
G |
OIP5 |
Opa interacting protein 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,250,339...20,273,856
Ensembl chr15:38,494,534...38,517,300
|
|
G |
ONECUT1 |
one cut homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,694,830...31,727,644
Ensembl chr15:50,016,010...50,053,062
|
|
G |
PAK6 |
p21 (RAC1) activated kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,173,171...19,211,572
Ensembl chr15:37,453,802...37,465,119
|
|
G |
PAK6-AS1 |
PAK6 antisense RNA 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,184,775...19,187,261
|
|
G |
PAQR5 |
progestin and adipoQ receptor family member 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:48,248,552...48,357,205
Ensembl chr15:67,082,077...67,127,765
|
|
G |
PARP16 |
poly(ADP-ribose) polymerase family member 16 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,163,785...44,231,895
Ensembl chr15:62,485,144...62,513,722
|
|
G |
PARP6 |
poly(ADP-ribose) polymerase family member 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,191,718...51,223,312
Ensembl chr15:69,955,568...69,987,061
|
|
G |
PATL2 |
PAT1 homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,622,330...23,667,962
Ensembl chr15:41,790,682...41,801,825
|
|
G |
PCLAF |
PCNA clamp associated factor |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,311,115...43,331,979
Ensembl chr15:61,602,830...61,617,303
|
|
G |
PDCD7 |
programmed cell death 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,057,667...44,073,812
|
|
G |
PDE8A |
phosphodiesterase 8A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:63,649,336...63,805,613
Ensembl chr15:82,971,986...83,127,957
|
|
G |
PDIA3 |
protein disulfide isomerase family A member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763
|
|
G |
PEAK1 |
pseudopodium enriched atypical kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:56,038,568...56,348,118
|
|
G |
PEX11A |
peroxisomal biogenesis factor 11 alpha |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,375,201...68,384,440
Ensembl chr15:87,581,564...87,590,684
|
|
G |
PGBD4 |
piggyBac transposable element derived 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,611,489...12,617,110
|
|
G |
PIAS1 |
protein inhibitor of activated STAT 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
|
|
G |
PIERCE2 |
piercer of microtubule wall 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,379,792...34,390,023
Ensembl chr15:52,702,057...52,712,290
|
|
G |
PIF1 |
PIF1 5'-to-3' DNA helicase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,756,605...43,766,631
Ensembl chr15:62,041,461...62,052,311
|
|
G |
PIGB |
phosphatidylinositol glycan anchor biosynthesis class B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797
|
|
G |
PKM |
pyruvate kinase M1/2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832
|
|
G |
PLA2G4D |
phospholipase A2 group IVD |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,021,875...21,048,848
Ensembl chr15:39,182,100...39,208,996
|
|
G |
PLA2G4E |
phospholipase A2 group IVE |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,937,573...20,975,388
Ensembl chr15:39,095,777...39,165,161
|
|
G |
PLA2G4F |
phospholipase A2 group IVF |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,095,474...21,110,983
Ensembl chr15:39,253,819...39,271,482
|
|
G |
PLCB2 |
phospholipase C beta 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,218,329...19,241,977
Ensembl chr15:37,476,699...37,496,813
|
|
G |
PLEKHO2 |
pleckstrin homology domain containing O2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,782,812...43,808,969
Ensembl chr15:62,052,563...62,093,865
|
|
G |
PLIN1 |
perilipin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,357,815...68,375,062
Ensembl chr15:87,565,468...87,577,301
|
|
G |
PML |
PML nuclear body scaffold |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883
|
|
G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
|
|
G |
POLR2M |
RNA polymerase II subunit M |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:36,674,521...36,685,343
Ensembl chr15:54,873,644...54,997,202
|
|
G |
PPCDC |
phosphopantothenoylcysteine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,963,001...54,001,550
Ensembl chr15:73,579,583...73,606,834
|
|
G |
PPIB |
peptidylprolyl isomerase B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,108,139...43,115,470
Ensembl chr15:61,400,272...61,406,758
|
|
G |
PPIP5K1 |
diphosphoinositol pentakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,495,159...22,553,264
|
|
G |
PPP1R14D |
protein phosphatase 1 regulatory inhibitor subunit 14D |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,756,077...19,786,920
Ensembl chr15:38,007,632...38,022,094
|
|
G |
PRC1 |
protein regulator of cytokinesis 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
|
|
G |
PRTG |
protogenin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,579,267...34,715,039
Ensembl chr15:52,910,486...53,032,562
|
|
G |
PSMA4 |
proteasome 20S subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,468,590...57,477,390
Ensembl chr15:76,431,890...76,440,655
|
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G |
PSTPIP1 |
proline-serine-threonine phosphatase interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
Ensembl chr15:75,533,114...75,552,365
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G |
PTPN9 |
protein tyrosine phosphatase non-receptor type 9 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204
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G |
PYGO1 |
pygopus family PHD finger 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,509,787...34,556,686
Ensembl chr15:52,838,651...52,879,630
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G |
RAB11A |
RAB11A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
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G |
RAB27A |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984
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|
G |
RAB8B |
RAB8B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,136,776...42,214,792
Ensembl chr15:60,432,749...60,510,547
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G |
RAD51 |
RAD51 recombinase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207
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G |
RAMAC |
RNA guanine-7 methyltransferase activating subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:62,613,027...62,617,863
Ensembl chr15:80,876,487...80,881,337
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G |
RASGRF1 |
Ras protein specific guanine nucleotide releasing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,933,152...58,063,824
Ensembl chr15:76,891,556...77,022,534
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G |
RASGRP1 |
RAS guanyl releasing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:17,417,684...17,494,333
Ensembl chr15:35,675,348...35,750,315
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G |
RASL12 |
RAS like family 12 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,992,879...44,007,564
Ensembl chr15:62,277,131...62,300,660
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G |
RBPMS2 |
RNA binding protein, mRNA processing factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,682,513...43,718,330
Ensembl chr15:61,970,407...61,981,958
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G |
RCCD1 |
RCC1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:69,648,220...69,682,408
Ensembl chr15:88,847,116...88,852,057
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G |
RCN2 |
reticulocalbin 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:55,857,130...55,875,365
Ensembl chr15:75,445,908...75,463,947
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|
G |
REC114 |
REC114 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:52,357,979...52,470,811
Ensembl chr15:71,116,084...71,228,098
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|
G |
RFX7 |
regulatory factor X7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:35,057,195...35,211,897
Ensembl chr15:53,376,869...53,527,541
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|
G |
RHCG |
Rh family C glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,165,708...68,190,964
Ensembl chr15:87,372,238...87,397,011
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|
G |
RHOV |
ras homolog family member V |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,814,817...19,816,925
Ensembl chr15:38,064,587...38,066,873
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|
G |
RLBP1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
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|
G |
RMDN3 |
regulator of microtubule dynamics 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,676,789...19,696,297
Ensembl chr15:37,929,628...37,947,856
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|
G |
RNF111 |
ring finger protein 111 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:37,957,390...38,068,006
Ensembl chr15:56,265,379...56,374,484
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|
G |
RORA |
RAR related orphan receptor A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:39,461,553...40,200,118
Ensembl chr15:57,771,735...57,980,460
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|
G |
RPAP1 |
RNA polymerase II associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,457,993...20,485,371
Ensembl chr15:38,698,454...38,724,730
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|
G |
RPL4 |
ribosomal protein L4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,446,582...45,452,173
Ensembl chr15:63,721,912...63,727,477
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G |
RPLP1 |
ribosomal protein lateral stalk subunit P1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:48,403,415...48,406,149
Ensembl chr15:67,173,832...67,176,570
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|
G |
RPP25 |
ribonuclease P and MRP subunit p25 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,895,547...53,897,922
Ensembl chr15:73,513,375...73,513,974
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|
G |
RPS17 |
ribosomal protein S17 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:63,056,604...63,060,436
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|
G |
RPS27L |
ribosomal protein S27 like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:42,101,137...42,105,019
Ensembl chr15:60,397,131...60,400,643
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|
G |
RPUSD2 |
RNA pseudouridine synthase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,514,711...19,519,752
Ensembl chr15:37,767,822...37,772,857
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|
G |
RSL24D1 |
ribosomal L24 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:34,152,671...34,168,532
|
|
G |
RTF1 |
RTF1 homolog, Paf1/RNA polymerase II complex component |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,355,927...20,424,153
Ensembl chr15:38,599,163...38,662,100
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|
G |
RYR3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494
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|
G |
SAXO2 |
stabilizer of axonemal microtubules 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:61,243,727...61,265,885
|
|
G |
SCAMP2 |
secretory carrier membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,786,314...53,816,203
Ensembl chr15:73,404,173...73,434,025
|
|
G |
SCAMP5 |
secretory carrier membrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,935,756...53,961,611
Ensembl chr15:73,565,906...73,577,524
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|
G |
SCAPER |
S-phase cyclin A associated protein in the ER |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:55,263,970...55,830,877
Ensembl chr15:74,855,612...75,377,042
|
|
G |
SCG3 |
secretogranin III |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:30,619,990...30,658,668
Ensembl chr15:48,950,839...48,989,481
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|
G |
SCG5 |
secretogranin V |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:11,136,920...11,192,606
Ensembl chr15:29,974,633...30,030,291
|
|
G |
SEC11A |
SEC11 homolog A, signal peptidase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:63,337,266...63,384,532
|
|
G |
SECISBP2L |
SECIS binding protein 2 like |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,937,192...28,033,830
Ensembl chr15:46,260,387...46,318,036
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|
G |
SEMA4B |
semaphorin 4B |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:68,873,927...68,918,792
Ensembl chr15:88,076,399...88,120,729
|
|
G |
SEMA6D |
semaphorin 6D |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:26,135,344...26,725,571
Ensembl chr15:44,994,073...45,050,169
|
|
G |
SEMA7A |
semaphorin 7A (JohnMiltonHagen blood group) |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:53,351,662...53,376,327
Ensembl chr15:72,972,475...72,996,953
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|
G |
SENP8 |
SUMO peptidase family member, NEDD8 specific |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:51,069,863...51,092,561
Ensembl chr15:69,854,934...69,855,572
|
|
G |
SERF2 |
small EDRK-rich factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,752,018...22,754,220
|
|
G |
SERINC4 |
serine incorporator 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:22,755,169...22,760,184
Ensembl chr15:40,845,167...40,850,960
|
|
G |
SH2D7 |
SH2 domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,021,217...57,031,176
|
|
G |
SH3GL3 |
SH3 domain containing GRB2 like 3, endophilin A3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:61,988,584...62,153,543
Ensembl chr15:81,337,529...81,501,770
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|
G |
SHC4 |
SHC adaptor protein 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,773,442...27,913,790
Ensembl chr15:46,098,526...46,236,533
|
|
G |
SHF |
Src homology 2 domain containing F |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,100,832...24,146,702
Ensembl chr15:42,469,202...42,500,239
|
|
G |
SIN3A |
SIN3 transcription regulator family member A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
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|
G |
SKIC8 |
SKI8 subunit of superkiller complex |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:57,204,199...57,229,052
Ensembl chr15:76,175,131...76,194,368
|
|
G |
SKOR1 |
SKI family transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,722,712...46,787,689
|
|
G |
SLC12A1 |
solute carrier family 12 member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
|
|
G |
SLC12A6 |
solute carrier family 12 member 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
|
|
G |
SLC24A1 |
solute carrier family 24 member 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:44,552,886...44,597,640
Ensembl chr15:62,831,987...62,882,431
|
|
G |
SLC24A5 |
solute carrier family 24 member 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:27,069,937...27,091,619
Ensembl chr15:45,394,090...45,415,823
|
|
G |
SLC27A2 |
solute carrier family 27 member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,130,262...29,182,752
Ensembl chr15:47,452,227...47,505,066
|
|
G |
SLC28A2 |
solute carrier family 28 member 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,199,846...24,223,378
Ensembl chr15:42,554,142...42,578,096
|
|
G |
SLC30A4 |
solute carrier family 30 member 4 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,425,816...24,469,085
Ensembl chr15:42,758,455...42,798,815
|
|
G |
SLC51B |
SLC51 subunit beta |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,988,512...43,992,939
Ensembl chr15:62,268,738...62,277,160
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|
G |
SLTM |
SAFB like transcription modulator |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:37,848,629...37,903,221
Ensembl chr15:56,158,460...56,211,695
|
|
G |
SMAD3 |
SMAD family member 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
|
|
G |
SMAD6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154
|
|
G |
SNAP23 |
synaptosome associated protein 23 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:21,456,247...21,494,340
Ensembl chr15:39,612,445...39,650,759
|
|
G |
SNAPC5 |
small nuclear RNA activating complex polypeptide 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420
|
|
G |
SNUPN |
snurportin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,508,586...54,536,301
Ensembl chr15:74,102,753...74,126,511
|
|
G |
SNX1 |
sorting nexin 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,048,974...43,096,544
Ensembl chr15:61,340,352...61,382,700
|
|
G |
SNX22 |
sorting nexin 22 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,103,990...43,109,802
Ensembl chr15:61,396,185...61,401,937
|
|
G |
SNX33 |
sorting nexin 33 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:54,556,304...54,570,683
Ensembl chr15:74,151,053...74,159,584
|
|
G |
SORD |
sorbitol dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,971,017...24,025,043
|
|
G |
SPESP1 |
sperm equatorial segment protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:47,775,405...47,902,786
Ensembl chr15:66,651,277...66,667,511
|
|
G |
SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
|
|
G |
SPG21 |
SPG21 abhydrolase domain containing, maspardin |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:43,902,865...43,929,663
Ensembl chr15:62,187,767...62,213,741
|
|
G |
SPINT1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:19,786,621...19,800,297
Ensembl chr15:38,036,638...38,050,303
|
|
G |
SPPL2A |
signal peptide peptidase like 2A |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:29,660,190...29,718,477
Ensembl chr15:47,997,304...48,055,239
|
|
G |
SPRED1 |
sprouty related EVH1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565
|
|
G |
SPTBN5 |
spectrin beta, non-erythrocytic 5 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:20,789,568...20,839,907
|
|
G |
SQOR |
sulfide quinone oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:24,575,863...24,636,798
Ensembl chr15:42,908,532...42,965,538
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SRP14 |
signal recognition particle 14 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:18,973,826...18,976,946
Ensembl chr15:37,229,658...37,232,729
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STARD5 |
StAR related lipid transfer domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:60,299,309...60,310,602
Ensembl chr15:79,254,424...79,265,673
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STARD9 |
StAR related lipid transfer domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,537,229...21,681,651
Ensembl chr15:39,692,013...39,836,032
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STOML1 |
stomatin like 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:52,892,400...52,903,812
Ensembl chr15:71,647,380...71,656,369
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STRA6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,117,891...53,150,790
Ensembl chr15:72,741,482...72,770,876
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STRC |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,562,313...22,633,064
Ensembl chr15:40,769,539...40,795,723 Ensembl chr15:40,769,539...40,795,723
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TBC1D21 |
TBC1 domain family member 21 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:52,783,013...52,798,656
Ensembl chr15:71,538,363...71,553,960
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TBC1D2B |
TBC1 domain family member 2B |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:56,923,368...57,006,708
Ensembl chr15:75,874,740...75,972,020
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TCF12 |
transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:35,885,421...36,257,632
Ensembl chr15:54,202,862...54,570,440
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TERB2 |
telomere repeat binding bouquet formation protein 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:23,904,880...23,927,325
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TEX9 |
testis expressed 9 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:35,211,936...35,428,547
Ensembl chr15:53,649,547...53,713,721
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TGM5 |
transglutaminase 5 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,193,639...22,227,977
Ensembl chr15:40,349,085...40,382,737
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TGM7 |
transglutaminase 7 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,237,315...22,263,527
Ensembl chr15:40,392,135...40,409,516
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THAP10 |
THAP domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:49,830,820...49,841,919
Ensembl chr15:68,597,315...68,608,402
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THBS1 |
thrombospondin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
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THSD4 |
thrombospondin type 1 domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:50,067,560...50,732,761
Ensembl chr15:68,859,819...69,491,696
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TICRR |
TOPBP1 interacting checkpoint and replication regulator |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:68,270,029...68,322,201
Ensembl chr15:87,476,738...87,528,870
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TIPIN |
TIMELESS interacting protein |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:45,290,350...45,310,335
Ensembl chr15:63,566,463...63,585,717
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TLE3 |
TLE family member 3, transcriptional corepressor |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:49,000,145...49,050,246
Ensembl chr15:67,770,176...67,817,320
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TLN2 |
talin 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:41,337,084...41,790,949
Ensembl chr15:59,892,920...60,088,414
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TLNRD1 |
talin rod domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:59,981,991...59,985,055
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TM6SF1 |
transmembrane 6 superfamily member 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,467,207...62,498,060
Ensembl chr15:80,995,993...81,025,503
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TMC3 |
transmembrane channel like 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:60,318,800...60,359,642
Ensembl chr15:79,273,709...79,314,223
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TMCO5A |
transmembrane and coiled-coil domains 5A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:16,864,593...16,897,708
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TMED3 |
transmembrane p24 trafficking protein 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:58,280,282...58,355,677
Ensembl chr15:77,237,664...77,313,574
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TMEM202 |
transmembrane protein 202 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:51,347,032...51,357,008
Ensembl chr15:70,111,035...70,120,598
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TMEM266 |
transmembrane protein 266 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,972,048...55,117,865
Ensembl chr15:74,638,076...74,708,901
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TMEM62 |
transmembrane protein 62 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,091,408...22,146,419
Ensembl chr15:40,248,952...40,301,280
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TMEM87A |
transmembrane protein 87A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,164,958...21,227,644
Ensembl chr15:39,325,412...39,386,297
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TMOD2 |
tropomodulin 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:30,690,641...30,757,960
Ensembl chr15:49,035,929...49,079,570
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G |
TNFAIP8L3 |
TNF alpha induced protein 8 like 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:30,008,024...30,046,021
Ensembl chr15:48,343,714...48,390,020
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G |
TP53BP1 |
tumor protein p53 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,364,696...22,472,499
Ensembl chr15:40,519,012...40,626,741
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TPM1 |
tropomyosin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
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TRIM69 |
tripartite motif containing 69 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:23,691,927...23,724,349
Ensembl chr15:41,861,525...41,893,069
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G |
TRIP4 |
thyroid hormone receptor interactor 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:43,332,107...43,400,522
Ensembl chr15:61,623,584...61,692,963
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TRPM7 |
transient receptor potential cation channel subfamily M member 7 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:29,513,220...29,639,506
Ensembl chr15:47,853,187...47,977,451
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TSPAN3 |
tetraspanin 3 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:55,976,231...56,001,345
Ensembl chr15:75,564,473...75,574,697
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TTBK2 |
tau tubulin kinase 2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,699,674...21,877,481
Ensembl chr15:39,861,102...40,034,982
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TUBGCP4 |
tubulin gamma complex component 4 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,332,076...22,371,360
Ensembl chr15:40,486,665...40,522,996
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TYRO3 |
TYRO3 protein tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:20,499,789...20,520,152
Ensembl chr15:38,739,509...38,760,288
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UACA |
uveal autoantigen with coiled-coil domains and ankyrin repeats |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:49,607,308...49,711,188
Ensembl chr15:68,375,939...68,477,395
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UBAP1L |
ubiquitin associated protein 1 like |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,033,064...44,047,056
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UBE2Q2 |
ubiquitin conjugating enzyme E2 Q2 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:54,754,642...54,814,264
Ensembl chr15:74,348,034...74,407,411
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UBL7 |
ubiquitin like 7 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,388,333...53,403,617
Ensembl chr15:73,008,913...73,024,208
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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725
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G |
ULK3 |
unc-51 like kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:53,778,676...53,785,754
Ensembl chr15:73,396,341...73,403,362
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UNC13C |
unc-13 homolog C |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:32,914,784...33,563,610
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G |
UNC45A |
unc-45 myosin chaperone A |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502
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UNG |
uracil DNA glycosylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2106500 |
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NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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G |
USP3 |
ubiquitin specific peptidase 3 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:42,450,782...42,541,162
Ensembl chr15:60,746,406...60,830,535
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USP50 |
ubiquitin specific peptidase 50 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:29,450,804...29,500,515
Ensembl chr15:47,790,100...47,839,619
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USP8 |
ubiquitin specific peptidase 8 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624
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G |
VPS13C |
vacuolar protein sorting 13 homolog C |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:40,819,512...41,020,644
Ensembl chr15:59,119,001...59,319,619
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VPS18 |
VPS18 core subunit of CORVET and HOPS complexes |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,836,707...19,846,231
Ensembl chr15:38,086,518...38,095,835
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VPS39 |
VPS39 subunit of HOPS complex |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,113,047...21,162,738
Ensembl chr15:39,273,546...39,323,196
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WDR72 |
WD repeat domain 72 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853
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G |
WDR73 |
WD repeat domain 73 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
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WDR76 |
WD repeat domain 76 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,786,956...22,828,496
Ensembl chr15:40,877,721...40,918,519
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WDR93 |
WD repeat domain 93 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:68,384,395...68,434,212
Ensembl chr15:87,590,676...87,639,820
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WHAMM |
WASP homolog associated with actin, golgi membranes and microtubules |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:62,763,534...62,788,639
Ensembl chr15:80,706,760...80,730,006
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ZFAND6 |
zinc finger AN1-type containing 6 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:59,023,678...59,107,270
Ensembl chr15:78,048,571...78,115,098
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ZFYVE19 |
zinc finger FYVE-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,747,606...19,755,185
Ensembl chr15:37,999,283...38,006,744
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ZNF106 |
zinc finger protein 106 |
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ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:21,372,911...21,452,149
Ensembl chr15:39,533,822...39,608,427
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G |
ZNF280D |
zinc finger protein 280D |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:35,597,057...35,700,187
Ensembl chr15:53,914,597...53,989,022
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G |
ZNF592 |
zinc finger protein 592 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
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G |
ZNF609 |
zinc finger protein 609 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:43,405,805...43,628,201
Ensembl chr15:61,735,706...61,912,212
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G |
ZNF710 |
zinc finger protein 710 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:68,688,203...68,770,188
Ensembl chr15:87,956,415...87,971,119
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G |
ZNF770 |
zinc finger protein 770 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:13,897,020...13,907,460
Ensembl chr15:32,158,176...32,160,251
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G |
ZNF774 |
zinc finger protein 774 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:69,039,595...69,050,747
Ensembl chr15:88,241,732...88,251,483
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G |
ZSCAN2 |
zinc finger and SCAN domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:63,268,141...63,291,499
Ensembl chr15:82,595,450...82,614,776
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G |
ZSCAN29 |
zinc finger and SCAN domain containing 29 |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,322,316...22,331,662
Ensembl chr15:40,476,956...40,486,653
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G |
ZWILCH |
zwilch kinetochore protein |
|
ISO |
ClinVar Annotator: match by term: Bloom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr15:45,452,382...45,496,780
Ensembl chr15:63,727,562...63,771,213
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Porencephaly 2 |
ClinVar |
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NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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G |
COL4A2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: Porencephaly 2 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24001601 PMID:24390199 PMID:24646874 PMID:25326635 PMID:25653287 PMID:25741868 PMID:27794444 PMID:28492532 PMID:30315939 PMID:30413629 PMID:30859180 PMID:31069529 PMID:32154576 PMID:32732225 PMID:33527515 PMID:33912663 PMID:34531397 More...
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NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
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G |
LOC117975672 |
COL4A2 antisense RNA 2 |
|
ISO |
ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: Porencephaly 2 |
ClinVar |
PMID:16199547 PMID:22209246 PMID:22209247 PMID:22333902 PMID:24001601 PMID:25741868 PMID:27794444 PMID:28492532 PMID:30315939 PMID:30859180 PMID:31069529 PMID:32154576 PMID:32732225 More...
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NCBI chr13:91,593,477...91,600,562
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G |
CCDC32 |
coiled-coil domain containing 32 |
|
ISO |
ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome |
OMIM ClinVar |
PMID:25741868 PMID:32307552 PMID:35451546 |
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NCBI chr15:19,466,344...19,510,553
Ensembl chr15:37,726,474...37,763,602
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ADGRG4 |
adhesion G protein-coupled receptor G4 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,424,181...125,546,128
Ensembl chr X:135,694,869...135,812,388
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ARHGEF6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,794,158...125,909,809
Ensembl chr X:136,058,879...136,176,110
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BRS3 |
bombesin receptor subtype 3 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,617,592...125,623,411
Ensembl chr X:135,883,613...135,888,069
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CD40LG |
CD40 ligand |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CDKL5 |
cyclin dependent kinase like 5 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25657822 PMID:25741868 PMID:26467025 PMID:27770071 PMID:28492532 More...
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NCBI chr X:11,047,357...11,261,172
Ensembl chr X:18,492,329...18,638,735
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FHL1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,270,340...125,334,961
Ensembl chr X:135,559,321...135,602,375
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GPR101 |
G protein-coupled receptor 101 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:126,149,803...126,159,844
Ensembl chr X:136,418,522...136,420,048
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G |
HIVEP2 |
HIVEP zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:25741868 |
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NCBI chr 6:140,518,954...140,712,849
Ensembl chr 6:145,240,914...145,328,850
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HTATSF1 |
HIV-1 Tat specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,626,714...125,641,988
Ensembl chr X:135,892,697...135,910,919
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MAP7D3 |
MAP7 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,337,678...125,375,182
Ensembl chr X:135,605,208...135,646,956
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RBMX |
RNA binding motif protein X-linked |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,997,989...126,009,525
Ensembl chr X:136,264,406...136,275,360
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RS1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:11,259,222...11,282,289
Ensembl chr X:18,624,687...18,657,315
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SLC9A6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type |
OMIM ClinVar |
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:21465648 PMID:24123876 PMID:24123890 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:27854218 PMID:28492532 PMID:29275387 PMID:29588952 PMID:32581362 PMID:32776513 PMID:32860008 PMID:34797406 PMID:35032046 PMID:35334527 More...
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NCBI chr X:125,099,378...125,171,161
Ensembl chr X:135,378,094...135,439,781
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VGLL1 |
vestigial like family member 1 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,660,337...125,685,373
Ensembl chr X:135,926,371...135,951,303
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ZIC3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:126,691,534...126,705,788
Ensembl chr X:136,954,024...136,967,819
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G |
ADAMTS17 |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893
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ALDH1A3 |
aldehyde dehydrogenase 1 family member A3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396
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G |
ASB7 |
ankyrin repeat and SOCS box containing 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,328,868...79,378,039
Ensembl chr15:98,616,797...98,666,094
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G |
CERS3 |
ceramide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775
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G |
CHSY1 |
chondroitin sulfate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,901,340...79,976,067
Ensembl chr15:99,186,705...99,260,591
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G |
IGF1R |
insulin like growth factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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G |
LINS1 |
lines homolog 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
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G |
LRRC28 |
leucine rich repeat containing 28 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:77,932,476...78,069,106
Ensembl chr15:97,117,104...97,250,570
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G |
LRRK1 |
leucine rich repeat kinase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,642,908...79,793,990
Ensembl chr15:98,931,344...99,081,168
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G |
LYSMD4 |
LysM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:78,396,860...78,413,774
Ensembl chr15:97,590,076...97,596,035
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G |
MEF2A |
myocyte enhancer factor 2A |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092
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G |
PGPEP1L |
pyroglutamyl-peptidase I like |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:77,651,265...77,791,570
Ensembl chr15:96,836,590...96,839,587
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SYNM |
synemin |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:77,790,447...77,821,317
Ensembl chr15:96,975,160...97,002,412
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G |
TTC23 |
tetratricopeptide repeat domain 23 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:77,821,847...77,932,769
Ensembl chr15:97,005,675...97,116,569
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G |
RNF135 |
ring finger protein 135 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr17:25,843,447...25,869,874
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ACP6 |
acid phosphatase 6, lysophosphatidic |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 1:123,070,751...123,114,327
Ensembl chr 1:112,417,138...112,459,176
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G |
BCL9 |
BCL9 transcription coactivator |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 1:122,982,604...123,067,299
Ensembl chr 1:112,463,904...112,478,264
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G |
CHD1L |
chromodomain helicase DNA binding protein 1 like |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219
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G |
FMO5 |
flavin containing dimethylaniline monoxygenase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 1:122,605,677...122,648,325
Ensembl chr 1:112,881,859...112,921,194
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GJA5 |
gap junction protein alpha 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
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G |
GJA8 |
gap junction protein alpha 8 |
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ISO |
ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
PMID:25741868 PMID:26694549 PMID:28492532 |
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NCBI chr 1:123,352,801...123,355,625
Ensembl chr 1:112,174,365...112,177,893
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G |
PRKAB2 |
protein kinase AMP-activated non-catalytic subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
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NCBI chr 1:122,577,308...122,595,083
Ensembl chr 1:112,934,877...112,952,364
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TP73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly |
OMIM ClinVar |
PMID:25741868 PMID:34077761 |
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NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: CK syndrome |
OMIM ClinVar |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 |
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NCBI chr X:142,405,340...142,443,723
Ensembl chr X:152,324,553...152,362,931
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DCX |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly, X-linked |
ClinVar |
PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 More...
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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G |
LAMB1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Classic lissencephaly |
ClinVar |
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NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
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G |
MNT |
MAX network transcriptional repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
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NCBI chr17:2,375,414...2,392,423
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G |
PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia |
ClinVar |
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NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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G |
MEIS2 |
Meis homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30055086 PMID:30291340 PMID:33526774 More...
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NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477
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G |
ANKRD46 |
ankyrin repeat domain 46 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:97,151,126...97,203,196
Ensembl chr 8:99,322,930...99,376,251
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G |
ATP6V1C1 |
ATPase H+ transporting V1 subunit C1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,521,146...99,725,603
Ensembl chr 8:101,832,538...101,883,956
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G |
AZIN1 |
antizyme inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604
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G |
BAALC |
BAALC binder of MAP3K1 and KLF4 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,796,292...99,942,112
Ensembl chr 8:101,950,095...102,041,388
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G |
CTHRC1 |
collagen triple helix repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,027,417...100,038,945
Ensembl chr 8:102,182,944...102,194,445
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G |
DCAF13 |
DDB1 and CUL4 associated factor 13 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,070,628...100,098,885
Ensembl chr 8:102,226,116...102,254,900
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G |
DCSTAMP |
dendrocyte expressed seven transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,967,757...100,985,384
Ensembl chr 8:103,121,332...103,138,223
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G |
DPYS |
dihydropyrimidinase |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:101,008,090...101,096,234
Ensembl chr 8:103,160,922...103,248,303
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G |
FBXO43 |
F-box protein 43 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:96,774,246...96,786,933
Ensembl chr 8:98,948,145...98,960,382
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G |
FZD6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,954,523...99,989,153
Ensembl chr 8:102,110,317...102,144,363
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G |
GRHL2 |
grainyhead like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:98,129,147...98,308,120
Ensembl chr 8:100,308,575...100,471,830
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G |
KCNS2 |
potassium voltage-gated channel modifier subfamily S member 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:95,070,460...95,078,405
Ensembl chr 8:97,251,481...97,252,914
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G |
KLF10 |
KLF transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,302,943...99,310,099
Ensembl chr 8:101,462,915...101,469,982
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G |
LOC100994763 |
cytochrome c oxidase subunit 6C |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:96,525,872...96,541,578
Ensembl chr 8:98,700,724...98,716,662
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G |
LRP12 |
LDL receptor related protein 12 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:101,118,465...101,218,272
Ensembl chr 8:103,271,889...103,369,552
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G |
MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752
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G |
NCALD |
neurocalcin delta |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:98,324,885...98,767,804
Ensembl chr 8:100,488,400...100,520,842
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G |
NIPAL2 |
NIPA like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:94,826,325...94,938,586
Ensembl chr 8:97,013,882...97,118,281
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G |
ODF1 |
outer dense fiber of sperm tails 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:99,206,018...99,216,111
Ensembl chr 8:101,366,611...101,376,030
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G |
OSR2 |
odd-skipped related transciption factor 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:95,590,753...95,598,491
Ensembl chr 8:97,768,980...97,776,669
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G |
PABPC1 |
poly(A) binding protein cytoplasmic 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:97,346,433...97,365,628
Ensembl chr 8:99,518,347...99,537,614
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G |
POLR2K |
RNA polymerase II, I and III subunit K |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:96,791,485...96,794,913
Ensembl chr 8:98,965,837...98,969,221
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G |
POP1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328
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G |
RGS22 |
regulator of G protein signaling 22 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:96,601,282...96,747,195
Ensembl chr 8:98,775,639...98,920,786
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G |
RIMS2 |
regulating synaptic membrane exocytosis 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,156,403...100,894,128
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G |
RNF19A |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:96,897,388...96,950,440
Ensembl chr 8:99,070,813...99,123,495
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G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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G |
SLC25A32 |
solute carrier family 25 member 32 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:100,054,560...100,071,016
Ensembl chr 8:102,210,068...102,226,732
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G |
SNX31 |
sorting nexin 31 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:97,216,289...97,293,064
Ensembl chr 8:99,389,362...99,465,796
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G |
SPAG1 |
sperm associated antigen 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:96,798,887...96,882,982
Ensembl chr 8:98,977,469...99,054,849
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G |
STK3 |
serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:95,098,185...95,465,324
Ensembl chr 8:97,355,173...97,708,437
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G |
UBR5 |
ubiquitin protein ligase E3 component n-recognin 5 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913
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G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28057753 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30792901 PMID:30843084 PMID:31444703 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:33994118 PMID:34006472 PMID:34353225 PMID:34425733 More...
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NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
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G |
YWHAZ |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:97,560,251...97,595,117
Ensembl chr 8:99,730,393...99,762,990
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G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688
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G |
ZNF706 |
zinc finger protein 706 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:97,835,750...97,845,132
Ensembl chr 8:100,004,227...100,012,127
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G |
MITF |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
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NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
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G |
APC2 |
APC regulator of WNT signaling pathway 2 |
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ISO |
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:31585108 |
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G |
KIF26A |
kinesin family member 26A |
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ISO |
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 11 |
OMIM ClinVar |
PMID:25741868 PMID:36228617 |
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NCBI chr14:84,762,903...84,807,440
Ensembl chr14:104,570,327...104,611,245
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G |
CAMSAP1 |
calmodulin regulated spectrin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12 |
OMIM ClinVar |
PMID:25741868 PMID:36283405 |
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NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911
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G |
KIF5C |
kinesin family member 5C |
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ISO |
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 |
OMIM ClinVar |
PMID:23033978 PMID:23603762 PMID:24088041 PMID:24812067 PMID:25741868 PMID:26633545 PMID:29048727 PMID:34490615 PMID:35231114 More...
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NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
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G |
KIF2A |
kinesin family member 2A |
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ISO |
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 3 |
OMIM ClinVar |
PMID:23603762 PMID:25741868 PMID:27747449 PMID:28492532 |
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NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
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G |
TUBG1 |
tubulin gamma 1 |
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ISO |
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 4 |
OMIM ClinVar |
PMID:23603762 PMID:25741868 PMID:28492532 |
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NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
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G |
TUBB2A |
tubulin beta 2A class IIa |
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ISO |
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 | ClinVar Annotator: match by term: TUBB2A-related condition |
OMIM ClinVar |
PMID:24702957 PMID:25326637 PMID:25741868 PMID:27770045 PMID:28492532 PMID:28840640 PMID:29198720 PMID:29547997 PMID:31474318 PMID:32203252 PMID:32571897 PMID:33547136 PMID:33776625 More...
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NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
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G |
TUBB |
tubulin beta class I |
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ISO |
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6 |
OMIM ClinVar |
PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 PMID:29706646 PMID:30738969 PMID:32085672 PMID:34211110 PMID:35183200 More...
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NCBI chr 6:30,465,367...30,470,451
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G |
CTNNA2 |
catenin alpha 2 |
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ISO |
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 |
OMIM ClinVar |
PMID:25741868 PMID:30013181 |
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NCBI chr2A:79,594,694...80,745,885
Ensembl chr2A:81,303,559...82,307,258
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G |
LRRTM1 |
leucine rich repeat transmembrane neuronal 1 |
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ISO |
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 |
ClinVar |
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NCBI chr2A:80,376,582...80,392,899
Ensembl chr2A:81,953,891...81,955,459
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement |
ClinVar |
PMID:25741868 |
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
FKTN |
fukutin |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement |
ClinVar |
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:15833426 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30975432 PMID:31742715 PMID:31983221 PMID:32721234 PMID:33200426 PMID:34008892 PMID:35131284 PMID:35587316 PMID:35843586 More...
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:26467025 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 PMID:31980526 PMID:32056211 PMID:32115343 PMID:32403337 PMID:32404165 PMID:33756069 PMID:34008892 PMID:34106991 PMID:34333724 PMID:35006422 More...
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NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
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G |
ANKMY2 |
ankyrin repeat and MYND domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359
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G |
BZW2 |
basic leucine zipper and W2 domains 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982
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G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
OMIM ClinVar |
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 PMID:10738921 PMID:12955720 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301788 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27234031 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 PMID:30564623 PMID:31127727 PMID:31395954 PMID:31909476 PMID:32502767 PMID:33199158 PMID:34485198 More...
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NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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G |
LRRC72 |
leucine rich repeat containing 72 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320
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G |
SOSTDC1 |
sclerostin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 7:17,193,531...17,229,769
Ensembl chr 7:16,443,703...16,448,076 Ensembl chr 7:16,443,703...16,448,076
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G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532 More...
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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G |
TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532 More...
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:23877401 PMID:25558065 |
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NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
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G |
DAG1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20675713 PMID:20961758 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:21886772 PMID:22264518 PMID:22451200 PMID:22981120 PMID:22983245 PMID:22995991 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26986070 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30060766 PMID:30107846 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32429923 PMID:32746448 PMID:33051673 PMID:33077954 PMID:33200426 PMID:34008892 PMID:34653404 PMID:35239206 PMID:36522254 More...
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
FKTN |
fukutin |
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ISO |
ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15833426 PMID:16199547 PMID:17034757 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23746544 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25525159 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30975432 PMID:31742715 PMID:31983221 PMID:32721234 PMID:32969603 PMID:33048919 PMID:33200426 PMID:34008892 PMID:34120883 PMID:35131284 PMID:35175440 PMID:35587316 PMID:35843586 More...
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
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POMT1 |
protein O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
OMIM ClinVar |
PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15037715 PMID:15522202 PMID:15637732 PMID:15733261 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16698797 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:20065251 PMID:20816175 PMID:22323514 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:27884173 PMID:28097321 PMID:28116189 PMID:28157257 PMID:28492532 PMID:28556411 PMID:28815891 PMID:29101272 PMID:30060766 PMID:30426380 PMID:31311558 PMID:31319225 PMID:31680349 PMID:32528171 PMID:32860008 PMID:34930662 PMID:35046417 PMID:35606784 More...
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NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:31127727 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33200426 PMID:34413876 More...
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NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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RXYLT1 |
ribitol xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27733679 PMID:28492532 PMID:30017359 PMID:31742715 PMID:34490615 More...
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NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
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B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26663670 PMID:28492532 PMID:29273094 PMID:29302074 PMID:29791932 PMID:31130284 PMID:31428121 PMID:33290285 PMID:34906519 More...
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NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
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TBCE |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 |
ClinVar |
PMID:23453667 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613
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FNTA |
farnesyltransferase, CAAX box, subunit alpha |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
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HGSNAT |
heparan-alpha-glucosaminide N-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,388,406...42,448,466
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HOOK3 |
hook microtubule tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043
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POMK |
protein O-mannose kinase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 PMID:29910097 PMID:30060766 PMID:32907597 More...
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NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
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RNF170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163
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THAP1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207
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B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22219654 PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 More...
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NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
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BBS1 |
Bardet-Biedl syndrome 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,868,257...61,892,473
Ensembl chr11:65,192,355...65,216,274
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BRMS1 |
BRMS1 transcriptional repressor and anoikis regulator |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,703,021...61,710,784
Ensembl chr11:65,028,407...65,036,163
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DPP3 |
dipeptidyl peptidase 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,836,463...61,867,303
Ensembl chr11:65,161,892...65,191,398
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MRPL11 |
mitochondrial ribosomal protein L11 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,793,509...61,796,539
Ensembl chr11:65,117,818...65,120,915
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NPAS4 |
neuronal PAS domain protein 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825
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PELI3 |
pellino E3 ubiquitin protein ligase family member 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,824,463...61,834,930
Ensembl chr11:65,148,441...65,159,211
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RIN1 |
Ras and Rab interactor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,697,751...61,702,501
Ensembl chr11:65,023,138...65,027,605
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SLC29A2 |
solute carrier family 29 member 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
ClinVar |
PMID:22219654 PMID:28492532 |
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NCBI chr11:61,728,204...61,738,174
Ensembl chr11:65,054,041...65,063,540
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POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 |
OMIM ClinVar |
PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22700954 PMID:22958903 PMID:24002165 PMID:24033266 PMID:24183756 PMID:25214167 PMID:25267602 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26495167 PMID:26886200 PMID:27447704 PMID:27457812 PMID:27854218 PMID:27894351 PMID:28492532 PMID:28688748 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:31127727 PMID:32140910 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33176815 PMID:33200426 PMID:34413876 PMID:35628876 PMID:36048137 More...
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NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED |
OMIM ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:36819107 More...
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:36819107 More...
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
OMIM ClinVar |
PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16143867 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17336067 PMID:17351538 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20236121 PMID:20623375 PMID:20675713 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:21970816 PMID:22264518 PMID:22451200 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30232282 PMID:30293248 PMID:30417025 PMID:30564623 PMID:30816495 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32429923 PMID:32746448 PMID:33077954 PMID:33200426 PMID:34008892 PMID:34509255 PMID:34602496 PMID:34653404 PMID:35239206 PMID:36522254 More...
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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STRN4 |
striatin 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
ClinVar |
PMID:25741868 |
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NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 |
OMIM ClinVar |
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr22:14,077,463...14,929,250
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ABHD5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
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ACKR2 |
atypical chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,710,724...42,772,396
Ensembl chr 3:43,788,312...43,835,453
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ANO10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
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CCDC13 |
coiled-coil domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,615,424...42,680,102
Ensembl chr 3:43,679,176...43,743,463
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G |
CCK |
cholecystokinin |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396
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G |
CTNNB1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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G |
CYP8B1 |
cytochrome P450 family 8 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
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G |
GASK1A |
golgi associated kinase 1A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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G |
HHATL |
hedgehog acyltransferase like |
|
ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,600,209...42,610,540
Ensembl chr 3:43,664,271...43,674,486
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G |
HIGD1A |
HIG1 hypoxia inducible domain family member 1A |
|
ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,692,771...42,710,654
Ensembl chr 3:43,754,154...43,773,460
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G |
KLHL40 |
kelch like family member 40 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,592,977...42,600,100
Ensembl chr 3:43,657,128...43,664,055
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G |
KRBOX1 |
KRAB box domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,840,198...42,846,633
Ensembl chr 3:43,904,935...43,908,914 Ensembl chr 3:43,904,935...43,908,914
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G |
LYZL4 |
lysozyme like 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,302,237...42,378,700
Ensembl chr 3:42,565,535...42,579,033
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G |
NKTR |
natural killer cell triggering receptor |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,506,135...42,556,343
Ensembl chr 3:43,571,457...43,617,801
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G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED |
OMIM ClinVar |
PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 PMID:27066570 PMID:28492532 PMID:31130284 PMID:32570172 PMID:35131284 PMID:35229910 More...
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NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
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G |
SEC22C |
SEC22 homolog C, vesicle trafficking protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,452,946...42,506,666
Ensembl chr 3:42,715,553...42,736,927
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G |
SNRK |
SNF related kinase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:43,179,640...43,244,364
Ensembl chr 3:44,244,453...44,305,648
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G |
SS18L2 |
SS18 like 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,487,389...42,500,908
Ensembl chr 3:43,552,858...43,565,681
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G |
TRAK1 |
trafficking kinesin protein 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:41,920,678...42,135,881
Ensembl chr 3:42,262,630...42,399,068
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G |
ULK4 |
unc-51 like kinase 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:41,152,261...41,864,865
Ensembl chr 3:41,568,907...42,121,959
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G |
VIPR1 |
vasoactive intestinal peptide receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,407,591...42,442,565
Ensembl chr 3:42,670,195...42,705,170
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G |
ZBTB47 |
zinc finger and BTB domain containing 47 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,560,887...42,573,752
Ensembl chr 3:43,629,405...43,639,232
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G |
ZNF662 |
zinc finger protein 662 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:42,809,150...42,823,194
Ensembl chr 3:43,872,164...43,883,699
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G |
DAG1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
OMIM ClinVar |
PMID:24033266 PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 More...
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NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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G |
MANF |
mesencephalic astrocyte derived neurotrophic factor |
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ISO |
ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome |
OMIM ClinVar |
PMID:26077850 PMID:33500254 |
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NCBI chr 3:51,315,948...51,320,022
Ensembl chr 3:52,548,933...52,554,343
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G |
PCDH12 |
protocadherin 12 |
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ISO |
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 |
OMIM ClinVar |
PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 PMID:29556033 PMID:30178464 PMID:33527719 More...
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NCBI chr 5:137,305,110...137,324,879
Ensembl chr 5:143,414,064...143,429,540
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G |
RNF14 |
ring finger protein 14 |
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ISO |
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 |
ClinVar |
PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 PMID:29556033 PMID:30178464 PMID:33527719 More...
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NCBI chr 5:137,316,493...137,351,061
Ensembl chr 5:143,441,497...143,461,355
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G |
EIF5A |
eukaryotic translation initiation factor 5A |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33547280 |
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NCBI chr17:7,341,076...7,346,570
Ensembl chr17:7,327,363...7,333,270
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G |
LOC100995589 |
uncharacterized LOC100995589 |
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ISO |
ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome |
ClinVar |
PMID:16906565 PMID:18470948 PMID:20301770 PMID:21224895 PMID:25741868 PMID:28492532 PMID:30573562 More...
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NCBI chr2A:15,923,366...15,926,680
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome |
ClinVar |
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:21224895 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 More...
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NCBI chr2A:15,925,130...15,931,605
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G |
LOC100995589 |
uncharacterized LOC100995589 |
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ISO |
ClinVar Annotator: match by term: MYCN-related condition |
ClinVar |
PMID:25741868 PMID:30573562 |
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NCBI chr2A:15,923,366...15,926,680
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: MYCN-related condition |
OMIM ClinVar |
PMID:25741868 PMID:30573562 |
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NCBI chr2A:15,925,130...15,931,605
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G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies |
OMIM ClinVar |
PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30523548 PMID:30690204 PMID:31608932 PMID:33126486 More...
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NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
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G |
CKAP2L |
cytoskeleton associated protein 2 like |
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ISO |
ClinVar Annotator: match by term: Filippi syndrome |
OMIM ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
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NCBI chr2A:89,293,727...89,322,182
Ensembl chr2A:113,747,536...113,775,619
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G |
NT5DC4 |
5'-nucleotidase domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Filippi syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2A:89,315,647...89,336,907
Ensembl chr2A:113,732,812...113,753,637
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
protein:decreased expression, altered localization:cerebral cortex: |
RGD |
PMID:22752548 |
RGD:9068443 |
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:cerebral cortex |
RGD |
PMID:22459050 |
RGD:8547829 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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G |
MTOR |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Focal cortical dysplasia type 2 |
OMIM ClinVar |
PMID:9536098 PMID:17360675 PMID:17576681 PMID:20190810 PMID:23636326 PMID:24631838 PMID:25741868 PMID:25799227 PMID:25851998 PMID:25878179 PMID:26018084 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27482884 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28892148 PMID:29281825 PMID:30569621 PMID:31441589 PMID:32581362 PMID:33077954 PMID:33833411 More...
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NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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G |
TSC1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II |
OMIM ClinVar |
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10205261 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533067 PMID:10570911 PMID:10607950 PMID:11208653 PMID:11329144 PMID:12015165 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:15595939 PMID:15798777 PMID:16114042 PMID:16554133 PMID:16981987 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18397877 PMID:18414213 PMID:18772611 PMID:18830229 PMID:19139070 PMID:19175396 PMID:19747374 PMID:19918125 PMID:20165957 PMID:21309039 PMID:21510812 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22558107 PMID:22703879 PMID:22995991 PMID:23254740 PMID:23389244 PMID:23514105 PMID:23857276 PMID:23999528 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25077650 PMID:25498131 PMID:25722345 PMID:25741868 PMID:25900779 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26580448 PMID:27153395 PMID:27425891 PMID:28215400 PMID:28250423 PMID:28492532 PMID:29261847 PMID:29684080 PMID:29706646 PMID:30076350 PMID:30548481 PMID:31054281 PMID:31664448 PMID:31856217 PMID:32917966 PMID:34799483 More...
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NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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G |
TSC2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II |
OMIM ClinVar |
PMID:9536098 PMID:9829910 PMID:10205261 PMID:10533066 PMID:10533067 PMID:10732801 PMID:10735580 PMID:11068191 PMID:11112665 PMID:11403047 PMID:11741832 PMID:12015165 PMID:12111193 PMID:15483652 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16464865 PMID:16981987 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:18772611 PMID:18854862 PMID:19254590 PMID:19369101 PMID:20165957 PMID:21309039 PMID:21332470 PMID:21510812 PMID:21520333 PMID:22495309 PMID:22703879 PMID:22867869 PMID:22903760 PMID:23389244 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24412076 PMID:24728327 PMID:25363768 PMID:25432535 PMID:25741868 PMID:26467025 PMID:26540169 PMID:26703369 PMID:26994145 PMID:27174333 PMID:27859028 PMID:27930734 PMID:28065512 PMID:28178598 PMID:28215400 PMID:28250423 PMID:28407358 PMID:28492532 PMID:29167182 PMID:29196670 PMID:29476190 PMID:29500070 PMID:29655203 PMID:29659200 PMID:29801666 PMID:30036593 PMID:30763456 PMID:30787465 PMID:31623367 PMID:32211034 PMID:32502382 PMID:33084842 PMID:34403804 PMID:35231114 PMID:35441217 PMID:35918040 PMID:36030538 PMID:36117189 PMID:36229297 More...
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NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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G |
DAG1 |
dystroglycan 1 |
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ISO |
protein:decreased expression:brain, heart, skeletal muscle |
RGD |
PMID:11445638 |
RGD:11537476 |
NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 |
ClinVar |
PMID:25741868 |
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
FKTN |
fukutin |
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ISO |
ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related |
OMIM ClinVar |
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:15833426 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30975432 PMID:31742715 PMID:31983221 PMID:32721234 PMID:33200426 PMID:34008892 PMID:35131284 PMID:35587316 PMID:35843586 More...
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
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GON7 |
GON7 subunit of KEOPS complex |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome |
ClinVar |
PMID:25741868 PMID:31481669 |
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NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201
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G |
LAGE3 |
L antigen family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
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NCBI chr X:143,919,519...143,921,001
Ensembl chr X:153,790,672...153,792,549
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G |
OSGEP |
O-sialoglycoprotein endopeptidase |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome |
ClinVar |
PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 |
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NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888
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G |
TP53RK |
TP53 regulating kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
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NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497
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G |
TPRKB |
TP53RK binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
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NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271
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G |
WDR4 |
WD repeat domain 4 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome |
ClinVar |
PMID:25741868 PMID:30079490 |
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NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
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G |
WDR73 |
WD repeat domain 73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25466283 |
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NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
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G |
ZNF592 |
zinc finger protein 592 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20531441 |
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NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
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G |
ENG |
endoglin |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 |
ClinVar |
PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 More...
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NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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G |
WDR73 |
WD repeat domain 73 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition |
OMIM ClinVar |
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:27001912 PMID:28492532 PMID:29127259 PMID:30315938 PMID:31130284 More...
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NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
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ZNF592 |
zinc finger protein 592 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 |
ClinVar |
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 |
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NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
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C1H1orf122 |
chromosome 1 C1orf122 homolog |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 |
ClinVar |
PMID:31481669 |
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NCBI chr 1:37,082,486...37,084,170
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YRDC |
yrdC N6-threonylcarbamoyltransferase domain containing |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 |
OMIM ClinVar |
PMID:31481669 PMID:34545459 |
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NCBI chr 1:37,077,653...37,082,929
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LAGE3 |
L antigen family member 3 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked |
OMIM ClinVar |
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 |
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NCBI chr X:143,919,519...143,921,001
Ensembl chr X:153,790,672...153,792,549
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OSGEP |
O-sialoglycoprotein endopeptidase |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 |
OMIM ClinVar |
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 PMID:29127259 PMID:30141175 PMID:31564459 PMID:33333793 PMID:33532864 PMID:36856752 More...
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NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888
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TP53RK |
TP53 regulating kinase |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 |
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NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497
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TPRKB |
TP53RK binding protein |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 |
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NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271
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WDR4 |
WD repeat domain 4 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 |
OMIM ClinVar |
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 PMID:30079490 More...
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NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
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NUP107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 |
OMIM ClinVar |
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 PMID:30179222 More...
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NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642
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NUP133 |
nucleoporin 133 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 |
OMIM ClinVar |
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 |
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NCBI chr 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746
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GON7 |
GON7 subunit of KEOPS complex |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 |
OMIM ClinVar |
PMID:25741868 PMID:31481669 |
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NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201
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FOXP1 |
forkhead box P1 |
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ISO |
protein:altered expression:neocortex (human) |
RGD |
PMID:22759905 |
RGD:11560525 |
NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hemimegalencephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
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MTOR |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Unilateral Megalencephaly |
ClinVar |
PMID:24631838 PMID:25799227 PMID:26619011 PMID:28864461 PMID:29281825 |
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NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Unilateral Megalencephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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PTEN |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Hemimegalencephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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RHEB |
Ras homolog, mTORC1 binding |
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ISO |
ClinVar Annotator: match by term: Hemimegalencephaly |
ClinVar |
PMID:30414531 |
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NCBI chr 7:143,054,747...143,108,011
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RPS6 |
ribosomal protein S6 |
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ISO |
ClinVar Annotator: match by term: Hemimegalencephaly |
ClinVar |
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NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722
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DNMT3A |
DNA methyltransferase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome |
OMIM ClinVar |
PMID:11836534 PMID:15456878 PMID:25741868 PMID:26912663 PMID:28492532 PMID:29740169 PMID:30478443 PMID:33182397 More...
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NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
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AP4B1 |
adaptor related protein complex 4 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:88,652,196...88,662,237
Ensembl chr 1:123,701,343...123,711,481
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DCLRE1B |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 |
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NCBI chr 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403
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DKC1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31027506 More...
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NCBI chr X:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475
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RTEL1 |
regulator of telomere elongation helicase 1 |
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ISO |
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) |
RGD |
PMID:23959892 |
RGD:152977765 |
Ensembl chr20:61,581,331...61,618,718
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TERT |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 |
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Ensembl chr 5:1,300,960...1,338,872
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TINF2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
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MED17 |
mediator complex subunit 17 |
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ISO |
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
OMIM ClinVar |
PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 PMID:28492532 PMID:30345598 PMID:30919572 More...
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NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913
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PUS7 |
pseudouridine synthase 7 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859 |
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NCBI chr 7:97,447,332...97,512,812
Ensembl chr 7:110,177,284...110,243,923
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CHD8 |
chromodomain helicase DNA binding protein 8 |
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ISO |
ClinVar Annotator: match by term: CHD8-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly |
OMIM ClinVar |
PMID:18414213 PMID:22495309 PMID:23160955 PMID:24998929 PMID:25326635 PMID:25326637 PMID:25363760 PMID:25741868 PMID:25741869 PMID:26789910 PMID:27824329 PMID:27959697 PMID:28191890 PMID:28492532 PMID:28600779 PMID:28714951 PMID:29389947 PMID:30504930 PMID:30564305 PMID:30670789 PMID:31001818 PMID:31130284 PMID:31721432 PMID:31980904 PMID:31981491 PMID:32309624 PMID:32951261 PMID:33352116 PMID:34088660 PMID:34906502 More...
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NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361
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PHF21A |
PHD finger protein 21A |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30487643 PMID:31649809 |
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NCBI chr11:45,883,122...46,074,805
Ensembl chr11:46,374,675...46,564,358
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NTNG2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay |
ClinVar |
PMID:25741868 |
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NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107
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PAK1 |
p21 (RAC1) activated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders |
OMIM ClinVar |
PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 PMID:33098801 More...
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NCBI chr11:72,372,577...72,524,817
Ensembl chr11:76,015,998...76,104,197
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ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Juberg-Hayward syndrome |
OMIM ClinVar |
PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 PMID:32977150 More...
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NCBI chr 8:27,049,858...27,080,396
Ensembl chr 8:24,251,557...24,284,001
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FLNA |
filamin A |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome |
ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29334594 PMID:30089473 PMID:30143558 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:143,799,088...143,825,282
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HCFC1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999
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IRAK1 |
interleukin 1 receptor associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602
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G |
MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,484,008...143,489,904
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G |
RENBP |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,490,103...143,499,487
Ensembl chr X:153,376,847...153,386,214
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TEX28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,711,495...143,736,128
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TKTL1 |
transketolase like 1 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,736,589...143,772,277
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TMEM187 |
transmembrane protein 187 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,527,152...143,533,708
Ensembl chr X:153,419,802...153,420,587
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UBE3B |
ubiquitin protein ligase E3B |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type |
OMIM ClinVar |
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30792901 More...
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NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216
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HSPG2 |
heparan sulfate proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:9536098 PMID:11279527 PMID:17576681 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:34244600 PMID:34906502 PMID:35982159 More...
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NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
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LDLRAD2 |
low density lipoprotein receptor class A domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
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G |
DLL3 |
delta like canonical Notch ligand 3 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:36,597,420...36,607,021
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PLEKHG2 |
pleckstrin homology and RhoGEF domain containing G2 |
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ISO |
ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia |
OMIM ClinVar |
PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 |
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NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940
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LOC100986707 |
cytochrome c oxidase subunit 7B, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 |
OMIM ClinVar |
PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 |
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NCBI chr X:67,082,551...67,088,492
Ensembl chr X:77,194,757...77,200,532
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G |
ACTG1 |
actin gamma 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 |
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NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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G |
ARX |
aristaless related homeobox |
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ISO |
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 |
MouseDO |
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NCBI chr X:17,598,858...17,612,544
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ASPM |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 |
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NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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G |
CENPJ |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 PMID:28492532 PMID:34958143 PMID:35229910 More...
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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G |
CEP85L |
centrosomal protein 85 like |
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ISO |
ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Posterior Predominant Lissencephaly |
ClinVar |
PMID:12910438 PMID:25741868 PMID:29706646 PMID:32097629 PMID:32097630 |
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NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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G |
CTNNA2 |
catenin alpha 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30013181 |
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NCBI chr2A:79,594,694...80,745,885
Ensembl chr2A:81,303,559...82,307,258
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G |
DAG1 |
dystroglycan 1 |
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ISO |
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 |
MouseDO |
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NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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G |
DCX |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 PMID:28492532 PMID:29671837 More...
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:16199547 PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 PMID:28135719 PMID:28196890 PMID:28492532 PMID:29671837 PMID:33818783 PMID:36175372 More...
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NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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KIF21B |
kinesin family member 21B |
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ISO |
ClinVar Annotator: match by term: Pachygyria |
ClinVar |
PMID:25741868 |
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NCBI chr 1:176,569,305...176,623,403
Ensembl chr 1:180,872,306...180,925,725
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LAMB1 |
laminin subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
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LOC112438684 |
mitotic-spindle organizing protein 2B |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:25558065 |
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NCBI chr2B:28,467,686...28,476,354
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MACF1 |
microtubule actin crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:25741868 PMID:30471716 |
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NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
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MYH11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive |
ClinVar |
PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28166811 PMID:28492532 PMID:28679693 PMID:30122538 PMID:31664448 More...
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Ensembl chr16:16,007,168...16,091,058
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NBN |
nibrin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:12845677 PMID:14973119 PMID:15185344 PMID:15279809 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22941933 PMID:23317186 PMID:24033266 PMID:24113799 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:28873162 PMID:29368341 PMID:29419426 PMID:30426508 PMID:31173646 PMID:32295079 PMID:33050356 PMID:33471974 PMID:33471991 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34544220 PMID:35309086 More...
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NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
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NDE1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive |
ClinVar |
PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28166811 PMID:28492532 PMID:28679693 PMID:30122538 PMID:31664448 More...
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Ensembl chr16:15,948,881...16,027,986
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PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
severity |
ISO |
DNA:mutations:: ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly |
RGD ClinVar |
PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 PMID:9817918 PMID:9860301 PMID:10441340 PMID:10583396 PMID:10727864 PMID:11115846 PMID:11502906 PMID:12885786 PMID:12885796 PMID:14581661 PMID:15007136 PMID:17576681 PMID:17664403 PMID:18414213 PMID:19667223 PMID:19808989 PMID:21410694 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26494205 PMID:26633545 PMID:27891766 PMID:28492532 PMID:29671837 PMID:32238909 PMID:33176815 More...
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RGD:11073221 |
NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple |
RGD |
PMID:17559086 |
RGD:11065022 |
NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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POMT1 |
protein O-mannosyltransferase 1 |
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ISO |
DNA:insertions, deletions, missense mutations: :multiple |
RGD |
PMID:17559086 |
RGD:11065022 |
NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
DNA:missense mutation:exonp.G726R (c.2176G>A) (human) |
RGD |
PMID:17559086 |
RGD:11065022 |
NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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RELN |
reelin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive |
ClinVar |
PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29671837 |
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NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
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TMTC3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630
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TUBB |
tubulin beta class I |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:25741868 PMID:29671837 PMID:29706646 |
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NCBI chr 6:30,465,367...30,470,451
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TUBG1 |
tubulin gamma 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 |
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NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
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DCX |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Subcortical band heterotopia |
ClinVar |
PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 |
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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LAMB1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Classic lissencephaly |
ClinVar |
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NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
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PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia | ClinVar Annotator: match by term: PAFAH1B1-related condition | ClinVar Annotator: match by term: Subcortical band heterotopia |
OMIM ClinVar |
PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 PMID:28492532 PMID:29671837 More...
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NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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CEP85L |
centrosomal protein 85 like |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 10 |
OMIM ClinVar |
PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29706646 PMID:32097629 PMID:32097630 More...
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NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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PLN |
phospholamban |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 10 |
ClinVar |
PMID:18241046 PMID:24033266 PMID:28492532 |
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NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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AIPL1 |
aryl hydrocarbon receptor interacting protein like 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation |
ClinVar |
PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 |
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NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
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NKX2-5 |
NK2 homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation |
ClinVar |
PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
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MYH11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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Ensembl chr16:16,007,168...16,091,058
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NDE1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) |
OMIM ClinVar |
PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 PMID:25332407 PMID:25741868 PMID:26206584 PMID:26467025 PMID:28492532 PMID:30637988 More...
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Ensembl chr16:15,948,881...16,027,986
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DLD |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
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LAMB1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 5 |
OMIM ClinVar |
PMID:16199547 PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 PMID:28492532 More...
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NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
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KATNB1 |
katanin regulatory subunit B1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly |
OMIM ClinVar |
PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 |
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NCBI chr16:38,011,804...38,034,015
Ensembl chr16:57,143,472...57,165,426
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CDK5 |
cyclin dependent kinase 5 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia |
OMIM ClinVar |
PMID:25560765 |
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NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
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TMTC3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 8 |
OMIM ClinVar |
PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 |
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NCBI chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630
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MACF1 |
microtubule actin crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: MACF1-related condition | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia |
OMIM ClinVar |
PMID:24507697 PMID:25741868 PMID:28492532 PMID:30471716 PMID:33600046 |
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NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
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DCX |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked |
ClinVar |
PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 PMID:11331616 PMID:11468322 PMID:12552055 PMID:18414213 PMID:18685874 PMID:22857951 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 More...
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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CLASP1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Epiphyseal dysplasia, microcephaly and nystagmus | ClinVar Annotator: match by term: Lowry-Wood syndrome |
ClinVar |
PMID:10189087 PMID:12605445 PMID:19288552 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 PMID:25735804 PMID:25741868 PMID:26522830 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29265708 PMID:29391254 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32628740 More...
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NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
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KIF9 |
kinesin family member 9 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
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KLHL18 |
kelch like family member 18 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
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PTPN23 |
protein tyrosine phosphatase non-receptor type 23 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
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SETD2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 PMID:24267886 PMID:24728327 PMID:24852293 PMID:24901346 PMID:25574603 PMID:25741868 PMID:26084711 PMID:26467025 PMID:26580448 PMID:27317772 PMID:27455002 PMID:28166811 PMID:28424246 PMID:28492532 PMID:28577310 PMID:29276005 PMID:29681085 PMID:30419952 PMID:31474318 PMID:32668055 PMID:32710489 PMID:33004838 More...
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NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
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ABCC8 |
ATP binding cassette subfamily C member 8 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
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NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 PMID:26656175 PMID:26871653 PMID:28492532 More...
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NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
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AKT3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
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NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
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G |
CCND2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29642246 |
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NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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G |
CHD8 |
chromodomain helicase DNA binding protein 8 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 PMID:32267004 |
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NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635
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G |
ERF |
ETS2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
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NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808
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G |
FIBP |
FGF1 intracellular binding protein |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:26660953 |
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NCBI chr11:61,244,175...61,248,805
Ensembl chr11:64,573,537...64,578,328
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G |
FOXO4 |
forkhead box O4 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 |
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NCBI chr X:60,364,466...60,372,147
Ensembl chr X:70,422,504...70,429,971
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 |
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NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
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G |
GSK3A |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
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NCBI chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948
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G |
KCNA6 |
potassium voltage-gated channel subfamily A member 6 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 |
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NCBI chr12:4,926,069...4,968,475
Ensembl chr12:4,847,510...4,849,099
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G |
MAP1B |
microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
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MEFV |
MEFV innate immunity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:30171907 PMID:33223529 More...
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NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
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G |
MORC4 |
MORC family CW-type zinc finger 4 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 |
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NCBI chr X:96,040,992...96,100,570
Ensembl chr X:106,418,348...106,472,561
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G |
MTOR |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33077954 PMID:34197453 |
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NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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G |
NFIA |
nuclear factor I A |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
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NCBI chr 1:60,331,945...60,713,729
Ensembl chr 1:61,938,945...62,526,753
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G |
NFIB |
nuclear factor I B |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 PMID:30388402 |
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NCBI chr 9:13,923,516...14,376,264
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Megalencephaly, autosomal dominant |
ClinVar |
PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 |
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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G |
PTCH1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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G |
PTEN |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
RAB5IF |
RAB5 interacting factor |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:24194475 PMID:35614220 |
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NCBI chr20:32,938,953...32,945,648
Ensembl chr20:34,059,109...34,065,624
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G |
SLC25A22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
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G |
TBC1D7 |
TBC1 domain family member 7 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
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NCBI chr 6:13,150,677...13,174,661
Ensembl chr 6:13,491,734...13,546,853
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G |
TRIT1 |
tRNA isopentenyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 PMID:30977854 PMID:36047296 |
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NCBI chr 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187
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G |
USP7 |
ubiquitin specific peptidase 7 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 |
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NCBI chr16:7,825,332...7,895,095
Ensembl chr16:9,065,858...9,106,146
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G |
WDFY3 |
WD repeat and FYVE domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
PMID:25741868 PMID:31327001 |
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NCBI chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
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G |
ZNF526 |
zinc finger protein 526 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly |
ClinVar |
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NCBI chr19:39,108,454...39,115,200
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G |
KIF7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies |
OMIM ClinVar |
PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 |
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NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
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G |
NFIB |
nuclear factor I B |
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ISO |
ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30388402 |
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NCBI chr 9:13,923,516...14,376,264
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G |
RIN2 |
Ras and Rab interactor 2 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
OMIM ClinVar |
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 PMID:27277385 PMID:28492532 PMID:30769224 More...
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NCBI chr20:19,716,071...19,960,598
Ensembl chr20:19,811,284...19,924,256
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G |
ERC1 |
ELKS/RAB6-interacting/CAST family member 1 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation |
ClinVar |
PMID:25741868 |
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NCBI chr12:1,066,034...1,597,562
Ensembl chr12:1,027,967...1,545,431
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G |
HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation |
OMIM ClinVar |
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 PMID:32921582 PMID:33526774 More...
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NCBI chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
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G |
ZBTB7A |
zinc finger and BTB domain containing 7A |
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ISO |
ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin |
OMIM ClinVar |
PMID:25741868 PMID:31645653 PMID:34515416 |
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NCBI chr19:3,066,554...3,090,285
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G |
KLLN |
killin, p53 regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Macrocephaly-autism syndrome |
ClinVar |
PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
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NCBI chr10:84,581,971...84,587,420
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G |
PTEN |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome |
OMIM ClinVar |
PMID:1336932 PMID:2338203 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9685848 PMID:9832031 PMID:9832032 PMID:9856571 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10606430 PMID:10749983 PMID:10772390 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11071384 PMID:11156408 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12015762 PMID:12372056 PMID:12614768 PMID:12844284 PMID:12938083 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15372512 PMID:15492994 PMID:15647370 PMID:15805158 PMID:16014636 PMID:16199547 PMID:16752378 PMID:16773562 PMID:16952599 PMID:17286265 PMID:17392703 PMID:17427195 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873119 PMID:17873882 PMID:17942903 PMID:17954274 PMID:18080326 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20049735 PMID:20085938 PMID:20301661 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20712882 PMID:20718038 PMID:20881644 PMID:20926450 PMID:21194675 PMID:21291452 PMID:21343951 PMID:21417916 PMID:21659347 PMID:21798997 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22252256 PMID:22266152 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22505997 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22970944 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23423780 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23695273 PMID:23744781 PMID:23764071 PMID:23825907 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24088041 PMID:24123798 PMID:24136893 PMID:24345843 PMID:24468202 PMID:24728327 PMID:24763289 PMID:24768297 PMID:24778394 PMID:25132236 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25326637 PMID:25418537 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25937288 PMID:25980754 PMID:26124082 PMID:26229595 PMID:26246517 PMID:26279303 PMID:26467025 PMID:26579216 PMID:26580448 PMID:26633545 PMID:26665196 PMID:26681312 PMID:26773036 PMID:26800850 PMID:26898890 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27878467 PMID:27884173 PMID:27959697 PMID:28008555 PMID:28086757 PMID:28135145 PMID:28250423 PMID:28251007 PMID:28286253 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:29048666 PMID:29273943 PMID:29371908 PMID:29373119 PMID:29389947 PMID:29594054 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29752200 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29927861 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311381 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30720243 PMID:30763456 PMID:31006514 PMID:31144778 PMID:31159747 PMID:31209962 PMID:31336731 PMID:31567591 PMID:32150788 PMID:32238909 PMID:32350270 PMID:32366478 PMID:32442409 PMID:32664367 PMID:32860008 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33624935 PMID:33887726 PMID:34268892 PMID:34943931 PMID:35227301 PMID:35264596 PMID:35931053 PMID:36681873 PMID:36988593 More...
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
TBC1D7 |
TBC1 domain family member 7 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive |
ClinVar |
PMID:23687350 PMID:24515783 PMID:25741868 PMID:28492532 |
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NCBI chr 6:13,150,677...13,174,661
Ensembl chr 6:13,491,734...13,546,853
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G |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
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ISO |
ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome |
OMIM ClinVar |
PMID:16199547 PMID:16760738 PMID:19334086 PMID:22305528 PMID:22541558 PMID:23188108 PMID:24470203 PMID:24999515 PMID:25326635 PMID:25326637 PMID:25387991 PMID:25741868 PMID:26507355 PMID:28492532 PMID:28708303 PMID:32333448 PMID:32410215 PMID:36135330 More...
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NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
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G |
AKT3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome |
ClinVar |
PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 |
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NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:18829572 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21266528 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22228622 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23754335 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24459181 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26749308 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27191687 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28191889 PMID:28425981 PMID:28492532 PMID:28502725 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30231930 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32595695 PMID:32733937 PMID:32778138 PMID:33077954 PMID:34008892 PMID:34170046 PMID:34402524 PMID:34496175 PMID:34733958 PMID:34854542 PMID:37712948 More...
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Vascular Malformations and Overgrowth |
ClinVar |
PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 PMID:34040190 |
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NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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G |
PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita |
ClinVar |
PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 More...
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NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177
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G |
RIT1 |
Ras like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION |
ClinVar |
PMID:24469055 PMID:25741868 PMID:28492532 |
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NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
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G |
HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability |
ClinVar |
PMID:26153217 PMID:27108999 |
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NCBI chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
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G |
LOC100995589 |
uncharacterized LOC100995589 |
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ISO |
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:30573562 |
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NCBI chr2A:15,923,366...15,926,680
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome |
ClinVar OMIM |
PMID:25741868 PMID:30573562 |
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NCBI chr2A:15,925,130...15,931,605
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G |
AKT3 |
AKT serine/threonine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
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G |
CCND2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705253 PMID:29642246 |
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NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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G |
PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME |
ClinVar |
PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 More...
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NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177
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G |
ARMC6 |
armadillo repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,471,692...18,497,896
Ensembl chr19:19,474,320...19,498,511
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G |
ARRDC2 |
arrestin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,480,879...17,491,851
Ensembl chr19:18,461,626...18,469,079
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G |
BORCS8 |
BLOC-1 related complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,615,221...18,630,230
Ensembl chr19:19,617,791...19,632,239
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G |
CCDC124 |
coiled-coil domain containing 124 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,412,778...17,423,756
Ensembl chr19:18,386,017...18,397,647
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G |
CERS1 |
ceramide synthase 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487
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G |
COMP |
cartilage oligomeric matrix protein |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,222,270...18,230,936
Ensembl chr19:19,229,562...19,238,008
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G |
COPE |
COPI coat complex subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,337,678...18,357,399
Ensembl chr19:19,345,680...19,364,737
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G |
CRLF1 |
cytokine receptor like factor 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,070,465...18,083,701
Ensembl chr19:19,040,682...19,046,584
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G |
CRTC1 |
CREB regulated transcription coactivator 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,123,375...18,221,832
Ensembl chr19:19,131,484...19,228,980
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G |
DDX49 |
DEAD-box helicase 49 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,357,682...18,366,614
Ensembl chr19:19,364,949...19,373,869
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G |
ELL |
elongation factor for RNA polymerase II |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,923,035...17,999,842
Ensembl chr19:18,894,054...18,969,923
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G |
FKBP8 |
FKBP prolyl isomerase 8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,009,505...18,021,772
Ensembl chr19:18,980,269...18,992,170
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G |
GDF1 |
growth differentiation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487
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G |
GDF15 |
growth differentiation factor 15 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470
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G |
HOMER3 |
homer scaffold protein 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,367,191...18,379,454
Ensembl chr19:19,374,442...19,385,392
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G |
IFI30 |
IFI30 lysosomal thiol reductase |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,652,935...17,657,239
Ensembl chr19:18,629,663...18,635,046
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G |
IL12RB1 |
interleukin 12 receptor subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,536,709...17,547,665
Ensembl chr19:18,513,585...18,541,383
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G |
IQCN |
IQ motif containing N |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,732,673...17,750,226
Ensembl chr19:18,708,155...18,719,021
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G |
ISYNA1 |
inositol-3-phosphate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,913,400...17,916,789
Ensembl chr19:18,884,412...18,887,931
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G |
JAK3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
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G |
JUND |
JunD proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,755,331...17,757,164
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G |
KCNN1 |
potassium calcium-activated channel subfamily N member 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,430,795...17,478,981
Ensembl chr19:18,422,231...18,458,630
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G |
KLHL26 |
kelch like family member 26 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
Ensembl chr19:19,086,145...19,117,456
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G |
KXD1 |
KxDL motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,034,887...18,046,603
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G |
LRRC25 |
leucine rich repeat containing 25 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,869,844...17,876,364
Ensembl chr19:18,840,438...18,846,918
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G |
LSM4 |
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,785,580...17,801,866
Ensembl chr19:18,757,390...18,773,812
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G |
MAST3 |
microtubule associated serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,575,138...17,630,814
Ensembl chr19:18,571,425...18,605,026
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G |
MEF2B |
myocyte enhancer factor 2B |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,583,770...18,609,757
Ensembl chr19:19,585,920...19,610,256
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G |
MPV17L2 |
MPV17 mitochondrial inner membrane protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,669,334...17,672,802
Ensembl chr19:18,645,830...18,649,085
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G |
NR2C2AP |
nuclear receptor 2C2 associated protein |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,639,380...18,641,725
Ensembl chr19:19,640,163...19,642,179
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G |
PDE4C |
phosphodiesterase 4C |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,683,455...17,709,936
Ensembl chr19:18,663,378...18,686,194
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G |
PGPEP1 |
pyroglutamyl-peptidase I |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,819,337...17,848,683
Ensembl chr19:18,792,341...18,812,697
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G |
PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 PMID:22729224 PMID:23745724 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28166811 PMID:28492532 PMID:28502725 PMID:33818783 PMID:34170046 More...
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NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177
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G |
RAB3A |
RAB3A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,672,661...17,679,541
Ensembl chr19:18,649,166...18,656,768
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G |
REX1BD |
required for excision 1-B domain containing |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,065,875...18,069,557
Ensembl chr19:19,035,764...19,039,415
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G |
RFXANK |
regulatory factor X associated ankyrin containing protein |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,630,221...18,639,840
Ensembl chr19:19,631,847...19,640,619
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G |
RPL18A |
ribosomal protein L18a |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,341,788...17,345,278
Ensembl chr19:18,315,535...18,318,978
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G |
SLC25A42 |
solute carrier family 25 member 42 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,501,567...18,550,368
Ensembl chr19:19,504,325...19,553,158
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G |
SLC5A5 |
solute carrier family 5 member 5 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480
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G |
SSBP4 |
single stranded DNA binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:17,897,548...17,913,159
Ensembl chr19:18,877,213...18,883,849
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G |
SUGP2 |
SURP and G-patch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,429,029...18,471,958
Ensembl chr19:19,436,661...19,473,103
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G |
TMEM161A |
transmembrane protein 161A |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,557,799...18,576,722
Ensembl chr19:19,560,046...19,578,779
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G |
TMEM59L |
transmembrane protein 59 like |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,089,605...18,097,943
Ensembl chr19:19,059,660...19,067,669
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G |
UBA52 |
ubiquitin A-52 residue ribosomal protein fusion product 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:18,040,946...18,052,445
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G |
UPF1 |
UPF1 RNA helicase and ATPase |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,269,878...18,306,199
Ensembl chr19:19,292,725...19,313,224
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
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G |
AKT3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18813315 PMID:22500628 PMID:22729223 PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:25416470 PMID:25523067 PMID:25741868 PMID:28086757 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:31471318 PMID:33176815 PMID:34170046 More...
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NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
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G |
CEP170 |
centrosomal protein 170 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:218,726,142...218,856,585
Ensembl chr 1:224,107,145...224,238,813
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G |
PLD5 |
phospholipase D family member 5 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:217,640,005...218,081,158
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G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 |
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NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
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G |
SPMIP3 |
sperm microtubule inner protein 3 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:219,964,465...220,001,843
Ensembl chr 1:225,346,231...225,382,166
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G |
ZBTB18 |
zinc finger and BTB domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259
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G |
CCND2 |
cyclin D2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
OMIM ClinVar |
PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 PMID:31056854 PMID:33818783 More...
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NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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G |
EIF2S3 |
eukaryotic translation initiation factor 2 subunit gamma |
|
ISO |
ClinVar Annotator: match by term: MEHMO syndrome |
OMIM ClinVar |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 |
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NCBI chr X:16,653,762...16,678,198
Ensembl chr X:24,027,099...24,050,879
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G |
PCNT |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism |
ClinVar |
PMID:18414213 PMID:28492532 |
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NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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G |
CLASP1 |
cytoplasmic linker associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 |
ClinVar |
PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:21990275 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26419500 PMID:26522830 PMID:26641461 PMID:27040866 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:30214071 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32595695 PMID:32628740 PMID:33059947 More...
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NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
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G |
PCNT |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition |
OMIM ClinVar |
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21270239 PMID:21567919 PMID:22821869 PMID:23033978 PMID:24033266 PMID:24928221 PMID:25326635 PMID:25363768 PMID:25741868 PMID:27124789 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30214071 PMID:30922925 PMID:32267100 PMID:32818659 PMID:35568357 More...
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NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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G |
AAAS |
aladin WD repeat nucleoporin |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr12:35,432,834...35,446,969
Ensembl chr12:36,214,444...36,227,886
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G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:33223528 |
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NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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G |
ACADSB |
acyl-CoA dehydrogenase short/branched chain |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
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G |
ACE |
angiotensin I converting enzyme |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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G |
ACTG1 |
actin gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
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G |
ADAR |
adenosine deaminase RNA specific |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:129,937,993...129,983,747
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G |
ADARB1 |
adenosine deaminase RNA specific B1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
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G |
ADAT3 |
adenosine deaminase tRNA specific 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr19:910,954...912,687
Ensembl chr19:1,890,437...1,891,748
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G |
ADD3 |
adducin 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:106,597,693...106,727,494
Ensembl chr10:110,123,270...110,178,671
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G |
ADGRL2 |
adhesion G protein-coupled receptor L2 |
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ISO |
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RGD |
PMID:30340542 |
RGD:13838661 |
NCBI chr 1:80,506,240...81,189,353
Ensembl chr 1:83,086,465...83,317,446
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G |
ADNP |
activity dependent neuroprotector homeobox |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
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G |
AGT |
angiotensinogen |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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G |
ALG13 |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26482601 PMID:28492532 PMID:28778787 PMID:28887793 PMID:28940310 PMID:32238909 PMID:32681751 PMID:33734437 More...
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NCBI chr X:100,794,882...100,874,083
Ensembl chr X:111,253,717...111,332,534
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G |
ALOXE3 |
arachidonate lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
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G |
ALPL |
alkaline phosphatase, biomineralization associated |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 PMID:18821074 PMID:25023282 PMID:25741868 PMID:28492532 PMID:30293248 PMID:31857675 PMID:32160374 PMID:33452237 More...
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NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
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ALS2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
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G |
AMPD2 |
adenosine monophosphate deaminase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:111,997,440...112,009,662
Ensembl chr 1:111,225,522...111,237,778
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G |
ANK1 |
ankyrin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
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G |
ANKLE2 |
ankyrin repeat and LEM domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25259927 |
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NCBI chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140
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G |
AP3B2 |
adaptor related protein complex 3 subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
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G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 |
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NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
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G |
ARCN1 |
archain 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
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G |
ARFGEF2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
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G |
ARHGEF2 |
Rho/Rac guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
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G |
ARID1A |
AT-rich interaction domain 1A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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G |
ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:154,581,148...155,018,706
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G |
ARID2 |
AT-rich interaction domain 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564
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G |
ARVCF |
ARVCF delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
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G |
ASF1A |
anti-silencing function 1A histone chaperone |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
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G |
ASPM |
assembly factor for spindle microtubules |
treatment susceptibility |
ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
RGD ClinVar |
PMID:16141009 PMID:19028728 PMID:20301772 PMID:20679666 PMID:20823249 PMID:22823409 PMID:23611254 PMID:25741868 PMID:26539891 PMID:28492532 PMID:30842647 More...
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RGD:13439744 RGD:1599300 |
NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453
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G |
ATM |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:19781682 PMID:25741868 PMID:28492532 PMID:30287823 PMID:31871109 PMID:32068069 PMID:32566746 PMID:33471991 More...
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NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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G |
ATPAF2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911
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G |
ATR |
ATR serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
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G |
ATRX |
ATRX chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 |
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NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486
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G |
B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
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G |
BCAP31 |
B cell receptor associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:143,265,920...143,274,956
Ensembl chr X:153,137,992...153,161,628
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G |
BCL11B |
BCL11 transcription factor B |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr14:79,795,262...79,898,472
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G |
BLM |
BLM RecQ like helicase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32566746 |
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NCBI chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
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G |
BPTF |
bromodomain PHD finger transcription factor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428
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G |
BRD4 |
bromodomain containing 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600
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G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
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G |
CALHM4 |
calcium homeostasis modulator family member 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046
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G |
CALHM5 |
calcium homeostasis modulator family member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411
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G |
CALHM6 |
calcium homeostasis modulator family member 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574
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G |
CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 PMID:32581362 PMID:32875707 More...
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NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342
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G |
CARS2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000
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G |
CASK |
calcium/calmodulin dependent serine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19165920 |
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NCBI chr X:33,967,329...34,374,385
Ensembl chr X:41,659,295...42,066,570
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G |
CBL |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
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G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281
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G |
CCDC88A |
coiled-coil domain containing 88A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr2A:55,445,060...55,576,479
Ensembl chr2A:56,589,221...56,715,362
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G |
CDC45 |
cell division cycle 45 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195
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G |
CDC6 |
cell division cycle 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972
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G |
CDK19 |
cyclin dependent kinase 19 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:108,413,832...108,619,053
Ensembl chr 6:112,483,434...112,686,987
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G |
CDK5RAP2 |
CDK5 regulatory subunit associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 |
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NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
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G |
CDON |
cell adhesion associated, oncogene regulated |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091
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G |
CENPF |
centromere protein F |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
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G |
CENPJ |
centromere protein J |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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G |
CEP152 |
centrosomal protein 152 |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
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NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
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G |
CEP290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
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G |
CEP63 |
centrosomal protein 63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21983783 |
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NCBI chr 3:131,532,450...131,609,240
Ensembl chr 3:139,003,898...139,092,680
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G |
CEP85L |
centrosomal protein 85 like |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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G |
CERT1 |
ceramide transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:39,788,858...39,927,626
Ensembl chr 5:40,400,900...40,539,921
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G |
CFAP96 |
cilia and flagella associated protein 96 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
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G |
CHD2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
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G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
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G |
CHKA |
choline kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:35202461 |
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NCBI chr11:63,134,776...63,202,516
Ensembl chr11:66,444,406...66,510,221
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G |
CIT |
citron rho-interacting serine/threonine kinase |
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ISO |
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RGD |
PMID:10219263 |
RGD:13204836 |
NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
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G |
CLASP1 |
cytoplasmic linker associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 |
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NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
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G |
CLCN4 |
chloride voltage-gated channel 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:2,787,185...2,867,846
Ensembl chr X:10,040,067...10,120,991
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G |
COL4A1 |
collagen type IV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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G |
COL7A1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 More...
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NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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G |
COPB2 |
COPI coat complex subunit beta 2 |
|
ISO |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
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NCBI chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
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G |
CPT2 |
carnitine palmitoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
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G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:63,607,217...63,739,464
Ensembl chr 8:65,268,837...65,401,069
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G |
CSTB |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:32581362 More...
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NCBI chr21:30,030,359...30,032,899
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G |
CTBP1 |
C-terminal binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822
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G |
DCBLD1 |
discoidin, CUB and LCCL domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
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G |
DDX11 |
DEAD/H-box helicase 11 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr12:55,176,165...55,207,123
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G |
DHCR7 |
7-dehydrocholesterol reductase |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9634533 PMID:9653161 PMID:10602371 PMID:10677299 PMID:10814720 PMID:10995508 PMID:11078571 PMID:11175299 PMID:15521979 PMID:15670717 PMID:15805162 PMID:15952211 PMID:16044199 PMID:16207203 PMID:16497572 PMID:16983147 PMID:17441222 PMID:17965227 PMID:18006960 PMID:19390132 PMID:20301322 PMID:20556518 PMID:21696385 PMID:23042628 PMID:23293579 PMID:24033266 PMID:25040602 PMID:25741868 PMID:27415407 PMID:28166604 PMID:28250423 PMID:28492532 PMID:33223529 More...
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NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
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G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 |
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NCBI chr 5:136,876,396...136,980,097
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G |
DNM1L |
dynamin 1 like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17460227 |
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NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30478443 |
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NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
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G |
DOCK6 |
dedicator of cytokinesis 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
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G |
DONSON |
DNA replication fork stabilization factor DONSON |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28191891 |
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NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132
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G |
DSE |
dermatan sulfate epimerase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 More...
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NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
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G |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple |
RGD |
PMID:24470203 |
RGD:155791662 |
NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
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G |
EIF2B1 |
eukaryotic translation initiation factor 2B subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665
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G |
ELAC2 |
elaC ribonuclease Z 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241
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G |
EMC1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
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G |
EP300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28767289 |
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NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10739753 PMID:18628313 |
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NCBI chr10:44,703,720...44,784,948
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G |
EXT1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317
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G |
FAM111A |
FAM111 trypsin like peptidase A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:54,359,711...54,372,132
Ensembl chr11:57,818,413...57,823,046
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G |
FAM162B |
family with sequence similarity 162 member B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760
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G |
FAM184A |
family with sequence similarity 184 member A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,768,098...116,957,070
Ensembl chr 6:120,908,644...121,026,173
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G |
FANCA |
FA complementation group A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 |
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NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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G |
FANCE |
FA complementation group E |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:35,012,076...35,027,018
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G |
FANCI |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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G |
FAT4 |
FAT atypical cadherin 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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G |
FCN3 |
ficolin 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861
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G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
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G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936
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G |
FH |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 |
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NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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G |
FLNA |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:143,799,088...143,825,282
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G |
FOXG1 |
forkhead box G1 |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:25741868 |
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|
|
G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476
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G |
FREM1 |
FRAS1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
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|
G |
FREM2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048
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G |
FRMD4A |
FERM domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399
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G |
GATA4 |
GATA binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:28492532 PMID:32992319 More...
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NCBI chr 8:7,442,921...7,526,731
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|
G |
GATAD1 |
GATA zinc finger domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:84,445,039...84,456,781
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G |
GEMIN4 |
gem nuclear organelle associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27878435 |
|
NCBI chr17:713,806...721,374
Ensembl chr17:637,677...644,438
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G |
GLI2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
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|
G |
GNAO1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27072799 PMID:28202424 PMID:28492532 PMID:28628939 PMID:28747448 More...
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NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
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|
G |
GNB1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:27108799 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 More...
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NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
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|
G |
GOPC |
golgi associated PDZ and coiled-coil motif containing |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
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|
G |
GPRC6A |
G protein-coupled receptor class C group 6 member A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099
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G |
GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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|
G |
GRIP1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480
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G |
HDAC4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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G |
HES7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr17:43,530,919...43,537,999
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G |
HPRT1 |
hypoxanthine phosphoribosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:2323782 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:25481104 PMID:25741868 PMID:28492532 More...
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NCBI chr X:123,609,248...123,650,102
Ensembl chr X:133,916,681...133,948,197
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
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G |
IBA57 |
iron-sulfur cluster assembly factor IBA57 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:203,566,902...203,577,857
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G |
IFT122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117
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G |
IFT140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
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G |
IFT74 |
intraflagellar transport 74 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:26,802,459...26,912,292
Ensembl chr 9:27,415,565...27,514,558
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G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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G |
IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr X:45,447,977...45,535,836
Ensembl chr X:53,557,563...53,644,737
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G |
ITGB6 |
integrin subunit beta 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426
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G |
JARID2 |
jumonji and AT-rich interaction domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:15,100,415...15,376,505
Ensembl chr 6:15,466,050...15,739,170
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G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:23631430 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:26669661 PMID:27831900 PMID:28492532 PMID:30755392 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
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NCBI chr11:2,469,750...2,874,467
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G |
KIF11 |
kinesin family member 11 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
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G |
KIF1C |
kinesin family member 1C |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
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G |
KIF20B |
kinesin family member 20B |
|
ISO |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
|
|
NCBI chr10:86,428,814...86,501,384
Ensembl chr10:89,968,651...90,041,998
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G |
KIF23 |
kinesin family member 23 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:26539891 |
|
NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
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G |
KIF26B |
kinesin family member 26B |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
|
|
NCBI chr 1:220,756,171...221,321,969
Ensembl chr 1:226,343,821...226,681,669
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G |
KIF2A |
kinesin family member 2A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
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G |
KIF5C |
kinesin family member 5C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
|
NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
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G |
KIFBP |
kinesin family binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15883926 |
|
NCBI chr10:65,455,924...65,484,140
Ensembl chr10:67,989,492...68,017,898
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G |
KMT2A |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
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G |
KMT2C |
lysine methyltransferase 2C |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
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G |
KMT2D |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592 |
|
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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G |
KNL1 |
kinetochore scaffold 1 |
|
ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
|
NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
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G |
KPNA5 |
karyopherin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486
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G |
LARS1 |
leucyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:141,562,798...141,631,388
Ensembl chr 5:147,578,042...147,646,834
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G |
LDLRAD2 |
low density lipoprotein receptor class A domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
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G |
LEMD2 |
LEM domain nuclear envelope protein 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:30905398 |
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NCBI chr 6:33,344,372...33,363,143
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G |
LINS1 |
lines homolog 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
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G |
LMNB1 |
lamin B1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
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G |
LOC100988698 |
mitochondrial chaperone BCS1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 |
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NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
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G |
LOC100992172 |
SBDS ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:32150944 PMID:32581362 More...
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NCBI chr 7:59,090,343...59,098,332
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G |
LRP5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
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G |
MAK16 |
MAK16 homolog |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:32,799,512...32,816,149
Ensembl chr 8:29,986,247...30,002,800
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G |
MAN1A1 |
mannosidase alpha class 1A member 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,984,842...117,157,623
Ensembl chr 6:121,127,656...121,298,196
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G |
MASP1 |
MBL associated serine protease 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:184,241,611...184,317,272
Ensembl chr 3:192,707,784...192,782,196
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G |
MBD5 |
methyl-CpG binding domain protein 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
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G |
MCM4 |
minichromosome maintenance complex component 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:44,387,529...44,404,773
Ensembl chr 8:41,778,247...41,794,783
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G |
MCM9 |
minichromosome maintenance 9 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
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G |
MCPH1 |
microcephalin 1 |
no_association |
ISO |
DNA:SNP: :c.940G>C (g.37995G>C) (human) ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
RGD ClinVar |
PMID:19267414 PMID:25741868 |
RGD:13204744 |
NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
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G |
MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27781091 PMID:27929079 PMID:28492532 PMID:32581362 More...
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NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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G |
MED17 |
mediator complex subunit 17 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913
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G |
MEFV |
MEFV innate immunity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:30171907 PMID:33223529 More...
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NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
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G |
MFN2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 PMID:17296794 PMID:19889647 PMID:20418531 PMID:21285398 PMID:21508331 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31130284 PMID:31188717 PMID:31832804 PMID:32376792 PMID:33475540 PMID:33841295 PMID:34366782 PMID:35938991 More...
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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G |
MFSD2A |
MFSD2 lysolipid transporter A, lysophospholipid |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
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G |
MIPEP |
mitochondrial intermediate peptidase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582
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G |
MKS1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783 |
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NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328
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G |
MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
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G |
NACC1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
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G |
NAT8L |
N-acetyltransferase 8 like |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:2,201,326...2,211,302
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G |
NBN |
nibrin |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:12845677 PMID:14973119 PMID:15185344 PMID:15279809 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22941933 PMID:23317186 PMID:24033266 PMID:24113799 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:28873162 PMID:29368341 PMID:29419426 PMID:30426508 PMID:31173646 PMID:32295079 PMID:33050356 PMID:33471974 PMID:33471991 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34544220 PMID:35309086 More...
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NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
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G |
NEPRO |
nucleolus and neural progenitor protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041
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G |
NF1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30308447 |
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NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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G |
NPAS4 |
neuronal PAS domain protein 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
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G |
NSRP1 |
nuclear speckle splicing regulatory protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:34385670 |
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NCBI chr17:26,581,886...26,653,137
Ensembl chr17:27,100,683...27,171,043
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G |
NT5C2 |
5'-nucleotidase, cytosolic II |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
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G |
NUP188 |
nucleoporin 188 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:32275884 |
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NCBI chr 9:100,069,656...100,130,521
Ensembl chr 9:128,733,780...128,791,252
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G |
NUP214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:25741868 PMID:31178128 |
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NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
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G |
NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 PMID:25741868 |
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NCBI chr 6:115,486,422...115,521,317
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G |
ORC1 |
origin recognition complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358633 |
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NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653
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G |
OTX2 |
orthodenticle homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:19965921 PMID:25741868 PMID:28492532 |
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NCBI chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012
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G |
PAK3 |
p21 (RAC1) activated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr X:100,060,647...100,345,491
Ensembl chr X:110,672,664...110,797,992
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G |
PCLO |
piccolo presynaptic cytomatrix protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:74,714,364...75,126,518
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G |
PCNT |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
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G |
PDZD4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
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NCBI chr X:143,352,944...143,381,428
Ensembl chr X:153,240,182...153,267,874
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
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G |
PEX16 |
peroxisomal biogenesis factor 16 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:45,864,220...45,872,263
Ensembl chr11:46,355,950...46,364,543
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G |
PEX5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 |
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NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
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G |
PLEKHG2 |
pleckstrin homology and RhoGEF domain containing G2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940
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G |
PLK4 |
polo like kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
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G |
PLN |
phospholamban |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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G |
PNKP |
polynucleotide kinase 3'-phosphatase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20118933 |
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NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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G |
POC1A |
POC1 centriolar protein A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 3:52,016,372...52,096,073
Ensembl chr 3:53,245,162...53,324,579
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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G |
POLK |
DNA polymerase kappa |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:39,700,659...39,788,727
Ensembl chr 5:40,311,526...40,401,003
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G |
PPIL1 |
peptidylprolyl isomerase like 1 |
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ISO |
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MouseDO |
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NCBI chr 6:36,417,086...36,437,259
Ensembl chr 6:37,612,724...37,632,942
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G |
PQBP1 |
polyglutamine binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 PMID:15024694 PMID:16740914 |
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NCBI chr X:41,188,244...41,200,312
Ensembl chr X:49,053,030...49,058,585
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G |
PRDM16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
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G |
PRKDC |
protein kinase, DNA-activated, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
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G |
PSAT1 |
phosphoserine aminotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 |
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NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
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G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:92,886,918...92,959,611
Ensembl chr 8:95,084,103...95,156,104
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12717436 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15928039 PMID:15987685 PMID:16263833 PMID:16358218 PMID:16377799 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:18470943 PMID:18562489 PMID:19020799 PMID:19737548 PMID:19795160 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25595571 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30325180 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 PMID:33726816 More...
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NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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G |
PYCR1 |
pyrroline-5-carboxylate reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532 |
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NCBI chr17:76,337,991...76,348,207
Ensembl chr17:82,040,824...82,045,686
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G |
PYCR2 |
pyrroline-5-carboxylate reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:201,381,270...201,385,703
Ensembl chr 1:206,381,539...206,386,002
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
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NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
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G |
RAB11A |
RAB11A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
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G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
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G |
RAD51C |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32566746 PMID:32980694 PMID:33309985 |
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NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
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G |
RAG1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
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G |
RBBP8 |
RB binding protein 8, endonuclease |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
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G |
RBM28 |
RNA binding motif protein 28 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 7:120,211,198...120,335,079
Ensembl chr 7:132,955,078...132,988,576
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G |
RET |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 |
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NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
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G |
RFX6 |
regulatory factor X6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
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G |
RFX7 |
regulatory factor X7 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:35,057,195...35,211,897
Ensembl chr15:53,376,869...53,527,541
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G |
RNF17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
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NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
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G |
ROS1 |
ROS proto-oncogene 1, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
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G |
RPGRIP1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
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G |
RPGRIP1L |
RPGRIP1 like |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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G |
RREB1 |
ras responsive element binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:6,945,205...7,089,757
Ensembl chr 6:7,257,875...7,356,544
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G |
RSPH4A |
radial spoke head component 4A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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Ensembl chr20:61,581,331...61,618,718
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G |
RTTN |
rotatin |
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ISO |
ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26608784 PMID:26846091 PMID:28492532 |
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NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
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G |
RWDD1 |
RWD domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373
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G |
SALL1 |
spalt like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
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G |
SAMD9L |
sterile alpha motif domain containing 9 like |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:85,086,661...85,104,983
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G |
SBF1 |
SET binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:23749797 PMID:25741868 PMID:28492532 |
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NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
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G |
SCAMP4 |
secretory carrier membrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr19:914,220...925,244
Ensembl chr19:1,893,577...1,904,452
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G |
SCARF2 |
scavenger receptor class F member 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:14672992 PMID:17347258 PMID:25741868 PMID:28492532 PMID:32581362 |
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NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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G |
SCRIB |
scribble planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:140,544,797...140,571,078
Ensembl chr 8:143,557,722...143,582,353
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G |
SEC24C |
SEC24 homolog C, COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:70,267,194...70,295,116
Ensembl chr10:72,943,116...72,968,027
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G |
SETD5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
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G |
SIM1 |
SIM bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:98,221,476...98,301,215
Ensembl chr 6:102,104,783...102,181,062
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G |
SIN3A |
SIN3 transcription regulator family member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27399968 |
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NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
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G |
SLC12A5 |
solute carrier family 12 member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132
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G |
SLC13A5 |
solute carrier family 13 member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
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G |
SLC1A4 |
solute carrier family 1 member 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
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G |
SLC25A19 |
solute carrier family 25 member 19 |
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ISO |
Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A |
RGD |
PMID:12185364 |
RGD:1624242 |
NCBI chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
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G |
SLC2A1 |
solute carrier family 2 member 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 PMID:25741868 PMID:26193382 PMID:26216499 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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G |
SLC35F1 |
solute carrier family 35 member F1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
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G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
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G |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
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G |
SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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ISO |
ClinVar Annotator: match by term: Congenital microcephaly |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
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NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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G |
SMC1A |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:16604071 PMID:17273969 PMID:24124034 PMID:25125236 PMID:25741868 PMID:28425213 PMID:28492532 More...
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NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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G |
SMO |
smoothened, frizzled class receptor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
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G |
SNAP25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:33299146 |
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NCBI chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841
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G |
SPOCK1 |
SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416
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G |
SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
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G |
SPTLC1 |
serine palmitoyltransferase long chain base subunit 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:63,087,798...63,174,977
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G |
SRCAP |
Snf2 related CREBBP activator protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312
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G |
STAMBP |
STAM binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
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NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
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G |
STIL |
STIL centriolar assembly protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
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NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
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G |
STT3A |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596
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G |
STXBP1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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G |
SVBP |
small vasohibin binding protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:30607023 PMID:31363758 |
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NCBI chr 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
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G |
TAF2 |
TATA-box binding protein associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:116,421,520...116,523,138
Ensembl chr 8:119,170,327...119,271,405
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G |
TAF8 |
TATA-box binding protein associated factor 8 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:29648665 PMID:35759269 |
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NCBI chr 6:41,631,483...41,672,988
Ensembl chr 6:42,933,107...42,978,271
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G |
TAT |
tyrosine aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886
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G |
TBC1D32 |
TBC1 domain family member 32 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 6:118,884,928...119,139,138
Ensembl chr 6:123,022,008...123,273,810
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G |
TBCD |
tubulin folding cofactor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 PMID:27666374 |
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NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223
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G |
TBCE |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613
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G |
TBL2 |
transducin beta like 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
Ensembl chr 7:80,721,616...80,730,685
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G |
TBX2 |
T-box transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189
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G |
TCF4 |
transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29655203 PMID:29695756 PMID:32581362 More...
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NCBI chr18:48,603,069...48,969,010
Ensembl chr18:51,938,357...52,352,030
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G |
TCOF1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:145,781,915...145,824,312
Ensembl chr 5:151,786,944...151,825,549
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G |
TCTN2 |
tectonic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:121,256,675...121,293,997
Ensembl chr12:125,482,294...125,518,903
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G |
TECPR2 |
tectonin beta-propeller repeat containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
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G |
TELO2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
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G |
TERT |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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Ensembl chr 5:1,300,960...1,338,872
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G |
TFAP2C |
transcription factor AP-2 gamma |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr20:52,966,907...52,981,024
Ensembl chr20:54,255,489...54,265,432
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G |
TMEM67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
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G |
TNNT3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
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G |
TRAIP |
TRAF interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26595769 |
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NCBI chr 3:49,760,528...49,789,637
Ensembl chr 3:50,996,647...51,025,241
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G |
TRAPPC3L |
trafficking protein particle complex subunit 3L |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
|
NCBI chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836
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G |
TRIO |
trio Rho guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:32581362 |
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NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124
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G |
TRPS1 |
transcriptional repressor GATA binding 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:112,079,147...112,339,567
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G |
TSEN2 |
tRNA splicing endonuclease subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18711368 |
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NCBI chr 3:12,410,885...12,463,932
Ensembl chr 3:12,759,375...12,800,201
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G |
TSEN34 |
tRNA splicing endonuclease subunit 34 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18711368 |
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NCBI chr19:51,121,560...51,125,768
Ensembl chr19:59,964,174...59,968,453
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G |
TSEN54 |
tRNA splicing endonuclease subunit 54 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
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G |
TTI2 |
TELO2 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 8:32,813,830...32,828,134
Ensembl chr 8:30,000,487...30,014,742
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G |
TUBA8 |
tubulin alpha 8 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31481326 |
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NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
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G |
TUBB |
tubulin beta class I |
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ISO |
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 |
MouseDO |
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NCBI chr 6:30,465,367...30,470,451
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G |
TUBB4A |
tubulin beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25085639 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28973395 PMID:32581362 More...
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NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
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G |
TUBG1 |
tubulin gamma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23603762 |
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NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
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G |
TUBGCP5 |
tubulin gamma complex component 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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Ensembl chr15:20,403,757...20,444,851
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G |
TUBGCP6 |
tubulin gamma complex component 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
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G |
UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725
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G |
UFSP2 |
UFM1 specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
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G |
UNC80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr2B:97,029,102...97,257,181
Ensembl chr2B:215,434,343...215,660,423
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G |
VARS1 |
valyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:30275004 |
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NCBI chr 6:31,438,663...31,456,926
Ensembl chr 6:32,325,931...32,343,276
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G |
VGLL2 |
vestigial like family member 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
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G |
VLDLR |
very low density lipoprotein receptor |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
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G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
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G |
VPS33B |
VPS33B late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327
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G |
VPS53 |
VPS53 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:400,048...576,119
Ensembl chr17:414,782...604,705
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G |
WDFY3 |
WD repeat and FYVE domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
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G |
WDR11 |
WD repeat domain 11 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:34413497 |
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NCBI chr10:117,430,788...117,488,778
Ensembl chr10:120,845,695...120,903,540
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G |
WDR62 |
WD repeat domain 62 |
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ISO |
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive |
ClinVar |
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NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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G |
WDR81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:32581362 |
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NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
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G |
XIRP1 |
xin actin binding repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Classical primary microcephaly |
ClinVar |
PMID:25558065 PMID:25741868 |
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NCBI chr 3:39,079,712...39,089,098
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G |
YME1L1 |
YME1 like 1 ATPase |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:27,220,951...27,263,841
Ensembl chr10:27,584,099...27,626,453
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G |
ZC4H2 |
zinc finger C4H2-type containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26056227 |
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NCBI chr X:54,043,329...54,162,351
Ensembl chr X:64,121,109...64,182,331
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G |
ZNF276 |
zinc finger protein 276 |
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ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 |
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NCBI chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192
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G |
ZNF668 |
zinc finger protein 668 |
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ISO |
ClinVar Annotator: match by term: Progressive microcephaly |
ClinVar |
PMID:26633546 PMID:34313816 |
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NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494
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G |
ZUP1 |
zinc finger containing ubiquitin peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly |
ClinVar |
PMID:24824130 |
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NCBI chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081
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G |
TUBGCP6 |
tubulin gamma complex component 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability |
ClinVar |
PMID:25344692 PMID:25741868 PMID:28492532 |
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NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
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G |
KIF11 |
kinesin family member 11 |
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ISO |
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
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G |
PLK4 |
polo like kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
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G |
TUBGCP4 |
tubulin gamma complex component 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:22,332,076...22,371,360
Ensembl chr15:40,486,665...40,522,996
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G |
TUBGCP6 |
tubulin gamma complex component 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 |
OMIM ClinVar |
PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 PMID:25741868 PMID:28492532 PMID:31077665 PMID:36307859 More...
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NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
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G |
PLK4 |
polo like kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 PMID:28492532 PMID:30842647 More...
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NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
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G |
TP53BP1 |
tumor protein p53 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 |
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NCBI chr15:22,364,696...22,472,499
Ensembl chr15:40,519,012...40,626,741
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G |
TUBGCP4 |
tubulin gamma complex component 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 |
OMIM ClinVar |
PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 |
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NCBI chr15:22,332,076...22,371,360
Ensembl chr15:40,486,665...40,522,996
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G |
RBBP8 |
RB binding protein 8, endonuclease |
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ISO |
ClinVar Annotator: match by term: Jawad syndrome |
OMIM ClinVar |
PMID:18071751 PMID:21998596 PMID:24389050 PMID:25741868 PMID:27848944 PMID:28492532 PMID:32379725 More...
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NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
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G |
KIF11 |
kinesin family member 11 |
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ISO |
ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
OMIM ClinVar |
PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 PMID:22653704 PMID:24281367 PMID:25115524 PMID:25124931 PMID:25741868 PMID:25934493 PMID:26472404 PMID:26566857 PMID:27212378 PMID:28492532 PMID:30452590 PMID:30792901 PMID:31077665 PMID:31130284 PMID:32214227 PMID:33137195 PMID:33619735 PMID:34128965 More...
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NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
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G |
CDH4 |
cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Simplified gyral pattern |
ClinVar |
PMID:29706646 |
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NCBI chr20:57,595,158...58,306,115
Ensembl chr20:58,943,614...59,629,795
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G |
KCNA4 |
potassium voltage-gated channel subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum |
OMIM ClinVar |
PMID:23181898 PMID:25741868 PMID:27582084 |
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NCBI chr11:29,975,072...29,991,716
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G |
MSMO1 |
methylsterol monooxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis |
OMIM ClinVar |
PMID:21285510 PMID:24144731 |
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NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
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G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30824121 |
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NCBI chr11:3,026,787...3,083,170
Ensembl chr11:3,053,551...3,109,509
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G |
ARK2C |
arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,615,759...39,742,492
Ensembl chr18:43,244,066...43,274,212
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G |
ARK2N |
arkadia (RNF111) N-terminal like PKA signaling regulator 2N |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,455,256...39,548,926
Ensembl chr18:42,990,152...43,082,789
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G |
ATP5F1A |
ATP synthase F1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
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G |
ELOA2 |
elongin A2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:40,418,709...40,422,812
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G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788
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G |
HAUS1 |
HAUS augmin like complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,386,522...39,409,747
Ensembl chr18:42,922,570...42,945,766
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G |
HDHD2 |
haloacid dehalogenase like hydrolase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:40,495,385...40,538,527
Ensembl chr18:43,855,696...43,898,765
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G |
IER3IP1 |
immediate early response 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:9536098 PMID:16972080 PMID:17576681 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 PMID:25741868 PMID:28492532 PMID:28711742 PMID:31264968 More...
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NCBI chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901
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G |
KATNAL2 |
katanin catalytic subunit A1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:40,196,170...40,492,175
Ensembl chr18:43,758,249...43,850,517
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G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921
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G |
PIAS2 |
protein inhibitor of activated STAT 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:40,067,901...40,196,078
Ensembl chr18:43,622,455...43,728,675
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G |
PSTPIP2 |
proline-serine-threonine phosphatase interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,265,559...39,364,422
Ensembl chr18:42,804,773...42,892,493
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G |
SETBP1 |
SET binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453
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G |
SIGLEC15 |
sialic acid binding Ig like lectin 15 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,111,697...39,125,631
Ensembl chr18:42,658,534...42,663,773
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G |
SKOR2 |
SKI family transcriptional corepressor 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:40,594,124...40,639,720
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G |
SLC14A1 |
solute carrier family 14 member 1 (Kidd blood group) |
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ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:39,007,475...39,035,489
Ensembl chr18:42,550,210...42,575,723
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G |
SLC14A2 |
solute carrier family 14 member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:38,766,994...38,966,124
Ensembl chr18:42,448,067...42,506,485
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G |
SMAD2 |
SMAD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
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G |
ST8SIA5 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr18:39,958,239...40,036,282
Ensembl chr18:43,492,025...43,569,857
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G |
IER3IP1 |
immediate early response 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 |
OMIM ClinVar |
PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 PMID:25741868 PMID:28492532 PMID:28711742 More...
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NCBI chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901
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G |
YIPF5 |
Yip1 domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:33164986 |
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NCBI chr 5:139,557,911...139,570,364
Ensembl chr 5:145,612,807...145,625,280
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G |
CTU2 |
cytosolic thiouridylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome |
OMIM ClinVar |
PMID:25081361 PMID:25741868 PMID:26633546 PMID:27480277 PMID:28492532 PMID:31301155 More...
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NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
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PIEZO1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
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ISO |
ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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WDR4 |
WD repeat domain 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations | ClinVar Annotator: match by term: WDR4-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26416026 PMID:28492532 |
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NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
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TOP3A |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30057030 |
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NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135
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NUSAP1 |
nucleolar and spindle associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695
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PNKP |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay |
OMIM ClinVar |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23708187 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27125728 PMID:27232581 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31167812 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32347949 PMID:32504494 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:35354845 More...
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NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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TRMT10A |
tRNA methyltransferase 10A |
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ISO |
ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 |
OMIM ClinVar |
PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 |
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NCBI chr 4:91,970,440...91,987,722
Ensembl chr 4:102,631,501...102,648,454
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PPP1R15B |
protein phosphatase 1 regulatory subunit 15B |
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ISO |
ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 |
OMIM ClinVar |
PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 |
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NCBI chr 1:180,002,895...180,014,956
Ensembl chr 1:184,293,640...184,302,316
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G |
RTTN |
rotatin |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition |
OMIM ClinVar |
PMID:16199547 PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26846091 PMID:26940245 PMID:28492532 PMID:29883675 PMID:30121372 More...
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NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
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STAMBP |
STAM binding protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition |
OMIM ClinVar |
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 More...
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NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
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DONSON |
DNA replication fork stabilization factor DONSON |
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ISO |
ClinVar Annotator: match by term: Microcephaly-micromelia syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28191891 PMID:28331220 PMID:28492532 PMID:28630177 PMID:31407851 PMID:34645488 More...
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NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132
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NDE1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Hydranencephaly and microcephaly |
OMIM ClinVar |
PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 PMID:25741868 PMID:28492532 PMID:30637988 More...
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Ensembl chr16:15,948,881...16,027,986
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WDR81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Microlissencephaly |
ClinVar |
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NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
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DPH1 |
diphthamide biosynthesis 1 |
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ISO |
OMIM:247200 |
MouseDO |
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NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094
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HIC1 |
HIC ZBTB transcriptional repressor 1 |
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ISO |
OMIM:247200 |
MouseDO |
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NCBI chr17:2,045,960...2,051,483
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MNT |
MAX network transcriptional repressor |
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ISO |
OMIM:247200 |
MouseDO |
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NCBI chr17:2,375,414...2,392,423
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PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
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ISO |
OMIM:247200 |
MouseDO |
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NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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YWHAE |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
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ISO |
OMIM:247200 |
MouseDO |
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NCBI chr17:1,332,004...1,387,120
Ensembl chr17:1,229,080...1,285,470
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SLF2 |
SMC5-SMC6 complex localization factor 2 |
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ISO |
ClinVar Annotator: match by term: Atelis syndrome 1 |
OMIM ClinVar |
PMID:36333305 |
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NCBI chr10:97,511,398...97,566,386
Ensembl chr10:100,989,044...101,042,730
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SMC5 |
structural maintenance of chromosomes 5 |
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ISO |
ClinVar Annotator: match by term: Atelis syndrome 2 |
OMIM ClinVar |
PMID:36333305 |
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NCBI chr 9:54,446,863...54,543,249
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ADNP |
activity dependent neuroprotector homeobox |
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ISO |
ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
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ARHGAP15 |
Rho GTPase activating protein 15 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr2B:16,067,081...16,706,372
Ensembl chr2B:147,217,528...147,855,517
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GTDC1 |
glycosyltransferase like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
PMID:12920073 |
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NCBI chr2B:15,512,420...15,899,477
Ensembl chr2B:148,026,117...148,312,426
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G |
HNMT |
histamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
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KYNU |
kynureninase |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr2B:16,792,401...16,947,766
Ensembl chr2B:146,975,995...147,132,634
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LRP1B |
LDL receptor related protein 1B |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243
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NXPH2 |
neurexophilin 2 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr2B:21,071,974...21,184,767
Ensembl chr2B:142,745,699...142,751,017
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SPOPL |
speckle type BTB/POZ protein like |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr2B:21,280,143...21,351,547
Ensembl chr2B:142,577,019...142,648,257
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THSD7B |
thrombospondin type 1 domain containing 7B |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome |
ClinVar |
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NCBI chr2B:22,185,005...23,099,445
Ensembl chr2B:140,948,485...141,744,341
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition |
OMIM ClinVar |
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 PMID:11592033 PMID:11595972 PMID:11891681 PMID:12784289 PMID:12920073 PMID:15121779 PMID:15908750 PMID:16053902 PMID:16088920 PMID:16199547 PMID:16532472 PMID:16688751 PMID:17203459 PMID:17576681 PMID:17932455 PMID:17958891 PMID:18182442 PMID:18414213 PMID:19006215 PMID:19215041 PMID:19842203 PMID:20428734 PMID:23243526 PMID:23322667 PMID:23418865 PMID:23466526 PMID:23523603 PMID:24092421 PMID:24401652 PMID:24715670 PMID:25123255 PMID:25326635 PMID:25326637 PMID:25497574 PMID:25608121 PMID:25627829 PMID:25741868 PMID:25899569 PMID:25931334 PMID:26467025 PMID:26633542 PMID:26661037 PMID:26809768 PMID:26993267 PMID:27831545 PMID:27848944 PMID:28166811 PMID:28492532 PMID:28501473 PMID:28708303 PMID:29089047 PMID:29159939 PMID:29263819 PMID:29300384 PMID:30083364 PMID:30315573 PMID:31130284 PMID:31178897 PMID:31376723 PMID:32860008 PMID:34298581 More...
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NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
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G |
SPOP |
speckle type BTB/POZ protein |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies |
OMIM ClinVar |
PMID:25741868 PMID:32109420 |
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NCBI chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623
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PHGDH |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
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NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
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PSAT1 |
phosphoserine aminotransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
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G |
DTYMK |
deoxythymidylate kinase |
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ISO |
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly |
OMIM ClinVar |
PMID:31271740 PMID:34918187 PMID:34926941 |
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NCBI chr2B:128,952,009...128,963,640
Ensembl chr2B:247,740,881...247,752,504
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G |
SVBP |
small vasohibin binding protein |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly |
OMIM ClinVar |
PMID:25741868 PMID:30607023 PMID:31363758 |
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NCBI chr 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
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G |
TRAPPC4 |
trafficking protein particle complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy |
OMIM ClinVar |
PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169 |
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NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395
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ADARB1 |
adenosine deaminase RNA specific B1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
OMIM ClinVar |
PMID:25741868 PMID:32220291 PMID:32719099 |
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NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
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G |
CPSF3 |
cleavage and polyadenylation specific factor 3 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
ClinVar |
PMID:35121750 |
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NCBI chr2A:9,413,517...9,462,758
Ensembl chr2A:9,576,871...9,626,193
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TTI1 |
TELO2 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities |
OMIM ClinVar |
PMID:26539891 PMID:36724785 |
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NCBI chr20:34,304,137...34,354,615
Ensembl chr20:35,417,502...35,467,918
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G |
WARS1 |
tryptophanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:34585293 PMID:35790048 PMID:35815345 |
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NCBI chr14:80,954,852...80,996,316
Ensembl chr14:100,268,845...100,310,662
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G |
DYNC1I2 |
dynein cytoplasmic 1 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies |
OMIM ClinVar |
PMID:25741868 PMID:31079899 |
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NCBI chr2B:58,977,379...59,039,514
Ensembl chr2B:176,436,471...176,498,638
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G |
ADGRG1 |
adhesion G protein-coupled receptor G1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221
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G |
ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
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G |
CDKL5 |
cyclin dependent kinase like 5 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 |
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NCBI chr X:11,047,357...11,261,172
Ensembl chr X:18,492,329...18,638,735
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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G |
CREBBP |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:25741868 |
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NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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G |
DCX |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 More...
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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G |
DDX3X |
DEAD-box helicase 3 X-linked |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837
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DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr22:12,774,147...12,929,261
Ensembl chr22:30,630,110...30,781,578
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G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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G |
FLNA |
filamin A |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr X:143,799,088...143,825,282
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G |
FOXG1 |
forkhead box G1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 PMID:25741868 PMID:26344814 PMID:28492532 PMID:28661489 PMID:28851325 PMID:30533527 More...
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G |
GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25741868 PMID:28102150 PMID:28492532 PMID:29124671 PMID:29358611 PMID:30544257 More...
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NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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G |
KCNC1 |
potassium voltage-gated channel subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:28492532 |
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NCBI chr11:17,788,010...17,936,591
Ensembl chr11:17,472,158...17,517,892
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G |
KIF2A |
kinesin family member 2A |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
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G |
PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:28492532 |
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NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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G |
PCDH19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:26704558 PMID:28492532 |
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NCBI chr X:89,504,404...89,622,354
Ensembl chr X:99,643,595...99,759,631
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:19366826 PMID:22228622 PMID:22729224 PMID:22949682 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:28502725 PMID:28941273 PMID:30231930 PMID:32595695 PMID:33077954 More...
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NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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G |
PNKP |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:33654647 More...
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NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
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RNF113A |
ring finger protein 113A |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr X:108,934,081...108,935,376
Ensembl chr X:119,328,911...119,329,942
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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G |
SCN8A |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35701389 |
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NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
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TUBB2A |
tubulin beta 2A class IIa |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
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NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
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WDR62 |
WD repeat domain 62 |
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ISO |
ClinVar Annotator: match by term: Abnormality of the cerebrum |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 PMID:33589534 PMID:33604570 More...
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NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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SARS1 |
seryl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ClinVar Annotator: match by term: SARS1-related disorders |
OMIM ClinVar |
PMID:25741868 PMID:28236339 PMID:34570399 PMID:35790048 PMID:36004946 PMID:36041817 More...
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NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704
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GEMIN4 |
gem nuclear organelle associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities |
OMIM ClinVar |
PMID:25558065 PMID:25741868 PMID:27878435 PMID:30237576 |
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NCBI chr17:713,806...721,374
Ensembl chr17:637,677...644,438
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DOHH |
deoxyhypusine hydroxylase |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment |
OMIM ClinVar |
PMID:25741868 PMID:35858628 |
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NCBI chr19:2,517,866...2,527,786
Ensembl chr19:3,468,094...3,474,038
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TMX2 |
thioredoxin related transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
OMIM ClinVar |
PMID:25741868 PMID:31586943 PMID:31735293 |
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NCBI chr11:52,953,360...52,979,685
Ensembl chr11:56,423,772...56,449,402
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MTHFS |
methenyltetrahydrofolate synthetase |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:30031689 |
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NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206
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PSMB1 |
proteasome 20S subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language |
ClinVar OMIM |
PMID:32129449 |
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NCBI chr 6:168,695,047...168,713,257
Ensembl chr 6:173,781,040...173,799,342
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DYNC1I2 |
dynein cytoplasmic 1 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
ClinVar |
PMID:25741868 PMID:31079899 |
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NCBI chr2B:58,977,379...59,039,514
Ensembl chr2B:176,436,471...176,498,638
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PRUNE1 |
prune exopolyphosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies |
OMIM ClinVar |
PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 PMID:29797509 PMID:29940663 PMID:30556349 PMID:33105479 More...
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NCBI chr 1:126,357,779...126,385,120
Ensembl chr 1:130,006,097...130,032,985
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NARS1 |
asparaginyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32738225 PMID:32788587 PMID:33001864 |
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NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
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G |
NARS1 |
asparaginyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32738225 |
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NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
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EXOC8 |
exocyst complex component 8 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32103185 |
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NCBI chr 1:206,884,334...206,889,753
Ensembl chr 1:211,911,802...211,913,979
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VPS50 |
VPS50 subunit of EARP/GARPII complex |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis |
OMIM ClinVar |
PMID:34037727 |
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NCBI chr 7:85,188,960...85,315,452
Ensembl chr 7:98,786,809...98,908,113
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HECW2 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
ClinVar |
PMID:23545411 PMID:25741868 PMID:27389779 |
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NCBI chr2B:83,445,401...83,838,065
Ensembl chr2B:201,351,023...201,584,044
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PLAA |
phospholipase A2 activating protein |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
OMIM ClinVar |
PMID:25741868 PMID:28007986 PMID:28413018 PMID:28492532 PMID:31322726 |
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NCBI chr 9:26,749,607...26,793,580
Ensembl chr 9:27,357,437...27,401,103
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TRAPPC4 |
trafficking protein particle complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
ClinVar |
PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 |
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NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395
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PPFIBP1 |
PPFIA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities |
ClinVar OMIM |
PMID:25741868 PMID:35830857 |
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NCBI chr12:58,616,002...58,787,280
Ensembl chr12:61,234,873...61,296,894
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RAD50 |
RAD50 double strand break repair protein |
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ISO |
ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY |
OMIM ClinVar |
PMID:1887849 PMID:9536098 PMID:10892749 PMID:14684699 PMID:15855896 PMID:16199547 PMID:16385572 PMID:16474176 PMID:17576681 PMID:18281469 PMID:19190165 PMID:19383352 PMID:19409520 PMID:19584272 PMID:19638463 PMID:19904603 PMID:19917125 PMID:20571869 PMID:20805886 PMID:20981092 PMID:21757780 PMID:21778326 PMID:21811815 PMID:22216297 PMID:23555315 PMID:24079363 PMID:24093751 PMID:24123366 PMID:24448499 PMID:24497844 PMID:24549055 PMID:24763289 PMID:24853695 PMID:24894818 PMID:25117502 PMID:25151137 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26023681 PMID:26094658 PMID:26467025 PMID:26483394 PMID:26564480 PMID:26635394 PMID:26689913 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:27009842 PMID:27016235 PMID:27153395 PMID:27498913 PMID:27720647 PMID:27732944 PMID:27782108 PMID:27783279 PMID:27844240 PMID:27884173 PMID:27913932 PMID:27997549 PMID:28050010 PMID:28051113 PMID:28102005 PMID:28123851 PMID:28152038 PMID:28202063 PMID:28376765 PMID:28492532 PMID:28541631 PMID:28550065 PMID:28591191 PMID:28687971 PMID:28709830 PMID:28715532 PMID:28821472 PMID:28873162 PMID:28888541 PMID:28961279 PMID:29143133 PMID:29338689 PMID:29368209 PMID:29484706 PMID:29506128 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29726012 PMID:29752822 PMID:29785153 PMID:29891727 PMID:29895855 PMID:29926297 PMID:29945567 PMID:29961768 PMID:30067863 PMID:30093976 PMID:30267214 PMID:30283497 PMID:30306255 PMID:30441849 PMID:30613976 PMID:30680046 PMID:30755392 PMID:30788456 PMID:30924587 PMID:30982232 PMID:31159747 PMID:31308508 PMID:31345636 PMID:31360874 PMID:31512090 PMID:31589614 PMID:31666926 PMID:31721094 PMID:31742824 PMID:31794323 PMID:31921681 PMID:31980526 PMID:32008151 PMID:32019284 PMID:32077636 PMID:32212377 PMID:32295079 PMID:32332016 PMID:32338768 PMID:32522261 PMID:32566746 PMID:32606146 PMID:32658311 PMID:32832836 PMID:32854451 PMID:32984025 PMID:33134171 PMID:33378670 PMID:33421217 PMID:33471991 PMID:33563768 PMID:33606809 PMID:33606978 PMID:34371384 PMID:34567246 PMID:34572942 PMID:34716202 PMID:35089076 PMID:35186721 PMID:35250968 PMID:35534218 PMID:35884469 PMID:36135357 PMID:36139606 PMID:36315513 PMID:37262986 More...
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NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261
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BRWD3 |
bromodomain and WD repeat domain containing 3 |
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ISO |
ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93 |
OMIM ClinVar |
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30628072 PMID:36414205 PMID:36937954 More...
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NCBI chr X:69,718,532...69,857,507
Ensembl chr X:79,832,517...79,964,187
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DNAJC2 |
DnaJ heat shock protein family (Hsp40) member C2 |
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ISO |
ClinVar Annotator: match by term: Norman-Roberts syndrome |
ClinVar |
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 |
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NCBI chr 7:95,303,823...95,336,085
Ensembl chr 7:108,048,307...108,080,127
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PMPCB |
peptidase, mitochondrial processing subunit beta |
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ISO |
ClinVar Annotator: match by term: Norman-Roberts syndrome |
ClinVar |
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 |
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NCBI chr 7:95,288,747...95,320,294
Ensembl chr 7:108,033,235...108,050,302
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G |
PSMC2 |
proteasome 26S subunit, ATPase 2 |
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ISO |
ClinVar Annotator: match by term: Norman-Roberts syndrome |
ClinVar |
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 |
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NCBI chr 7:95,338,743...95,359,353
Ensembl chr 7:108,083,203...108,103,494
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RELN |
reelin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type) | ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition |
OMIM ClinVar |
PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 PMID:14593429 PMID:16199547 PMID:16311013 PMID:16958033 PMID:17124408 PMID:17366345 PMID:17431900 PMID:17576681 PMID:17955477 PMID:18414213 PMID:19319887 PMID:19435634 PMID:20697953 PMID:21549172 PMID:23287318 PMID:23334996 PMID:23757202 PMID:24267886 PMID:24385848 PMID:24467814 PMID:24828792 PMID:24848745 PMID:25620207 PMID:25621899 PMID:25640679 PMID:25648840 PMID:25741868 PMID:26046367 PMID:26302956 PMID:26459092 PMID:26467025 PMID:26901136 PMID:27000652 PMID:27884173 PMID:28419454 PMID:28454995 PMID:28492532 PMID:28677532 PMID:28783747 PMID:29056246 PMID:29358611 PMID:29671837 PMID:29706646 PMID:29969175 PMID:30091983 PMID:30190612 PMID:30891068 PMID:31031587 PMID:31069529 PMID:31134136 PMID:31144778 PMID:31209962 PMID:31875159 PMID:32086284 PMID:33004838 PMID:33453592 PMID:33994118 PMID:34426522 PMID:34489640 PMID:34569441 PMID:35668055 PMID:36703223 More...
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NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
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SLC26A5 |
solute carrier family 26 member 5 |
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ISO |
ClinVar Annotator: match by term: Norman-Roberts syndrome |
ClinVar |
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 |
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NCBI chr 7:95,363,028...95,437,527
Ensembl chr 7:108,088,197...108,178,578
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LAMC3 |
laminin subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Cortical malformations, occipital |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 PMID:25741868 PMID:26633542 PMID:26802095 PMID:28492532 PMID:30266093 PMID:32902107 PMID:33639934 More...
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NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292
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TUBGCP2 |
tubulin gamma complex component 2 |
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ISO |
ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
OMIM ClinVar |
PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 |
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Ensembl chr10:134,187,115...134,214,693
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ARFGEF2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Periventricular laminar heterotopia |
ClinVar |
PMID:28492532 |
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NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
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ABCD1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,275,165...143,295,283
Ensembl chr X:153,162,412...153,182,424
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G |
ARHGAP4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,462,157...143,481,496
Ensembl chr X:153,349,050...153,367,709
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ATP2B3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445
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ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,870,421...143,878,288
Ensembl chr X:153,740,751...153,748,621
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G |
AVPR2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,458,693...143,461,945
Ensembl chr X:153,346,466...153,348,840
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BAG6 |
BAG cochaperone 6 |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia |
ClinVar |
PMID:31474318 |
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NCBI chr 6:31,300,126...31,313,829
Ensembl chr 6:32,190,037...32,204,321
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G |
BCAP31 |
B cell receptor associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,265,920...143,274,956
Ensembl chr X:153,137,992...153,161,628
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G |
BGN |
biglycan |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,045,298...143,059,892
Ensembl chr X:152,931,608...152,946,292
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G |
BRCC3 |
BRCA1/BRCA2-containing complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,550,320...144,592,795
Ensembl chr X:154,389,283...154,428,669
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G |
CCNQ |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,138,574...143,149,824
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G |
CLIC2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,742,839...144,851,524
Ensembl chr X:154,581,649...154,641,515
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G |
CMC4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,540,603...144,550,152
Ensembl chr X:154,379,485...154,388,932
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G |
CPA6 |
carboxypeptidase A6 |
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ISO |
ClinVar Annotator: match by term: Periventricular heterotopia |
ClinVar |
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 More...
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NCBI chr 8:63,962,991...64,285,840
Ensembl chr 8:65,624,306...65,946,848
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G |
DKC1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475
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G |
DNASE1L1 |
deoxyribonuclease 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,842,920...143,851,795
Ensembl chr X:153,712,054...153,725,868
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G |
DUSP9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,192,599...143,201,647
Ensembl chr X:153,084,555...153,088,208
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G |
EMD |
emerin |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:18854860 PMID:19396829 PMID:19846429 PMID:20730588 PMID:20871226 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,792,178...143,794,530
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G |
ERMARD |
ER membrane associated RNA degradation |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317
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G |
F8A1 |
coagulation factor VIII associated 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,366,123...144,367,842
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G |
F8A3 |
coagulation factor VIII associated 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,925,422...144,927,166
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G |
FAM3A |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,947,867...143,957,966
Ensembl chr X:153,817,983...153,828,152
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G |
FAM50A |
family with sequence similarity 50 member A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,885,931...143,892,435
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G |
FLNA |
filamin A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 |
OMIM ClinVar |
PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 PMID:9384614 PMID:9536098 PMID:9800904 PMID:9883725 PMID:10480214 PMID:10982489 PMID:10982965 PMID:11532987 PMID:11704759 PMID:11748843 PMID:11914408 PMID:11968085 PMID:11992261 PMID:12410386 PMID:12612583 PMID:14988809 PMID:15194946 PMID:15523633 PMID:15668422 PMID:15689435 PMID:15864382 PMID:15917206 PMID:15994863 PMID:16080119 PMID:16199547 PMID:16299064 PMID:16303888 PMID:16417552 PMID:16427346 PMID:16538226 PMID:16596676 PMID:16601897 PMID:16684786 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17152064 PMID:17264970 PMID:17546640 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:18854860 PMID:19006219 PMID:19377476 PMID:19396829 PMID:19773341 PMID:19846429 PMID:20014127 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20730588 PMID:20844545 PMID:20871226 PMID:20979190 PMID:21031081 PMID:21520333 PMID:21620354 PMID:21821884 PMID:21836662 PMID:21960593 PMID:22281021 PMID:22366253 PMID:22382802 PMID:22465605 PMID:22522697 PMID:23032111 PMID:23409742 PMID:23660394 PMID:23873601 PMID:24088041 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25167861 PMID:25326637 PMID:25614868 PMID:25649377 PMID:25686753 PMID:25741868 PMID:25817843 PMID:26059211 PMID:26061098 PMID:26188975 PMID:26404489 PMID:26467025 PMID:26471271 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27193221 PMID:27457812 PMID:27724990 PMID:28133863 PMID:28411558 PMID:28425981 PMID:28428218 PMID:28454995 PMID:28492532 PMID:28660794 PMID:28798025 PMID:28898549 PMID:28983057 PMID:29024177 PMID:29168297 PMID:29334594 PMID:29650765 PMID:29706646 PMID:29720203 PMID:29738522 PMID:30089473 PMID:30115950 PMID:30143558 PMID:30224736 PMID:30293987 PMID:30561107 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31919883 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:33994118 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:143,799,088...143,825,282
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G |
FUNDC2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,505,703...144,534,871
Ensembl chr X:154,345,251...154,374,743
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G |
G6PD |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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G |
GAB3 |
GRB2 associated binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,150,062...144,232,216
Ensembl chr X:153,993,736...154,038,529
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G |
GDI1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,878,690...143,885,251
Ensembl chr X:153,749,661...153,755,877
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G |
HAUS7 |
HAUS augmin like complex subunit 7 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,998,240...143,032,602
Ensembl chr X:152,881,714...152,907,620
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G |
HCFC1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999
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G |
IDH3G |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,336,460...143,345,274
Ensembl chr X:153,222,309...153,231,135
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G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
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G |
IRAK1 |
interleukin 1 receptor associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602
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G |
L1CAM |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228
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G |
LAGE3 |
L antigen family member 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,919,519...143,921,001
Ensembl chr X:153,790,672...153,792,549
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G |
LOC100985575 |
40-kDa huntingtin-associated protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,851,466...144,853,185
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G |
LOC100992822 |
histone H2A-Bbd type 2/3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,364,612...144,365,333
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G |
LOC112438438 |
paraneoplastic antigen Ma6E |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,947,214...142,949,820
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G |
LOC117977735 |
histone H2A-Bbd type 2/3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,849,954...144,850,606
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G |
MAGEA1 |
MAGE family member A1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,727,982...142,732,563
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G |
MAP1B |
microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia |
ClinVar |
PMID:25741868 PMID:29738522 PMID:30150678 |
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NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
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G |
MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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G |
MPP1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,258,416...144,285,658
Ensembl chr X:154,099,463...154,126,575
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G |
MTCP1 |
mature T cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,542,898...144,550,059
Ensembl chr X:154,382,737...154,385,472
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,484,008...143,489,904
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
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NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
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G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,405,340...142,443,723
Ensembl chr X:152,324,553...152,362,931
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G |
PDZD4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,352,944...143,381,428
Ensembl chr X:153,240,182...153,267,874
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G |
PLXNA3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,900,029...143,915,391
Ensembl chr X:153,772,700...153,786,167
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G |
PLXNB3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,314,794...143,330,066
Ensembl chr X:153,200,971...153,215,909
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G |
PNCK |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,220,029...143,224,659
Ensembl chr X:153,106,491...153,123,897
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G |
PNMA3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,631,788...142,635,768
Ensembl chr X:152,551,452...152,552,940
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G |
PNMA5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,564,200...142,566,785
Ensembl chr X:152,483,930...152,485,276
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G |
PNMA6A |
PNMA family member 6A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,645,639...142,649,841
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G |
RAB39B |
RAB39B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,728,535...144,734,893
Ensembl chr X:154,567,361...154,573,715
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G |
RENBP |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,490,103...143,499,487
Ensembl chr X:153,376,847...153,386,214
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G |
RPL10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,839,739...143,844,026
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G |
SLC10A3 |
solute carrier family 10 member 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,929,086...143,932,406
Ensembl chr X:153,800,354...153,803,653
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G |
SLC6A8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
SMIM9 |
small integral membrane protein 9 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,303,611...144,311,226
Ensembl chr X:154,144,752...154,151,903
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G |
SRPK3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,331,213...143,336,426
Ensembl chr X:153,216,794...153,222,273
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G |
SSR4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,344,286...143,349,272
Ensembl chr X:153,230,137...153,235,124
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G |
TAFAZZIN |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,853,054...143,863,491
Ensembl chr X:153,725,294...153,734,046
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G |
TEX28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,711,495...143,736,128
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G |
TKTL1 |
transketolase like 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,736,589...143,772,277
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G |
TMEM187 |
transmembrane protein 187 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,527,152...143,533,708
Ensembl chr X:153,419,802...153,420,587
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G |
TMLHE |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,956,906...145,081,204
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G |
TREX2 |
three prime repair exonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,995,051...142,998,178
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G |
UBL4A |
ubiquitin like 4A |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,925,494...143,928,444
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G |
VBP1 |
VHL binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:144,685,548...144,709,136
Ensembl chr X:154,504,795...154,547,773
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G |
ZFP92 |
ZFP92 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,961,821...142,976,962
Ensembl chr X:152,848,217...152,863,236
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G |
ZNF185 |
zinc finger protein 185 with LIM domain |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:142,472,497...142,547,835
Ensembl chr X:152,391,505...152,464,221
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G |
ARFGEF2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive |
OMIM ClinVar |
PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 PMID:23812912 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
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G |
DCHS1 |
dachsous cadherin-related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056717 |
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NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352
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G |
FAT4 |
FAT atypical cadherin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056717 |
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NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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G |
FLNA |
filamin A |
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ISO |
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 |
ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29334594 PMID:30089473 PMID:30143558 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:143,799,088...143,825,282
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G |
HCFC1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999
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G |
IRAK1 |
interleukin 1 receptor associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602
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MECP2 |
methyl-CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
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NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,484,008...143,489,904
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RENBP |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,490,103...143,499,487
Ensembl chr X:153,376,847...153,386,214
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TEX28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,711,495...143,736,128
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TKTL1 |
transketolase like 1 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,736,589...143,772,277
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TMEM187 |
transmembrane protein 187 |
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ISO |
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:143,527,152...143,533,708
Ensembl chr X:153,419,802...153,420,587
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ERMARD |
ER membrane associated RNA degradation |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 |
OMIM ClinVar |
PMID:24056535 PMID:25741868 PMID:28492532 |
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NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822
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NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 More...
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NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
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ARF1 |
ADP ribosylation factor 1 |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 |
OMIM ClinVar |
PMID:25741868 PMID:28868155 |
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NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105
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MAP1B |
microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: MAP1B-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29738522 PMID:30150678 PMID:30979967 PMID:31317654 PMID:33268592 More...
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NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
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ADAM30 |
ADAM metallopeptidase domain 30 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,630,734...82,633,448
Ensembl chr 1:117,628,573...117,631,026
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G |
HAO2 |
hydroxyacid oxidase 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 1:83,160,326...83,185,688
Ensembl chr 1:118,157,037...118,182,957
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HMGCS2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
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G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124
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NOTCH2 |
notch receptor 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
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PHGDH |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
OMIM ClinVar |
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:22886422 PMID:24836451 PMID:25152457 PMID:25741868 PMID:25913727 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28440900 PMID:28492532 PMID:28903583 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:31847883 PMID:32404165 PMID:32579715 PMID:33087887 PMID:33565074 PMID:33726816 PMID:33758422 PMID:34055682 PMID:36308023 More...
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NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
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REG4 |
regenerating family member 4 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,735,390...82,753,262
Ensembl chr 1:117,733,515...117,751,044
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TBX15 |
T-box transcription factor 15 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 1:83,556,763...83,663,453
Ensembl chr 1:118,553,638...118,659,379
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G |
WARS2 |
tryptophanyl tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 1:83,405,595...83,515,718
Ensembl chr 1:118,402,385...118,516,099
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ZNF697 |
zinc finger protein 697 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 1:82,898,848...82,927,622
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MAX |
MYC associated factor X |
susceptibility |
ISO |
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OMIM |
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NCBI chr14:45,588,366...45,683,828
Ensembl chr14:64,535,120...64,562,671
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STRADA |
STE20 related adaptor alpha |
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ISO |
ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 PMID:25741868 PMID:27170158 PMID:28492532 PMID:29358611 PMID:33605605 PMID:35830182 More...
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NCBI chr17:57,783,114...57,822,056
Ensembl chr17:62,929,065...62,967,021
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AKT3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
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NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
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ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:25741868 PMID:31608932 |
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NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
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G |
LAMA2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 |
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NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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G |
LAMA5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:28492532 PMID:29706646 |
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NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765
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G |
LINGO4 |
leucine rich repeat and Ig domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:29706646 |
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NCBI chr 1:127,154,152...127,164,591
Ensembl chr 1:130,803,557...130,805,338
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:25741868 |
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NCBI chr X:6,296,597...6,376,197
Ensembl chr X:13,611,304...13,664,512
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:25741868 PMID:28235671 PMID:28492532 PMID:29466837 PMID:29740860 PMID:30146301 PMID:30904718 PMID:32515017 PMID:34081427 More...
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NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
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G |
SETD5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria |
ClinVar |
PMID:32581362 |
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NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
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G |
WDR62 |
WD repeat domain 62 |
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ISO |
DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) |
RGD |
PMID:21834044 |
RGD:11541050 |
NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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G |
TUBA8 |
tubulin alpha 8 |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia |
ClinVar |
PMID:18414213 PMID:19896110 PMID:20466094 PMID:25741868 PMID:26467025 PMID:28388629 PMID:28492532 PMID:34704371 PMID:34853893 More...
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NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
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G |
COL3A1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome |
OMIM ClinVar |
PMID:2049575 PMID:2235526 PMID:7695699 PMID:8218237 PMID:9050868 PMID:9536098 PMID:11577371 PMID:12131463 PMID:17576681 PMID:18272325 PMID:19344236 PMID:19455184 PMID:21086191 PMID:21984974 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24922459 PMID:25205403 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25834947 PMID:25846194 PMID:26017485 PMID:26332594 PMID:27011056 PMID:27964749 PMID:28258187 PMID:28492532 PMID:28742248 PMID:28748566 PMID:29192238 PMID:29650765 PMID:30374176 PMID:30919682 PMID:30999998 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31719132 PMID:33125268 PMID:36103205 More...
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NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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G |
PAH |
phenylalanine hydroxylase |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
ClinVar |
PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 PMID:9399896 PMID:9634518 PMID:9781015 PMID:10394930 PMID:11385716 PMID:11524738 PMID:11696894 PMID:12655546 PMID:12655553 PMID:16198137 PMID:16765994 PMID:17924342 PMID:17935162 PMID:18493213 PMID:21953985 PMID:22763404 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23430918 PMID:23500595 PMID:24350308 PMID:24368688 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 More...
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NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726
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G |
PI4KA |
phosphatidylinositol 4-kinase alpha |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
OMIM ClinVar |
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 PMID:34415322 More...
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NCBI chr22:2,931,523...3,082,475
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Porencephaly |
ClinVar |
PMID:25741868 |
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NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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G |
COL4A2 |
collagen type IV alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.2399G>A,p.G800E(human) |
CTD RGD |
PMID:26708157 |
RGD:13450938 |
NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
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G |
WDFY3 |
WD repeat and FYVE domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27008544 PMID:28492532 PMID:31327001 |
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NCBI chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
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G |
ANGPT2 |
angiopoietin 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
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G |
ASPM |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30842647 PMID:31980526 More...
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NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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G |
CENPJ |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:18414213 PMID:24033266 |
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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G |
CIT |
citron rho-interacting serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:27453579 PMID:27503289 |
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NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
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G |
KNL1 |
kinetochore scaffold 1 |
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ISO |
DNA:mutation:cds: c.6125 G>A,p. M2041I(human) |
RGD |
PMID:22983954 |
RGD:9685043 |
NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
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G |
MCPH1 |
microcephalin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
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G |
WDR62 |
WD repeat domain 62 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:28492532 PMID:28756000 PMID:31130284 More...
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NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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G |
ZNF335 |
zinc finger protein 335 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr20:42,287,518...42,312,169
Ensembl chr20:43,374,591...43,397,724
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G |
ANGPT2 |
angiopoietin 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 |
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NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
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G |
ASPM |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:18414213 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 PMID:23611254 PMID:25741868 PMID:26548919 PMID:26691732 PMID:26846091 PMID:28492532 PMID:29243349 PMID:29644084 PMID:31853109 PMID:32677750 PMID:33255631 PMID:34402213 More...
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NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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G |
CENPJ |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868 |
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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G |
MCPH1 |
microcephalin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
OMIM ClinVar |
PMID:7693575 PMID:11857108 PMID:12046007 PMID:15199523 PMID:16199547 PMID:16311745 PMID:16783362 PMID:18414213 PMID:20101680 PMID:20301772 PMID:20949544 PMID:20978018 PMID:22139841 PMID:22154951 PMID:22908299 PMID:23281133 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:32714618 PMID:33094427 PMID:34402213 More...
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NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
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G |
RNF17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
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G |
ZNF335 |
zinc finger protein 335 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 |
OMIM ClinVar |
PMID:19131338 PMID:23178126 PMID:25741868 PMID:27540107 PMID:28327206 PMID:28492532 PMID:29652087 PMID:33216650 More...
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NCBI chr20:42,287,518...42,312,169
Ensembl chr20:43,374,591...43,397,724
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G |
PHC1 |
polyhomeotic homolog 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive |
OMIM ClinVar |
PMID:23418308 PMID:25558065 PMID:25741868 |
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NCBI chr12:8,999,018...9,025,900
Ensembl chr12:9,231,394...9,257,806
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G |
CDK6 |
cyclin dependent kinase 6 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive |
OMIM ClinVar |
PMID:23918663 |
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NCBI chr 7:84,603,419...84,835,082
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G |
CENPE |
centromere protein E |
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ISO |
ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive |
OMIM ClinVar |
PMID:24748105 PMID:25741868 |
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NCBI chr 4:95,562,005...95,654,397
Ensembl chr 4:106,185,283...106,277,229
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SASS6 |
SAS-6 centriolar assembly protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive |
OMIM ClinVar |
PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237 |
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NCBI chr 1:102,741,808...102,790,850
Ensembl chr 1:101,459,348...101,506,072
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MFSD2A |
MFSD2 lysolipid transporter A, lysophospholipid |
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ISO |
ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:26005865 PMID:26005868 PMID:28492532 PMID:30043326 PMID:32572202 More...
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NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
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ANKLE2 |
ankyrin repeat and LEM domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive |
OMIM ClinVar |
PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 PMID:31735666 PMID:35871307 More...
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NCBI chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140
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CIT |
citron rho-interacting serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 PMID:28492532 More...
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NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
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COPB2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 |
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NCBI chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
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WDR62 |
WD repeat domain 62 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition |
OMIM ClinVar |
PMID:3440221 PMID:9536098 PMID:10573015 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20729831 PMID:20890278 PMID:20890279 PMID:21834044 PMID:21961505 PMID:22775483 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:26077850 PMID:26467025 PMID:28004384 PMID:28377545 PMID:28492532 PMID:28756000 PMID:31130284 PMID:31589614 PMID:33502066 PMID:33589534 PMID:33604570 PMID:34402213 More...
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NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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KIF14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive |
OMIM ClinVar |
PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:28892560 PMID:29343805 PMID:30388224 More...
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NCBI chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323
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GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
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G |
NCAPD2 |
non-SMC condensin I complex subunit D2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206
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NCAPD3 |
non-SMC condensin II complex subunit D3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:27737959 |
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NCBI chr11:129,005,365...129,078,581
Ensembl chr11:132,865,349...132,935,590
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G |
NCAPH |
non-SMC condensin I complex subunit H |
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ISO |
ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:27737959 |
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NCBI chr2A:102,939,357...102,980,091
Ensembl chr2A:97,258,412...97,299,906
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G |
NUP37 |
nucleoporin 37 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:30179222 |
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NCBI chr12:99,661,779...99,707,618
Ensembl chr12:103,059,232...103,105,066
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G |
TRAPPC14 |
trafficking protein particle complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:30715179 |
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NCBI chr 7:92,189,179...92,193,483
Ensembl chr 7:105,622,497...105,625,978
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G |
LMNB1 |
lamin B1 |
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ISO |
ClinVar Annotator: match by term: LMNB1-related condition | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:32910914 PMID:33033404 |
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NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
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G |
LMNB2 |
lamin B2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant |
ClinVar OMIM |
PMID:25741868 PMID:33033404 |
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NCBI chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568
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G |
LOC100986453 |
ribosomal RNA-processing protein 7 homolog A |
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ISO |
ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive |
OMIM ClinVar |
PMID:33199730 |
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NCBI chr22:23,403,954...23,415,442
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G |
PDCD6IP |
programmed cell death 6 interacting protein |
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ISO |
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OMIM |
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NCBI chr 3:33,719,603...33,793,301
Ensembl chr 3:34,016,474...34,093,631
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G |
CDK5RAP2 |
CDK5 regulatory subunit associated protein 2 |
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ISO |
ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive |
OMIM ClinVar |
PMID:10677332 PMID:15793586 PMID:17764569 PMID:18414213 PMID:20301772 PMID:20460369 PMID:22887808 PMID:23726037 PMID:23995685 PMID:25326637 PMID:25741868 PMID:26436113 PMID:27391121 PMID:27761245 PMID:28004182 PMID:28492532 PMID:30392784 PMID:31316545 More...
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NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
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G |
BUB1 |
BUB1 mitotic checkpoint serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive |
OMIM ClinVar |
PMID:35044816 |
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NCBI chr2A:91,393,317...91,433,579
Ensembl chr2A:111,793,236...111,858,392
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KNL1 |
kinetochore scaffold 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive |
OMIM ClinVar |
PMID:10521316 PMID:18414213 PMID:22983954 PMID:25326637 PMID:25741868 PMID:26626498 PMID:27149178 PMID:28454995 PMID:28492532 More...
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NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
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ASPM |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive |
OMIM ClinVar |
PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 PMID:16141009 PMID:16199547 PMID:16673149 PMID:17576681 PMID:17849285 PMID:18414213 PMID:18452193 PMID:19028728 PMID:19332161 PMID:19353628 PMID:19770472 PMID:20301772 PMID:20679666 PMID:20978018 PMID:22823409 PMID:22989186 PMID:23611254 PMID:24033266 PMID:25480035 PMID:25525159 PMID:25741868 PMID:25786579 PMID:26467025 PMID:26548919 PMID:26663670 PMID:26691732 PMID:26846091 PMID:27250695 PMID:28004384 PMID:28492532 PMID:28554332 PMID:29243349 PMID:29388391 PMID:29522511 PMID:29644084 PMID:29706646 PMID:30167849 PMID:30842647 PMID:31680123 PMID:31696992 PMID:31853109 PMID:31934343 PMID:31980526 PMID:32404165 PMID:32677750 PMID:33255631 PMID:34402213 More...
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NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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MFSD8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
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G |
SLC26A4 |
solute carrier family 26 member 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive |
ClinVar |
PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637
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G |
CENPJ |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive |
OMIM ClinVar |
PMID:12843329 PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:22775483 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 PMID:32549991 PMID:34958143 PMID:35229910 More...
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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G |
RNF17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive |
ClinVar |
PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
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STIL |
STIL centriolar assembly protein |
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ISO |
ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive |
OMIM ClinVar |
PMID:18414213 PMID:19215732 PMID:20301772 PMID:22989186 PMID:23772360 PMID:24986681 PMID:25218063 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26548919 PMID:26633542 PMID:28492532 PMID:33132204 More...
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NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
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G |
CEP135 |
centrosomal protein 135 |
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ISO |
ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive |
OMIM ClinVar |
PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 PMID:30214071 PMID:31696992 PMID:32643282 More...
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NCBI chr 4:67,895,930...67,980,231
Ensembl chr 4:74,463,689...74,547,735
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G |
CEP152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 PMID:25741868 PMID:25996639 PMID:28454995 PMID:28492532 PMID:34402213 More...
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NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
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G |
DHCR7 |
7-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 PMID:11175299 PMID:15521979 PMID:15670717 PMID:15805162 PMID:16497572 PMID:17965227 PMID:19390132 PMID:20301322 PMID:20556518 PMID:23293579 PMID:24033266 PMID:25741868 PMID:27415407 PMID:28166604 PMID:28250423 PMID:28492532 PMID:33223529 More...
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NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
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DNAH2 |
dynein axonemal heavy chain 2 |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:7,746,731...7,867,426
Ensembl chr17:7,739,573...7,853,752
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FOXG1 |
forkhead box G1 |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:25741868 |
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G |
IGF2BP3 |
insulin like growth factor 2 mRNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473
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G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:23631430 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:26669661 PMID:27831900 PMID:28492532 PMID:30755392 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
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NCBI chr11:2,469,750...2,874,467
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RAB11A |
RAB11A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
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G |
RTTN |
rotatin |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:25741868 PMID:26608784 |
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NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
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G |
SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
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NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
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G |
TSR1 |
TSR1 ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Primary microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr17:2,314,567...2,328,518
Ensembl chr17:2,199,023...2,213,193
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ALS2CL |
ALS2 C-terminal like |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,568,200...46,591,331
Ensembl chr 3:47,671,286...47,695,772
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G |
ARIH2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924
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G |
CAMP |
cathelicidin antimicrobial peptide |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,137,785...48,139,893
Ensembl chr 3:49,222,110...49,224,250
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G |
CCDC12 |
coiled-coil domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,822,128...46,882,217
Ensembl chr 3:47,923,673...47,978,660
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G |
CCDC51 |
coiled-coil domain containing 51 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,354,203...48,362,173
Ensembl chr 3:49,436,988...49,445,819
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G |
CCR1 |
C-C motif chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
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G |
CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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G |
CCR3 |
C-C motif chemokine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
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G |
CCR5 |
C-C motif chemokine receptor 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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G |
CCR9 |
C-C motif chemokine receptor 9 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:45,719,655...45,810,964
Ensembl chr 3:46,900,845...46,917,443
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G |
CCRL2 |
C-C motif chemokine receptor like 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,296,556...46,311,246
Ensembl chr 3:47,414,124...47,415,562
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G |
CDC25A |
cell division cycle 25A |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
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G |
CELSR3 |
cadherin EGF LAG seven-pass G-type receptor 3 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,557,976...48,586,051
Ensembl chr 3:49,639,942...49,667,335
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
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G |
CRIPTO |
cripto, EGF-CFC family member |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:46,473,282...46,478,454
Ensembl chr 3:47,577,949...47,583,126
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G |
CSPG5 |
chondroitin sulfate proteoglycan 5 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,464,341...47,482,910
Ensembl chr 3:48,564,199...48,580,048
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G |
CXCR6 |
C-X-C motif chemokine receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:45,848,722...45,856,145
Ensembl chr 3:46,960,610...46,961,638
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G |
DALRD3 |
DALR anticodon binding domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522
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G |
DHX30 |
DExH-box helicase 30 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:47,715,275...47,762,872
Ensembl chr 3:48,819,125...48,857,964
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G |
ELP6 |
elongator acetyltransferase complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:47,392,777...47,415,830
Ensembl chr 3:48,496,874...48,515,090
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G |
FBXW12 |
F-box and WD repeat domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,290,904...48,318,318
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G |
FYCO1 |
FYVE and coiled-coil domain autophagy adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:45,825,670...45,903,595
Ensembl chr 3:46,932,148...47,009,676
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G |
IMPDH2 |
inosine monophosphate dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,948,965...48,954,276
Ensembl chr 3:50,030,303...50,035,676
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G |
IP6K2 |
inositol hexakisphosphate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798
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G |
KIF9 |
kinesin family member 9 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
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G |
KLHL18 |
kelch like family member 18 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
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G |
LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
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G |
LIMD1 |
LIM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:45,500,413...45,587,850
Ensembl chr 3:46,610,315...46,695,406
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G |
LOC100977575 |
cytochrome b-c1 complex subunit 1, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,520,870...48,531,947
Ensembl chr 3:49,602,770...49,613,717
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G |
LOC103786080 |
ARIH2 opposite strand lncRNA |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,843,126...48,845,424
Ensembl chr 3:49,925,886...49,926,758
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G |
LRRC2 |
leucine rich repeat containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,413,776...46,463,131
Ensembl chr 3:47,518,600...47,567,020
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G |
LTF |
lactotransferrin |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
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G |
LZTFL1 |
leucine zipper transcription factor like 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:45,733,361...45,823,810
Ensembl chr 3:46,840,037...46,929,864
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G |
MAP4 |
microtubule associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:47,763,379...47,995,457
Ensembl chr 3:48,858,544...49,020,950
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G |
MYL3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084
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G |
NBEAL2 |
neurobeachin like 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,879,867...46,909,901
Ensembl chr 3:47,987,142...48,010,766
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G |
NCKIPSD |
NCK interacting protein with SH3 domain |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,586,112...48,606,811
Ensembl chr 3:49,676,282...49,688,548
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G |
NDUFAF3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260
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G |
NME6 |
NME/NM23 nucleoside diphosphate kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
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G |
P4HTM |
prolyl 4-hydroxylase, transmembrane |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,914,547...48,931,723
Ensembl chr 3:49,993,219...50,013,272
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G |
PFKFB4 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,439,542...48,479,501
Ensembl chr 3:49,521,550...49,560,711
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G |
PLXNB1 |
plexin B1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,325,892...48,352,128
Ensembl chr 3:49,408,666...49,434,913
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G |
PRKAR2A |
protein kinase cAMP-dependent type II regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,665,421...48,774,111
Ensembl chr 3:49,747,611...49,854,382
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G |
PRSS50 |
serine protease 50 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,610,119...46,616,435
Ensembl chr 3:47,713,699...47,719,315
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G |
PTH1R |
parathyroid hormone 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431
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G |
PTPN23 |
protein tyrosine phosphatase non-receptor type 23 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33256324 More...
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NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
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G |
QRICH1 |
glutamine rich 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,954,345...49,018,745
Ensembl chr 3:50,035,676...50,097,596
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G |
RTP3 |
receptor transporter protein 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,397,231...46,400,221
Ensembl chr 3:47,502,087...47,505,062
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G |
SACM1L |
SAC1 like phosphatidylinositide phosphatase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:45,596,775...45,652,482
Ensembl chr 3:46,704,565...46,760,104
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G |
SCAP |
SREBF chaperone |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:47,314,535...47,379,455
Ensembl chr 3:48,414,012...48,479,845
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G |
SETD2 |
SET domain containing 2, histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
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G |
SHISA5 |
shisa family member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,389,924...48,426,064
Ensembl chr 3:49,471,604...49,508,840
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G |
SLC25A20 |
solute carrier family 25 member 20 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
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G |
SLC26A6 |
solute carrier family 26 member 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,547,277...48,557,099
Ensembl chr 3:49,629,237...49,639,039
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G |
SLC6A20 |
solute carrier family 6 member 20 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:45,663,830...45,703,576
Ensembl chr 3:46,770,067...46,811,158
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G |
SMARCC1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248
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G |
SPINK8 |
serine peptidase inhibitor Kazal type 8 (putative) |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,219,663...48,249,064
Ensembl chr 3:49,304,505...49,327,704
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G |
TMA7 |
translation machinery associated 7 homolog |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,362,222...48,366,235
Ensembl chr 3:49,445,111...49,448,009
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G |
TMEM89 |
transmembrane protein 89 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,542,058...48,543,674
Ensembl chr 3:49,624,215...49,625,444
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G |
TMIE |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:46,590,527...46,608,981
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G |
TREX1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
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G |
UCN2 |
urocortin 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,484,628...48,485,179
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G |
WDR6 |
WD repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,931,669...48,940,591
Ensembl chr 3:50,013,708...50,021,367
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G |
XCR1 |
X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:45,922,985...45,934,332
Ensembl chr 3:47,033,084...47,034,085
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G |
ZNF589 |
zinc finger protein 589 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:48,155,002...48,188,343
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G |
PSAT1 |
phosphoserine aminotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: PSAT deficiency |
OMIM ClinVar |
PMID:9536098 PMID:17436247 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29269105 PMID:32077105 PMID:34077496 PMID:34089226 More...
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NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
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G |
OCLN |
occludin |
|
ISO |
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 |
OMIM ClinVar |
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 |
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NCBI chr 5:44,447,230...44,509,637
Ensembl chr 5:46,023,437...46,069,342
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G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
|
ISO |
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia |
OMIM ClinVar |
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 PMID:20825432 PMID:22582013 PMID:24033266 PMID:25026495 PMID:25741868 PMID:27862258 PMID:28492532 PMID:32093234 PMID:32299476 PMID:32337609 More...
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NCBI chr 7:311,468...394,623
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G |
FARSB |
phenylalanyl-tRNA synthetase subunit beta |
|
ISO |
ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29979980 |
|
NCBI chr2B:109,813,000...109,897,159
Ensembl chr2B:228,394,238...228,478,345
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G |
COL4A1 |
collagen type IV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: SCHIZENCEPHALY |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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G |
EMX2 |
empty spiracles homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Schizencephaly |
OMIM ClinVar |
PMID:8528262 PMID:9359037 |
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NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972
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G |
SHH |
sonic hedgehog signaling molecule |
|
ISO |
ClinVar Annotator: match by term: Schizencephaly |
OMIM ClinVar |
PMID:9302262 PMID:10556296 PMID:12709790 PMID:15292211 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:32939873 More...
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NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
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G |
SIX3 |
SIX homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Schizencephaly |
OMIM ClinVar |
PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 More...
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NCBI chr2A:45,038,634...45,072,867
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G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly |
ClinVar |
PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31394527 PMID:31775759 PMID:32165824 PMID:33027564 PMID:168335863 More...
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NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly |
ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:26372703 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 More...
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NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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LRRC56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly |
ClinVar |
PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31394527 PMID:31775759 PMID:32165824 PMID:33027564 PMID:168335863 More...
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NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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NRAS |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:12460918 PMID:12727991 PMID:14508525 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18948947 PMID:19075190 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 More...
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NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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ATR |
ATR serine/threonine kinase |
susceptibility |
ISO |
ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1 DNA:point mutation:2101A>G (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 PMID:16199547 PMID:17010193 PMID:17576681 PMID:18414213 PMID:21228398 PMID:23111928 PMID:23144622 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26689913 PMID:26845104 PMID:28492532 PMID:29439820 PMID:30159786 PMID:30199583 PMID:30262796 PMID:30995915 PMID:32522261 PMID:32606146 PMID:33057211 PMID:34008015 More...
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RGD:1599404 |
NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
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CENPJ |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Seckel syndrome 1 |
ClinVar |
PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 |
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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CEP152 |
centrosomal protein 152 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21131973 |
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NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
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PCNT |
pericentrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18157127 |
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NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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PCNT |
pericentrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18174396 |
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NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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RBBP8 |
RB binding protein 8, endonuclease |
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ISO |
ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 |
OMIM ClinVar |
PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 PMID:27848944 PMID:28492532 More...
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NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
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CENPJ |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Seckel syndrome 4 |
OMIM ClinVar |
PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 More...
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NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
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RNF17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Seckel syndrome 4 |
ClinVar |
PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
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DIAPH1 |
diaphanous related formin 1 |
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ISO |
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome |
OMIM ClinVar |
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34279089 PMID:35307828 PMID:36118902 More...
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NCBI chr 5:136,876,396...136,980,097
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EXT2 |
exostosin glycosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome |
OMIM ClinVar |
PMID:9326317 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11432960 PMID:16199547 PMID:16283885 PMID:17041877 PMID:19344451 PMID:19810120 PMID:23439489 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30075207 PMID:30288735 PMID:30997052 PMID:34092239 More...
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NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447
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NHEJ1 |
non-homologous end joining factor 1 |
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ISO |
ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 PMID:16571728 PMID:17317666 PMID:17576681 PMID:20597108 PMID:21721379 PMID:25661488 PMID:25741868 PMID:26122175 PMID:26193622 PMID:28492532 PMID:28741180 PMID:31130284 PMID:31589614 PMID:31589898 More...
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NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
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CENPT |
centromere protein T |
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ISO |
ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies |
OMIM ClinVar |
PMID:25741868 PMID:29228025 |
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NCBI chr16:48,169,892...48,177,559
Ensembl chr16:67,557,661...67,564,735
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CRIPT |
CXXC repeat containing interactor of PDZ3 domain |
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ISO |
ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies |
OMIM ClinVar |
PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064 |
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NCBI chr2A:46,732,683...46,740,589
Ensembl chr2A:47,663,304...47,671,463
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PIGF |
phosphatidylinositol glycan anchor biosynthesis class F |
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ISO |
ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies |
ClinVar |
PMID:27250922 |
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NCBI chr2A:46,696,543...46,732,625
Ensembl chr2A:47,627,376...47,663,272
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ZNF407 |
zinc finger protein 407 |
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ISO |
ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition |
OMIM ClinVar |
PMID:24907849 PMID:25741868 PMID:32737394 |
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NCBI chr18:67,985,750...68,451,774
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XRCC2 |
X-ray repair cross complementing 2 |
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ISO |
ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction |
ClinVar |
PMID:11118202 PMID:22232082 PMID:26046366 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 PMID:30306255 PMID:32832836 More...
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NCBI chr 7:144,229,031...144,256,854
Ensembl chr 7:156,378,685...156,406,516
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XRCC4 |
X-ray repair cross complementing 4 |
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ISO |
ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition |
OMIM ClinVar |
PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:25742519 PMID:25839420 PMID:25872942 PMID:26255102 PMID:26822949 PMID:28492532 More...
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NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490
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CSGALNACT1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age |
OMIM ClinVar |
PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 |
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NCBI chr 8:18,626,998...18,980,416
Ensembl chr 8:15,576,416...15,904,123
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CHD3 |
chromodomain helicase DNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
OMIM ClinVar |
PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 PMID:28492532 PMID:29463886 PMID:29758562 PMID:30192042 PMID:30397230 PMID:32483341 PMID:33358638 PMID:35346573 PMID:36114283 More...
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NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115
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NAA38 |
N-alpha-acetyltransferase 38, NatC auxiliary subunit |
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ISO |
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932
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SLC1A4 |
solute carrier family 1 member 4 |
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ISO |
ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
OMIM ClinVar |
PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 PMID:27193218 PMID:27848944 PMID:28327206 PMID:28492532 PMID:29989513 PMID:30125339 PMID:32404165 PMID:34174466 More...
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NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
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NANS |
N-acetylneuraminate synthase |
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ISO |
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type |
OMIM ClinVar |
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 |
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NCBI chr 9:69,146,016...69,172,355
Ensembl chr 9:97,267,088...97,293,385
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TRIM14 |
tripartite motif containing 14 |
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ISO |
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type |
ClinVar |
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 |
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NCBI chr 9:69,176,088...69,209,574
Ensembl chr 9:97,294,407...97,330,059
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CENPF |
centromere protein F |
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ISO |
ClinVar Annotator: match by term: Stromme syndrome |
OMIM ClinVar |
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 PMID:28407396 PMID:28492532 More...
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NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
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DCX |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Subcortical band heterotopia |
ClinVar |
PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 |
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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EML1 |
EMAP like 1 |
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ISO |
ClinVar Annotator: match by term: Band heterotopia of brain |
OMIM ClinVar |
PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 |
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NCBI chr14:80,362,837...80,566,996
Ensembl chr14:99,793,812...99,885,359
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PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Subcortical band heterotopia |
ClinVar |
PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 PMID:28492532 PMID:29671837 More...
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NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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DCX |
doublecortin |
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ISO |
DNA:deletions DNA:nonsense mutation: :p.R186C (971C>T) (human) |
RGD |
PMID:9618162 PMID:19050731 PMID:19098909 |
RGD:12904718 RGD:12904725 RGD:12904762 |
NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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HMGB3 |
high mobility group box 3 |
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ISO |
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OMIM |
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NCBI chr X:140,632,163...140,639,774
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ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:33,026,525...33,052,252
Ensembl chr X:40,730,677...40,756,209
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BCOR |
BCL6 corepressor |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986
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CASK |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 PMID:19377476 PMID:20029458 PMID:21609947 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22495306 PMID:22709267 PMID:23165780 PMID:23406872 PMID:23871722 PMID:23901204 PMID:24505460 PMID:24781210 PMID:24893065 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:25886057 PMID:26467025 PMID:27173948 PMID:27652284 PMID:27799067 PMID:28132688 PMID:28407358 PMID:28492532 PMID:28783747 PMID:28944139 PMID:29691940 PMID:29878067 PMID:30549415 PMID:31474318 PMID:31785789 PMID:33090494 PMID:33504798 More...
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NCBI chr X:33,967,329...34,374,385
Ensembl chr X:41,659,295...42,066,570
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CXHXorf38 |
chromosome X CXorf38 homolog |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:33,074,757...33,095,049
Ensembl chr X:40,777,829...40,798,628
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DDX3X |
DEAD-box helicase 3 X-linked |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837
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GPR34 |
G protein-coupled receptor 34 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23901204 PMID:28492532 More...
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NCBI chr X:34,136,375...34,145,754
Ensembl chr X:41,836,693...41,837,838
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GPR82 |
G protein-coupled receptor 82 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23901204 PMID:28492532 More...
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NCBI chr X:34,172,153...34,176,193
Ensembl chr X:41,868,163...41,869,172
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LDLR |
low density lipoprotein receptor |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type |
ClinVar |
PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 PMID:11641914 PMID:11754108 PMID:15199436 PMID:15241806 PMID:15864114 PMID:17196209 PMID:17335829 PMID:17539906 PMID:17765246 PMID:18206115 PMID:18263977 PMID:19026292 PMID:19118540 PMID:19446849 PMID:20145306 PMID:20506408 PMID:20663204 PMID:21310417 PMID:21865347 PMID:21925044 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:24507775 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25637381 PMID:25647241 PMID:25741868 PMID:25936317 PMID:26020417 PMID:26036859 PMID:26238499 PMID:26467025 PMID:26723464 PMID:27765764 PMID:27824480 PMID:27998977 PMID:28492532 PMID:28965616 PMID:29261184 PMID:30710474 PMID:31345425 PMID:31447099 PMID:31617323 PMID:31947532 PMID:32041611 PMID:32660911 PMID:32719484 PMID:32770674 PMID:32977124 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33740630 PMID:33975813 PMID:34037665 PMID:34167030 PMID:35535697 PMID:35741760 More...
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NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
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MED14 |
mediator complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:33,097,206...33,183,322
Ensembl chr X:40,798,363...40,886,270
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MPC1L |
mitochondrial pyruvate carrier 1 like |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:33,071,311...33,071,977
Ensembl chr X:40,774,479...40,774,889
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G |
NYX |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:33,899,010...33,928,363
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G |
USP9X |
ubiquitin specific peptidase 9 X-linked |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked |
ClinVar |
PMID:23901204 PMID:28492532 |
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NCBI chr X:33,535,543...33,683,220
Ensembl chr X:41,232,041...41,379,910
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G |
AFF2 |
ALF transcription elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 |
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NCBI chr X:137,524,106...138,015,114
Ensembl chr X:147,951,022...148,436,935
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G |
CAMTA1 |
calmodulin binding transcription activator 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 |
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NCBI chr 1:5,549,742...6,532,568
Ensembl chr 1:6,824,687...7,781,265
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G |
HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type |
OMIM ClinVar |
PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 PMID:17576681 PMID:18252223 PMID:19377476 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25741869 PMID:25985138 PMID:27130160 PMID:27884935 PMID:28492532 PMID:29118367 PMID:29180823 PMID:30797980 PMID:35887114 More...
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NCBI chr X:45,746,228...45,897,250
Ensembl chr X:53,855,404...54,005,366
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G |
SKI |
SKI proto-oncogene |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080
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G |
RNF125 |
ring finger protein 125 |
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ISO |
ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome |
OMIM ClinVar |
PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 |
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NCBI chr18:25,227,353...25,297,186
Ensembl chr18:28,824,183...28,873,068
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G |
FIBP |
FGF1 intracellular binding protein |
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ISO |
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome |
OMIM ClinVar |
PMID:25741868 PMID:26660953 PMID:27183861 |
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NCBI chr11:61,244,175...61,248,805
Ensembl chr11:64,573,537...64,578,328
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G |
ZNF407 |
zinc finger protein 407 |
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ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation |
ClinVar |
PMID:25741868 |
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NCBI chr18:67,985,750...68,451,774
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
protein:decreased expression, altered localization:cerebral cortex: |
RGD |
PMID:22752548 |
RGD:9068443 |
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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G |
EIF4EBP1 |
eukaryotic translation initiation factor 4E binding protein 1 |
treatment |
ISO |
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RGD |
PMID:12384518 |
RGD:1549429 |
NCBI chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936
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G |
FLNA |
filamin A |
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ISO |
protein:increased expression:prefrontal cortex (human) |
RGD |
PMID:25277454 |
RGD:11565117 |
NCBI chr X:143,799,088...143,825,282
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G |
IFNG |
interferon gamma |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16845661 |
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NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:cerebral cortex |
RGD |
PMID:22459050 |
RGD:8547829 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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G |
PKD1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis syndrome |
ClinVar |
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NCBI chr16:604,366...605,560
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G |
TSC1 |
TSC complex subunit 1 |
susceptibility |
ISO |
DNA:nonsense mutations, deletion: :multiple ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome |
RGD ClinVar |
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10205261 PMID:10227394 PMID:10330349 PMID:10340649 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11271387 PMID:11329144 PMID:11774213 PMID:12015165 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14633685 PMID:14642745 PMID:14756965 PMID:15121797 PMID:15236319 PMID:15595939 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16554133 PMID:16981987 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18397877 PMID:18414213 PMID:18772611 PMID:18830229 PMID:18854862 PMID:19139070 PMID:19175396 PMID:19254590 PMID:19419980 PMID:19747374 PMID:19789314 PMID:19918125 PMID:20165957 PMID:20185476 PMID:20399389 PMID:20498439 PMID:20547222 PMID:20633017 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22791573 PMID:22867869 PMID:22903760 PMID:22923433 PMID:22995991 PMID:23254740 PMID:23341583 PMID:23389244 PMID:23401075 PMID:23514105 PMID:23728315 PMID:23857276 PMID:24033266 PMID:24633152 PMID:24728327 PMID:24789117 PMID:25077650 PMID:25117416 PMID:25326635 PMID:25498131 PMID:25525159 PMID:25684150 PMID:25722345 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26332594 PMID:26467025 PMID:26493680 PMID:26540169 PMID:26580448 PMID:27061015 PMID:27153395 PMID:27406250 PMID:27425891 PMID:27470532 PMID:27494029 PMID:27600092 PMID:27859028 PMID:28065512 PMID:28087349 PMID:28215400 PMID:28291513 PMID:28492532 PMID:28614114 PMID:28968464 PMID:29101226 PMID:29127155 PMID:29196670 PMID:29221145 PMID:29261847 PMID:29286531 PMID:29432982 PMID:29458892 PMID:29500070 PMID:29655203 PMID:29706646 PMID:29740858 PMID:29932062 PMID:29960980 PMID:30076350 PMID:30548481 PMID:30581017 PMID:30794603 PMID:31019026 PMID:31054281 PMID:31377847 PMID:31525612 PMID:31564432 PMID:31664448 PMID:31855466 PMID:31927531 PMID:32211034 PMID:32238909 PMID:32313033 PMID:32461669 PMID:32555378 PMID:32917966 PMID:34573383 PMID:34799483 PMID:35710456 PMID:37149759 More...
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RGD:1624196 |
NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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G |
TSC2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome |
ClinVar |
PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 PMID:4461062 PMID:5279523 PMID:7581393 PMID:7823706 PMID:8634701 PMID:8824881 PMID:8825048 PMID:9076719 PMID:9242607 PMID:9285776 PMID:9302281 PMID:9328481 PMID:9361032 PMID:9412784 PMID:9452050 PMID:9463313 PMID:9536098 PMID:9829910 PMID:9881533 PMID:10069705 PMID:10090883 PMID:10205261 PMID:10206124 PMID:10215407 PMID:10227394 PMID:10330349 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10577937 PMID:10607950 PMID:10633137 PMID:10732801 PMID:10735580 PMID:10823953 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11290735 PMID:11403047 PMID:11437991 PMID:11468687 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11810271 PMID:11829138 PMID:12015165 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12511557 PMID:12752578 PMID:12906785 PMID:12913212 PMID:14508401 PMID:14641237 PMID:14718525 PMID:14756965 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15121792 PMID:15121797 PMID:15236319 PMID:15483652 PMID:15595939 PMID:15712319 PMID:15798777 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16042315 PMID:16114042 PMID:16129702 PMID:16199547 PMID:16237225 PMID:16417848 PMID:16464865 PMID:16554133 PMID:16822245 PMID:16877242 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:17681840 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18410267 PMID:18411301 PMID:18414213 PMID:18550814 PMID:18695678 PMID:18772611 PMID:18792920 PMID:18830229 PMID:18854862 PMID:19254590 PMID:19258292 PMID:19259131 PMID:19369101 PMID:19419980 PMID:19747374 PMID:19823873 PMID:20108343 PMID:20165957 PMID:20301399 PMID:20399389 PMID:20498439 PMID:20633017 PMID:21309039 PMID:21332470 PMID:21407264 PMID:21418539 PMID:21510812 PMID:21520333 PMID:21567926 PMID:21624971 PMID:21811971 PMID:21846442 PMID:21910228 PMID:22055460 PMID:22161988 PMID:22189265 PMID:22343534 PMID:22490766 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22707510 PMID:22805177 PMID:22867869 PMID:22903760 PMID:22974335 PMID:22995991 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:24668795 PMID:24728327 PMID:24789117 PMID:25039834 PMID:25058500 PMID:25088526 PMID:25180276 PMID:25203624 PMID:25231023 PMID:25281918 PMID:25338684 PMID:25401301 PMID:25432535 PMID:25498131 PMID:25525159 PMID:25593300 PMID:25599672 PMID:25637381 PMID:25724664 PMID:25741868 PMID:25782670 PMID:25862857 PMID:25892863 PMID:25911330 PMID:25927202 PMID:26155992 PMID:26332594 PMID:26467025 PMID:26489027 PMID:26540169 PMID:26563443 PMID:26580448 PMID:26633542 PMID:26637798 PMID:26703369 PMID:26994145 PMID:27060308 PMID:27078846 PMID:27153395 PMID:27174333 PMID:27176796 PMID:27194594 PMID:27406250 PMID:27493206 PMID:27494029 PMID:27600092 PMID:27601542 PMID:27621404 PMID:27757534 PMID:27774772 PMID:27854218 PMID:27859028 PMID:27884173 PMID:27930734 PMID:28065512 PMID:28074849 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28202063 PMID:28211972 PMID:28250423 PMID:28397210 PMID:28409891 PMID:28492532 PMID:28505269 PMID:28600779 PMID:28623545 PMID:28643795 PMID:28771801 PMID:28786016 PMID:28968464 PMID:28991257 PMID:29101226 PMID:29167182 PMID:29196670 PMID:29221145 PMID:29271092 PMID:29286531 PMID:29308833 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29642139 PMID:29655203 PMID:29659200 PMID:29740858 PMID:29801666 PMID:29925043 PMID:29932062 PMID:29933521 PMID:30024541 PMID:30036593 PMID:30093976 PMID:30185235 PMID:30255984 PMID:30548481 PMID:30564305 PMID:30583724 PMID:30712878 PMID:30787465 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31370276 PMID:31375768 PMID:31444548 PMID:31586081 PMID:31591157 PMID:31655562 PMID:31785789 PMID:31799751 PMID:31819260 PMID:31855466 PMID:31856217 PMID:31927531 PMID:32005694 PMID:32211034 PMID:32216820 PMID:32313033 PMID:32382396 PMID:32410215 PMID:32461669 PMID:32461694 PMID:32502382 PMID:32555378 PMID:32581362 PMID:32830346 PMID:32860008 PMID:32917028 PMID:32917966 PMID:33051600 PMID:33074564 PMID:33391346 PMID:33532864 PMID:34070849 PMID:34145886 PMID:34246755 PMID:34252879 PMID:34403804 PMID:34489640 PMID:34575676 PMID:34754157 PMID:34804623 PMID:34849272 PMID:35441217 PMID:35712104 PMID:35768438 PMID:35918040 PMID:36232477 PMID:37228977 More...
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NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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G |
ABCA2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776
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G |
ABO |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
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G |
ADAMTS13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
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G |
ADAMTSL2 |
ADAMTS like 2 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602
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G |
AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286
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G |
AJM1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,898,222...107,908,125
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G |
AK8 |
adenylate kinase 8 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313
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G |
BARHL1 |
BarH like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661
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G |
BRD3 |
bromodomain containing 3 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419
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G |
C8G |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152
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G |
CACFD1 |
calcium channel flower domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686
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G |
CAMSAP1 |
calmodulin regulated spectrin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911
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G |
CARD9 |
caspase recruitment domain family member 9 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
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G |
CCDC183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166
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G |
CEL |
carboxyl ester lipase |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010
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G |
CFAP77 |
cilia and flagella associated protein 77 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666
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G |
CLIC3 |
chloride intracellular channel 3 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361
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G |
COL5A1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
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G |
DBH |
dopamine beta-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
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G |
DDX31 |
DEAD-box helicase 31 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713
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G |
DIPK1B |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833
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G |
DNLZ |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,432,709...107,436,360
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G |
DPP7 |
dipeptidyl peptidase 7 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,170,361...108,189,498
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G |
EDF1 |
endothelial differentiation related factor 1 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133
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G |
EGFL7 |
EGF like domain multiple 7 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448
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G |
ENTPD2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031
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G |
ENTR1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414
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G |
FAM163B |
family with sequence similarity 163 member B |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841
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G |
FBXW5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945
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G |
FUT7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607
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G |
GBGT1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832
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G |
GFI1B |
growth factor independent 1B transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326
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G |
GLT6D1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268
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G |
GPSM1 |
G protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
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G |
GTF3C4 |
general transcription factor IIIC subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082
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G |
GTF3C5 |
general transcription factor IIIC subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518
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G |
INPP5E |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
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G |
KCNT1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482
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G |
LCN1 |
lipocalin 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869
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G |
LCN12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643
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G |
LCN15 |
lipocalin 15 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304
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G |
LCN8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178
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G |
LCN9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
|
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G |
LCNL1 |
lipocalin like 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864
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G |
LHX3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
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G |
LINC02907 |
long intergenic non-protein coding RNA 2907 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,481,811...106,482,817
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G |
LINC02908 |
long intergenic non-protein coding RNA 2908 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,093,280...108,097,369
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G |
LOC100976912 |
uncharacterized protein C9orf163 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,561,734...107,562,397
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G |
LOC100983451 |
surfeit locus protein 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904
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G |
LOC100994627 |
ficolin-2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992
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G |
LOC100994951 |
ficolin-1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111
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G |
MAMDC4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065
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G |
MAN1B1 |
mannosidase alpha class 1B member 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066
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G |
MED22 |
mediator complex subunit 22 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071
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G |
MRPS2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926
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G |
MYMK |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631
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G |
NACC2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176
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G |
NOTCH1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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G |
NPDC1 |
neural proliferation, differentiation and control 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257
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G |
OBP2B |
odorant binding protein 2B |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117
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G |
OLFM1 |
olfactomedin 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598
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G |
PAEP |
progestagen associated endometrial protein |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:106,669,550...106,681,918
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G |
PAXX |
PAXX non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805
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G |
PHPT1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,906,160...107,908,130
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G |
PIERCE1 |
piercer of microtubule wall 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837
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G |
PMPCA |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
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G |
PPP1R26 |
protein phosphatase 1 regulatory subunit 26 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:106,620,368...106,629,655
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G |
PTGDS |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680
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G |
QSOX2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774
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G |
RABL6 |
RAB, member RAS oncogene family like 6 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545
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G |
RALGDS |
ral guanine nucleotide dissociation stimulator |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,218,338...104,269,322
Ensembl chr 9:132,832,924...132,865,901
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G |
REXO4 |
REX4 homolog, 3'-5' exonuclease |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413
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G |
RPL7A |
ribosomal protein L7a |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340
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G |
RXRA |
retinoid X receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704
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G |
SAPCD2 |
suppressor APC domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:108,122,658...108,132,397
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G |
SARDH |
sarcosine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642
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G |
SEC16A |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655
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G |
SETX |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
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G |
SLC2A6 |
solute carrier family 2 member 6 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051
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G |
SNAPC4 |
small nuclear RNA activating complex polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653
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G |
SOHLH1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228
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G |
SPACA9 |
sperm acrosome associated 9 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686
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G |
STKLD1 |
serine/threonine kinase like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430
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G |
SURF2 |
surfeit 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054
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G |
SURF4 |
surfeit 4 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007
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G |
SURF6 |
surfeit 6 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302
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G |
TMEM141 |
transmembrane protein 141 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,849,421...107,851,438
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G |
TMEM250 |
transmembrane protein 250 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292
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G |
TRAF2 |
TNF receptor associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331
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G |
TSC1 |
TSC complex subunit 1 |
treatment |
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
OMIM ClinVar RGD |
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10205261 PMID:10227394 PMID:10330349 PMID:10340649 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 PMID:10570911 PMID:10607950 PMID:10874311 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11281455 PMID:11329144 PMID:11774213 PMID:12015165 PMID:12040899 PMID:12111193 PMID:12112044 PMID:12773163 PMID:12853839 PMID:14551205 PMID:14597398 PMID:14633685 PMID:14642745 PMID:14756965 PMID:15121797 PMID:15236319 PMID:15595939 PMID:15769473 PMID:15798777 PMID:16114042 PMID:16199547 PMID:16225402 PMID:16554133 PMID:16981987 PMID:17287951 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18397877 PMID:18414213 PMID:18772611 PMID:18801034 PMID:18830229 PMID:18854862 PMID:19139070 PMID:19175396 PMID:19254590 PMID:19419980 PMID:19747374 PMID:19763152 PMID:19789314 PMID:19918125 PMID:20082901 PMID:20165957 PMID:20185476 PMID:20307669 PMID:20399389 PMID:20547222 PMID:20633017 PMID:20877415 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22406018 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22791573 PMID:22867869 PMID:22903760 PMID:22923433 PMID:22974335 PMID:22995991 PMID:23254740 PMID:23341583 PMID:23389244 PMID:23401075 PMID:23514105 PMID:23647917 PMID:23728315 PMID:23857276 PMID:23999528 PMID:24033266 PMID:24271014 PMID:24633152 PMID:24714658 PMID:24728327 PMID:24789117 PMID:25077650 PMID:25117416 PMID:25326635 PMID:25401301 PMID:25498131 PMID:25525159 PMID:25640679 PMID:25684150 PMID:25722345 PMID:25741868 PMID:25782670 PMID:25889454 PMID:25900779 PMID:25927202 PMID:25944380 PMID:26019056 PMID:26226092 PMID:26231267 PMID:26332594 PMID:26467025 PMID:26493680 PMID:26540169 PMID:26563443 PMID:26580448 PMID:26615199 PMID:26786560 PMID:26934580 PMID:27061015 PMID:27153395 PMID:27174333 PMID:27229674 PMID:27406250 PMID:27425891 PMID:27470532 PMID:27494029 PMID:27600092 PMID:27859028 PMID:28065512 PMID:28087349 PMID:28215400 PMID:28250423 PMID:28288225 PMID:28492532 PMID:28614114 PMID:28623545 PMID:28762286 PMID:28968464 PMID:29045506 PMID:29052576 PMID:29101226 PMID:29127155 PMID:29196670 PMID:29221145 PMID:29261847 PMID:29286531 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29619247 PMID:29641532 PMID:29655203 PMID:29684080 PMID:29706646 PMID:29740858 PMID:29932062 PMID:29960980 PMID:30076350 PMID:30093976 PMID:30182498 PMID:30548481 PMID:30794603 PMID:30842500 PMID:31019026 PMID:31054281 PMID:31377847 PMID:31484976 PMID:31525612 PMID:31564432 PMID:31586081 PMID:31664448 PMID:31832524 PMID:31855466 PMID:31856217 PMID:31911633 PMID:31927531 PMID:32005694 PMID:32091409 PMID:32203225 PMID:32211034 PMID:32238909 PMID:32313033 PMID:32368696 PMID:32461669 PMID:32555378 PMID:32647919 PMID:32655475 PMID:32917966 PMID:33181865 PMID:33532864 PMID:34008892 PMID:34403804 PMID:34573383 PMID:34799483 PMID:35571021 PMID:35918040 PMID:36232477 More...
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RGD:11570507 |
NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:27859028 PMID:28492532 More...
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NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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G |
TTF1 |
transcription termination factor 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660
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G |
UAP1L1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793
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G |
UBAC1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046
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G |
VAV2 |
vav guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036
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G |
WDR5 |
WD repeat domain 5 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889
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G |
ANTKMT |
adenine nucleotide translocase lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:733,726...735,794
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G |
BAIAP3 |
BAI1 associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:1,390,160...1,403,978
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G |
BRICD5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
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NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995
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G |
C1QTNF8 |
C1q and TNF related 8 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:1,095,896...1,097,260
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G |
CACNA1H |
calcium voltage-gated channel subunit alpha1 H |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:1,195,364...1,222,917
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G |
CASKIN1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
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NCBI chr16:1,035,826...1,055,005
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G |
CCDC154 |
coiled-coil domain containing 154 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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NCBI chr16:54,158...64,522
Ensembl chr16:1,488,750...1,498,293
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G |
CCDC78 |
coiled-coil domain containing 78 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:735,974...739,572
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G |
CHTF18 |
chromosome transmission fidelity factor 18 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:803,340...813,170
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G |
CIAO3 |
cytosolic iron-sulfur assembly component 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:742,818...754,087
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G |
CLCN7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
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G |
CRAMP1 |
cramped chromatin regulator homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:233,377...299,494
Ensembl chr16:1,666,559...1,726,437
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G |
DNASE1L2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
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NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391
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G |
E4F1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
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NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695
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G |
ECI1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385
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G |
EME2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557
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|
G |
FBXL16 |
F-box and leucine rich repeat protein 16 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:708,401...711,626
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|
G |
GFER |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592
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G |
GNG13 |
G protein subunit gamma 13 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:813,363...813,721
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|
G |
GNPTG |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:1,407,385...1,418,523
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G |
HAGHL |
hydroxyacylglutathione hydrolase like |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:740,574...742,521
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|
G |
HS3ST6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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|
NCBI chr16:789,542...796,792
Ensembl chr16:1,994,864...2,001,615
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G |
IFNG |
interferon gamma |
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ISO |
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OMIM |
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|
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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G |
IFT140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
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|
G |
IGFALS |
insulin like growth factor binding protein acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442
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|
G |
JMJD8 |
jumonji domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:696,710...698,767
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|
G |
JPT2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:299,835...323,210
Ensembl chr16:1,733,188...1,754,175
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G |
LMF1 |
lipase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:869,449...973,456
|
|
G |
LOC100972985 |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
|
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NCBI chr16:835,420...874,178
|
|
G |
LOC100975679 |
acylpyruvase FAHD1, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:449,359...451,070
|
|
G |
LOC100977490 |
ras-related protein Rab-26 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
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NCBI chr16:1,006,847...1,012,263
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G |
LOC100978423 |
tryptase beta-2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
|
|
G |
LOC100990880 |
ubiquinol-cytochrome c reductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
NCBI chr16:39,543...41,134
Ensembl chr16:1,474,158...1,475,201
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|
G |
LOC100992459 |
hydroxyacylglutathione hydrolase, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:431,417...455,211
|
|
G |
MAPK8IP3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:327,995...392,691
Ensembl chr16:1,759,171...1,821,246
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G |
MCRIP2 |
MAPK regulated corepressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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G |
METRN |
meteorin, glial cell differentiation regulator |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:728,365...730,423
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|
G |
METTL26 |
methyltransferase like 26 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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G |
MLST8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828
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|
G |
MRPS34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558
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G |
MSLN |
mesothelin |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:777,146...783,449
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G |
MSRB1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:761,003...766,102
Ensembl chr16:2,028,487...2,032,636
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G |
NDUFB10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:742,402...744,850
Ensembl chr16:2,048,550...2,051,005
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G |
NHERF2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:664,310...676,640
Ensembl chr16:2,115,583...2,127,069
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G |
NME3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:392,694...394,106
Ensembl chr16:1,822,719...1,824,147
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G |
NOXO1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:720,087...725,567
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G |
NPW |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:682,746...684,569
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G |
NTHL1 |
nth like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29432982 PMID:29932062 PMID:32917966 More...
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NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656
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G |
NUBP2 |
NUBP iron-sulfur cluster assembly factor 2, cytosolic |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:405,264...411,626
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G |
PGP |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:1,070,291...1,073,123
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G |
PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:585,901...600,482
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G |
PKD1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 PMID:16114042 PMID:17287951 PMID:17304050 PMID:21309039 PMID:21520333 PMID:22903760 PMID:24789117 PMID:25741868 PMID:27406250 PMID:28492532 PMID:29432982 More...
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NCBI chr16:604,366...605,560
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G |
PTX4 |
pentraxin 4 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
NCBI chr16:105,005...113,730
Ensembl chr16:1,540,411...1,543,413
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G |
RAB40C |
RAB40C, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:606,023...640,714
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|
G |
RHBDL1 |
rhomboid like 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:690,053...692,580
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|
G |
RHOT2 |
ras homolog family member T2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:682,588...687,861
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G |
RNF151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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|
NCBI chr16:735,302...737,776
Ensembl chr16:2,055,918...2,057,965
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|
G |
RPL3L |
ribosomal protein L3 like |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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|
NCBI chr16:749,186...760,331
Ensembl chr16:2,033,466...2,043,719
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G |
RPS2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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|
NCBI chr16:739,562...742,323
Ensembl chr16:2,051,128...2,054,086
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|
G |
RPUSD1 |
RNA pseudouridine synthase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:800,191...806,007
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|
G |
SERPINC1 |
serpin family C member 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532 |
|
NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
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|
G |
SOX8 |
SRY-box transcription factor 8 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
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|
G |
SPSB3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:399,090...405,020
Ensembl chr16:1,830,040...1,835,504
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|
G |
SSTR5 |
somatostatin receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
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G |
STUB1 |
STIP1 homology and U-box containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
Ensembl chr16:694,414...696,682
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G |
SYNGR3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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|
NCBI chr16:710,090...714,421
Ensembl chr16:2,078,645...2,083,100
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G |
TBL3 |
transducin beta like 3 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:725,629...732,350
Ensembl chr16:2,061,199...2,067,715
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G |
TELO2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
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G |
TMEM204 |
transmembrane protein 204 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 |
|
NCBI chr16:152,459...178,785
Ensembl chr16:1,588,454...1,609,649
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G |
TPSG1 |
tryptase gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:1,222,933...1,226,415
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G |
TRAF7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
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|
G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
OMIM ClinVar |
PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 PMID:4461062 PMID:5279523 PMID:7558029 PMID:7581393 PMID:7823706 PMID:8519695 PMID:8634701 PMID:8799170 PMID:8824881 PMID:8825048 PMID:9045618 PMID:9076719 PMID:9242607 PMID:9285776 PMID:9302281 PMID:9328481 PMID:9361032 PMID:9412784 PMID:9452050 PMID:9463313 PMID:9536098 PMID:9580671 PMID:9829910 PMID:9881533 PMID:10069705 PMID:10090883 PMID:10205261 PMID:10206124 PMID:10215407 PMID:10227394 PMID:10330349 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10577937 PMID:10607950 PMID:10633137 PMID:10732801 PMID:10735580 PMID:10823953 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11129334 PMID:11208653 PMID:11281455 PMID:11290735 PMID:11403047 PMID:11437991 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11781698 PMID:11810271 PMID:11829138 PMID:12015165 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12511557 PMID:12752578 PMID:12869586 PMID:12906785 PMID:12913212 PMID:14508401 PMID:14641237 PMID:14718525 PMID:14756965 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15121792 PMID:15121797 PMID:15141215 PMID:15340059 PMID:15483652 PMID:15595939 PMID:15712319 PMID:15798777 PMID:15851026 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16042315 PMID:16114042 PMID:16129702 PMID:16199547 PMID:16237225 PMID:16417848 PMID:16464865 PMID:16554133 PMID:16822245 PMID:16835931 PMID:16877242 PMID:16981987 PMID:17005952 PMID:17034546 PMID:17120248 PMID:17287951 PMID:17304050 PMID:17536269 PMID:17576681 PMID:17671177 PMID:18032745 PMID:18230340 PMID:18302728 PMID:18308511 PMID:18411301 PMID:18414213 PMID:18466115 PMID:18550814 PMID:18695678 PMID:18722871 PMID:18772611 PMID:18792920 PMID:18830229 PMID:18854862 PMID:19166931 PMID:19254590 PMID:19258292 PMID:19259131 PMID:19369101 PMID:19419980 PMID:19747374 PMID:19823873 PMID:20108343 PMID:20165957 PMID:20301399 PMID:20399389 PMID:20498439 PMID:20633017 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21407201 PMID:21407264 PMID:21418539 PMID:21510812 PMID:21520333 PMID:21567926 PMID:21572417 PMID:21624971 PMID:21811971 PMID:21846442 PMID:21910228 PMID:22055460 PMID:22161988 PMID:22169896 PMID:22343534 PMID:22490766 PMID:22495309 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22707510 PMID:22748302 PMID:22791573 PMID:22805177 PMID:22867869 PMID:22903760 PMID:22974335 PMID:22995991 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24053982 PMID:24055113 PMID:24075384 PMID:24271014 PMID:24412076 PMID:24668795 PMID:24728327 PMID:24737435 PMID:24770934 PMID:24789117 PMID:24840834 PMID:25039834 PMID:25058500 PMID:25088526 PMID:25180276 PMID:25203624 PMID:25231023 PMID:25281918 PMID:25338684 PMID:25363768 PMID:25401301 PMID:25432535 PMID:25498131 PMID:25525159 PMID:25593300 PMID:25599672 PMID:25637381 PMID:25640679 PMID:25724664 PMID:25741868 PMID:25782670 PMID:25862857 PMID:25892863 PMID:25900779 PMID:25911330 PMID:25927202 PMID:25943403 PMID:25946256 PMID:26155992 PMID:26332594 PMID:26467025 PMID:26489027 PMID:26540169 PMID:26563443 PMID:26580448 PMID:26633542 PMID:26637798 PMID:26703369 PMID:26822237 PMID:26994145 PMID:27060308 PMID:27078846 PMID:27153395 PMID:27174333 PMID:27176796 PMID:27185581 PMID:27194594 PMID:27406250 PMID:27493206 PMID:27494029 PMID:27600092 PMID:27601542 PMID:27621404 PMID:27757534 PMID:27774772 PMID:27824329 PMID:27854218 PMID:27859028 PMID:27884173 PMID:27930734 PMID:28065512 PMID:28074849 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28191889 PMID:28202063 PMID:28211972 PMID:28215400 PMID:28250423 PMID:28302202 PMID:28336152 PMID:28397210 PMID:28407358 PMID:28409891 PMID:28492532 PMID:28505269 PMID:28600779 PMID:28623545 PMID:28643795 PMID:28659645 PMID:28687356 PMID:28771801 PMID:28786016 PMID:28873162 PMID:28968464 PMID:28991257 PMID:29101226 PMID:29167182 PMID:29196670 PMID:29265517 PMID:29271092 PMID:29286531 PMID:29308833 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29642139 PMID:29655203 PMID:29659200 PMID:29684080 PMID:29740858 PMID:29778030 PMID:29801666 PMID:29868112 PMID:29892012 PMID:29925043 PMID:29926239 PMID:29930392 PMID:29932062 PMID:29933521 PMID:30024541 PMID:30036593 PMID:30086788 PMID:30093976 PMID:30185235 PMID:30255984 PMID:30260069 PMID:30311386 PMID:30336374 PMID:30415495 PMID:30548481 PMID:30564305 PMID:30583724 PMID:30700906 PMID:30712878 PMID:30737501 PMID:30763456 PMID:30787465 PMID:30911571 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31069529 PMID:31140686 PMID:31370276 PMID:31375768 PMID:31444548 PMID:31525612 PMID:31586081 PMID:31591157 PMID:31623367 PMID:31650098 PMID:31655562 PMID:31780880 PMID:31785789 PMID:31799751 PMID:31819260 PMID:31832524 PMID:31855466 PMID:31856217 PMID:31875159 PMID:31927531 PMID:31981491 PMID:32005694 PMID:32193183 PMID:32211034 PMID:32216820 PMID:32313033 PMID:32340510 PMID:32382396 PMID:32390558 PMID:32410215 PMID:32461669 PMID:32477112 PMID:32502382 PMID:32555378 PMID:32581362 PMID:32647919 PMID:32830346 PMID:32849516 PMID:32860008 PMID:32917028 PMID:32917966 PMID:32964447 PMID:33074564 PMID:33084842 PMID:33226606 PMID:33391346 PMID:33436626 PMID:33437033 PMID:33532864 PMID:33574475 PMID:33575217 PMID:33686467 PMID:34070849 PMID:34081952 PMID:34219792 PMID:34246755 PMID:34252879 PMID:34403804 PMID:34489640 PMID:34575676 PMID:34754157 PMID:34804623 PMID:34849272 PMID:34992632 PMID:35231114 PMID:35288456 PMID:35307828 PMID:35441217 PMID:35571021 PMID:35599849 PMID:35712104 PMID:35768438 PMID:35918040 PMID:36030538 PMID:36117189 PMID:36229297 PMID:36232477 PMID:37228977 More...
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NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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G |
TSR3 |
TSR3 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:1,404,927...1,411,747
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G |
UBE2I |
ubiquitin conjugating enzyme E2 I |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:1,367,288...1,382,575
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G |
UNKL |
unk like zinc finger |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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NCBI chr16:11,145...39,682
Ensembl chr16:1,418,377...1,457,134
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G |
WDR24 |
WD repeat domain 24 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:699,142...704,869
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G |
WDR90 |
WD repeat domain 90 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
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Ensembl chr16:661,264...681,977
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G |
WFIKKN1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 |
|
|
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G |
ZNF598 |
zinc finger protein 598, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Tuberous sclerosis 2 |
ClinVar |
PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 PMID:25741868 PMID:28492532 PMID:29932062 More...
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NCBI chr16:694,562...706,711
Ensembl chr16:2,086,844...2,092,277
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G |
ABCA1 |
ATP binding cassette subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
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G |
AQP4 |
aquaporin 4 |
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ISO |
|
RGD |
PMID:20680099 |
RGD:5148028 |
NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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G |
B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
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G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
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G |
CALM3 |
calmodulin 3 |
|
ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr19:43,593,069...43,602,550
Ensembl chr19:52,121,687...52,131,135
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G |
CELSR1 |
cadherin EGF LAG seven-pass G-type receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:25741868 |
|
Ensembl chr22:45,428,159...45,604,453
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G |
COL4A1 |
collagen type IV alpha 1 chain |
|
ISO |
OMIM:236670 | OMIM:253280 |
MouseDO |
|
|
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22522420 PMID:22522421 |
|
NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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G |
DACT3 |
dishevelled binding antagonist of beta catenin 3 |
|
ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr19:43,639,921...43,653,473
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G |
DAG1 |
dystroglycan 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18923033 PMID:24824861 |
RGD:11537405 RGD:11537406 |
NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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G |
FKRP |
fukutin related protein |
|
ISO |
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome |
ClinVar |
PMID:6368217 PMID:10838249 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14523375 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16143867 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20236121 PMID:20623375 PMID:20675713 PMID:20961758 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:21296577 PMID:21816046 PMID:21886772 PMID:22264518 PMID:22451200 PMID:22981120 PMID:22983245 PMID:22995991 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24139536 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26986070 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27363342 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28492532 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30060766 PMID:30107846 PMID:30210031 PMID:30232282 PMID:30293248 PMID:30417025 PMID:30564623 PMID:30816495 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32351701 PMID:32419263 PMID:32429923 PMID:32576226 PMID:32746448 PMID:32864802 PMID:33051673 PMID:33077954 PMID:33200426 PMID:33250842 PMID:34008892 PMID:34440373 PMID:34509255 PMID:34602496 PMID:34653404 PMID:35239206 PMID:35741838 PMID:36522254 More...
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
FKTN |
fukutin |
|
ISO |
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15833426 PMID:16199547 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23746544 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:27521547 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30975432 PMID:31742715 PMID:31756055 PMID:31862442 PMID:31983221 PMID:32721234 PMID:32746448 PMID:32969603 PMID:33048919 PMID:33200426 PMID:34008892 PMID:34120883 PMID:35131284 PMID:35175440 PMID:35587316 PMID:35843586 More...
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
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G |
FSD1L |
fibronectin type III and SPRY domain containing 1 like |
|
ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 |
|
NCBI chr 9:76,619,595...76,717,372
Ensembl chr 9:104,761,018...104,837,806
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
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G |
GNG8 |
G protein subunit gamma 8 |
|
ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr19:43,626,498...43,637,618
Ensembl chr19:52,155,081...52,156,410
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G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
|
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NCBI chr22:14,077,463...14,929,250
|
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G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 More...
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:26060116 |
RGD:11532770 |
NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
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POMK |
protein O-mannose kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
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POMT1 |
protein O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome |
ClinVar |
PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28815891 PMID:29101272 PMID:30426380 PMID:31311558 PMID:31680349 PMID:32860008 PMID:34930662 PMID:35606784 More...
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NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Pagon syndrome |
ClinVar |
PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532 More...
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NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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PRKD2 |
protein kinase D2 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr19:43,666,591...43,710,858
Ensembl chr19:52,195,303...52,237,731
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PTGIR |
prostaglandin I2 receptor |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr19:43,613,065...43,617,700
Ensembl chr19:52,141,822...52,146,473
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RXYLT1 |
ribitol xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:23217329 PMID:24033266 PMID:25741868 PMID:27733679 PMID:28492532 |
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NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
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SLC44A1 |
solute carrier family 44 member 1 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,417,869...76,612,233
Ensembl chr 9:104,597,755...104,737,620
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STRN4 |
striatin 4 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241
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TAL2 |
TAL bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19266496 PMID:27065010 PMID:28492532 More...
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TMEM38B |
transmembrane protein 38B |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19266496 PMID:27065010 PMID:28492532 More...
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NCBI chr 9:76,854,177...76,938,334
Ensembl chr 9:104,980,935...105,128,988
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TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 More...
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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RAB18 |
RAB18, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Warburg micro syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:27,639,726...27,676,555
Ensembl chr10:28,001,249...28,037,527
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RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Warburg micro syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 |
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NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Warburg micro syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
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TBC1D20 |
TBC1 domain family member 20 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:644,646...670,860
Ensembl chr20:414,066...431,032
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RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Warburg micro syndrome 1 |
OMIM ClinVar |
PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 PMID:17351351 PMID:17576681 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23176487 PMID:23420520 PMID:25326635 PMID:25741868 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28454995 PMID:28492532 PMID:29300443 PMID:29878067 PMID:30202406 PMID:31319225 PMID:32740904 PMID:32870266 More...
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NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Warburg micro syndrome 2 |
OMIM ClinVar |
PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266 More...
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NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
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RAB18 |
RAB18, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Warburg micro syndrome 3 |
OMIM ClinVar |
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 |
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NCBI chr10:27,639,726...27,676,555
Ensembl chr10:28,001,249...28,037,527
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TBC1D20 |
TBC1 domain family member 20 |
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ISO |
ClinVar Annotator: match by term: Warburg micro syndrome 4 |
OMIM ClinVar |
PMID:24239381 PMID:25741868 PMID:32740904 |
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NCBI chr20:644,646...670,860
Ensembl chr20:414,066...431,032
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BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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ISO |
ClinVar Annotator: match by term: Webb-Dattani syndrome |
OMIM ClinVar |
PMID:24022475 PMID:25741868 PMID:28492532 |
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NCBI chr15:59,376,993...59,573,925
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ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
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NCBI chr 6:154,581,148...155,018,706
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
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NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
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KMT2A |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
OMIM ClinVar |
PMID:5519603 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25574841 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:26690532 PMID:27441994 PMID:27959697 PMID:28120103 PMID:28330790 PMID:28492532 PMID:28600779 PMID:29203834 PMID:29255178 PMID:29276034 PMID:29453417 PMID:29574747 PMID:30305169 PMID:30315573 PMID:30549396 PMID:31157197 PMID:31337854 PMID:32860008 PMID:33004838 PMID:33043602 PMID:33783954 More...
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NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
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SMC1A |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome |
ClinVar |
PMID:25574841 |
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NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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DCX |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation |
OMIM ClinVar |
PMID:9489699 PMID:9489700 PMID:9618162 PMID:10369164 PMID:10749977 PMID:11071144 PMID:11175293 PMID:11331616 PMID:11468322 PMID:12552055 PMID:12838518 PMID:17111359 PMID:18414213 PMID:18685874 PMID:22857951 PMID:23365099 PMID:25326635 PMID:25741868 PMID:25868952 PMID:28492532 PMID:29671837 PMID:29706646 PMID:30979500 PMID:31069529 PMID:32238909 PMID:32570172 PMID:34145886 PMID:35213059 More...
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NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
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ARX |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia |
OMIM ClinVar |
PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 PMID:14722918 PMID:17664401 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19738637 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532 PMID:32139178 More...
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NCBI chr X:17,598,858...17,612,544
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BAZ1A |
bromodomain adjacent to zinc finger domain 1A |
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ISO |
ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations |
ClinVar |
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NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
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FANCB |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 |
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NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817
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FANCL |
FA complementation group L |
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ISO |
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus |
ClinVar |
PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 PMID:29625052 More...
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NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
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PTEN |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly |
ClinVar |
PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 PMID:21828076 PMID:22628360 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29706350 PMID:29874181 More...
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NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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SALL1 |
spalt like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: VACTERL-H |
ClinVar |
PMID:25741868 |
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NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
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ZIC3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus |
OMIM ClinVar |
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 PMID:32753700 More...
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NCBI chr X:126,691,534...126,705,788
Ensembl chr X:136,954,024...136,967,819
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WLS |
Wnt ligand secretion mediator |
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ISO |
ClinVar Annotator: match by term: Zaki syndrome |
OMIM ClinVar |
PMID:25741868 PMID:34587386 |
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NCBI chr 1:67,336,009...67,470,265
Ensembl chr 1:69,318,742...69,425,652
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