RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: complex cortical dysplasia with other brain malformations
Accession: DOID:0090131
browse the term
Definition: A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. (DO)
Synonyms: exact_synonym: CDCBM; Cerebral Cortical Dysplasia; Cortical Development Malformation; Cortical Development Malformations; Cortical Dysplasia; Cortical Dysplasias; Malformations of Cerebral Cortex Development; cerebral cortical dysplasias; malformations of cortical development
narrow_synonym: FCD; Focal cortical dysplasia
primary_id: MESH:D054220
xref: OMIM:PS614039
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Akt3
AKT serine/threonine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22729223
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23603762
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Foxc1
forkhead box C1
ISO
RGD
PMID:20976766
RGD:12904052
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Foxp1
forkhead box P1
ISO
protein:altered expression:neocortex (human)
RGD
PMID:22759905
RGD:11560525
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IEP
protein:decreased expression:neocortex:
RGD
PMID:20618401
RGD:9686432
NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kif2a
kinesin family member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23603762
NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508
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Kif5c
kinesin family member 5C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23603762
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Kifbp
kinesin family binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15883926
NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22729223
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16020517
NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22729223
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Slc1a1
solute carrier family 1 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11906504
NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
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Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27666370
NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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Tbr1
T-box brain transcription factor 1
ISO
ClinVar Annotator: match by term: Cortical dysplasia
ClinVar
PMID:25741868
NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
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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...
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tubb2b
tubulin, beta 2B class IIb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19465910
NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638
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Tubg1
tubulin, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23603762
NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433
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Wdr62
WD repeat domain 62
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23341463
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Ankrd28
ankyrin repeat domain 28
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249
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Btd
biotinidase
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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C4h3orf20
similar to human chromosome 3 open reading frame 20
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254
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Capn7
calpain 7
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905
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Ccdc174
coiled-coil domain containing 174
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
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Chchd4
coiled-coil-helix-coiled-coil-helix domain containing 4
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414 Ensembl chr 1:123,968,265...123,977,414
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Colq
collagen like tail subunit of asymmetric acetylcholinesterase
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
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Dazl
deleted in azoospermia-like
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323
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Dph3
diphthamide biosynthesis 3
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265
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Eaf1
ELL associated factor 1
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071
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Efhb
EF hand domain family, member B
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919
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Fbln2
fibulin 2
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948
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Fgd5
FYVE, RhoGEF and PH domain containing 5
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563
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Galnt15
polypeptide N-acetylgalactosaminyltransferase 15
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014
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Grip2
glutamate receptor interacting protein 2
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268
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Hacl1
2-hydroxyacyl-CoA lyase 1
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
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Hdac11
histone deacetylase 11
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405
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Kat2b
lysine acetyltransferase 2B
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
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Kcnh8
potassium voltage-gated channel subfamily H member 8
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828
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Lsm3
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269
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Mettl6
methyltransferase 6, tRNA N3-cytidine
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975
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Mrps25
mitochondrial ribosomal protein S25
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057
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Nr2c2
nuclear receptor subfamily 2, group C, member 2
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902
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Nup210
nucleoporin 210
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:123,511,558...123,609,874
Ensembl chr 4:123,511,559...123,609,874
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Oxnad1
oxidoreductase NAD-binding domain containing 1
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540
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Plcl2
phospholipase C-like 2
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009
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Pp2d1
protein phosphatase 2C-like domain containing 1
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639
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Rab5a
RAB5A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873
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Rbsn
rabenosyn, RAB effector
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
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Rftn1
raftlin lipid raft linker 1
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084
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Satb1
SATB homeobox 1
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:21681106
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Sh3bp5
SH3-domain binding protein 5
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975
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Slc6a6
solute carrier family 6 member 6
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
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Tbc1d5
TBC1 domain family, member 5
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913
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Thumpd3
THUMP domain containing 3
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:21681106
NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246
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Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Wnt7a
Wnt family member 7A
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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Xpc
XPC complex subunit, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: 3p- syndrome
ClinVar
PMID:31690835
NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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Dcx
doublecortin
ISO
ClinVar Annotator: match by term: Abnormal cortical gyration
ClinVar
PMID:18414213
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
ISO
ClinVar Annotator: match by term: Abnormal cortical gyration
ClinVar
PMID:25741868
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Abnormal cortical gyration
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Dcps
decapping enzyme, scavenger
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Al-Raqad syndrome
OMIM CTD ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615
NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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Slc25a19
solute carrier family 25 member 19
ISO
CTD Direct Evidence: marker/mechanism 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 CTD ClinVar
PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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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 CTD Direct Evidence: marker/mechanism 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 CTD
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...
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Hivep2
HIVEP zinc finger 2
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13
ClinVar
PMID:25741868
NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
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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...
NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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Cradd
CASP2 and RIPK1 domain containing adaptor with death domain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
OMIM CTD ClinVar
PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828
NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
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Pidd1
p53-induced death domain protein 1
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...
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Klln
killin, p53-regulated DNA replication inhibitor
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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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
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...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
G
Pten
phosphatase and tensin homolog
ISS ISO
OMIM:158350 ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1
MouseDO ClinVar OMIM
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: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...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
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...
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
G
Actb
actin, beta
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...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
G
Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome
ClinVar
PMID:31231230 PMID:32028042
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
G
Actb
actin, beta
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
G
Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar
PMID:31231230 PMID:32028042
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
G
Actg1
actin, gamma 1
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:33584783 PMID:33604570 More...
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
G
Copb1
COPI coat complex subunit beta 1
ISO
ClinVar Annotator: match by term: Baralle-Macken syndrome
OMIM ClinVar
PMID:25741868 PMID:33632302
NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416
G
Med25
mediator complex subunit 25
ISO
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 More...
NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
G
Fbn1
fibrillin 1
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...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Thoc6
THO complex subunit 6
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
G
Adgrg1
adhesion G protein-coupled receptor G1
ISO
ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
G
Fig4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
G
Adgrg1
adhesion G protein-coupled receptor G1
ISO
ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive
OMIM ClinVar
PMID:25741868
NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
G
Ccnd2
cyclin D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29642246
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
G
Ddx23
DEAD-box helicase 23
ISO
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome
ClinVar
PMID:25741868
NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949
G
Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome
ClinVar
PMID:25741868
NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
G
Scn3a
sodium voltage-gated channel alpha subunit 3
ISO
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome
ClinVar
PMID:25741868 PMID:32515017
NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
G
Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome
ClinVar
PMID:25741868 PMID:33649541
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
G
Tubb2b
tubulin, beta 2B class IIb
ISO
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome
ClinVar
PMID:25741868
NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29529044
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
G
Aagab
alpha- and gamma-adaptin binding protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
G
Abhd17c
abhydrolase domain containing 17C, depalmitoylase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595
G
Abhd2
abhydrolase domain containing 2, acylglycerol lipase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061
G
Acan
aggrecan
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
G
Acsbg1
acyl-CoA synthetase bubblegum family member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
G
Actc1
actin, alpha, cardiac muscle 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
G
Adal
adenosine deaminase-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,101,857...108,119,557
Ensembl chr 3:108,101,857...108,118,516 Ensembl chr 3:108,101,857...108,118,516
G
Adam10
ADAM metallopeptidase domain 10
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
G
Adamts7
ADAM metallopeptidase with thrombospondin type 1 motif, 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328
G
Adamtsl3
ADAMTS-like 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986
G
Adpgk
ADP-dependent glucokinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
G
Aen
apoptosis enhancing nuclease
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,815,094...132,824,522
Ensembl chr 1:132,815,142...132,824,523
G
Afg2b
AFG2 AAA ATPase homolog B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
G
Agbl1
AGBL carboxypeptidase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
G
Akap13
A-kinase anchoring protein 13
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646
G
Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
G
Alpk3
alpha-kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302
G
Ankdd1a
ankyrin repeat and death domain containing 1A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651
G
Ankrd34c
ankyrin repeat domain 34C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,271,264...90,281,759
Ensembl chr 8:90,269,315...90,281,775
G
Ankrd63
ankyrin repeat domain 63
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,675,148...105,679,970
Ensembl chr 3:105,663,638...105,682,404
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Anp32a
acidic nuclear phosphoprotein 32 family member A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443
G
Anpep
alanyl aminopeptidase, membrane
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789
G
Anxa2
annexin A2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
G
Ap3b2
adaptor related protein complex 3 subunit beta 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
G
Ap3s2
adaptor related protein complex 3 subunit sigma 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
G
Ap4e1
adaptor related protein complex 4 subunit epsilon 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
G
Aph1b
aph-1 homolog B, gamma secretase subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
G
Aqp9
aquaporin 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
G
Aqr
aquarius intron-binding spliceosomal factor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,874,987...100,945,026
Ensembl chr 3:100,874,987...100,945,044
G
Arid3b
AT-rich interaction domain 3B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318
G
Arih1
ariadne RBR E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
G
Arnt2
aryl hydrocarbon receptor nuclear translocator 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
G
Arpin
actin-related protein 2/3 complex inhibitor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124
G
Arpp19
cAMP-regulated phosphoprotein 19
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452 Ensembl chr 8:75,779,523...75,802,452
G
Atosa
atos homolog A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549
G
Atp8b4
ATPase phospholipid transporting 8B4 (putative)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,554,979...113,757,635
Ensembl chr 3:113,556,192...113,757,225
G
Aven
apoptosis and caspase activation inhibitor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
G
B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
G
Bahd1
bromo adjacent homology domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,891,207...105,914,414
Ensembl chr 3:105,892,478...105,914,410
G
Bbs4
Bardet-Biedl syndrome 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
G
Bcl2a1
BCL2-related protein A1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998
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Bcl2l10
Bcl2-like 10
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
G
Blm
BLM RecQ like helicase
ISO ISS
ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM:210900 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
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:21440839 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 PMID:10779560 PMID:9388480 More...
RGD:1580056 , RGD:1599420
NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
G
Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
G
Bmf
Bcl2 modifying factor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
G
Bnc1
basonuclin zinc finger protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333
G
Bnip2
BCL2 interacting protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,640,436...70,661,782
Ensembl chr 8:70,640,445...70,675,590
G
Btbd1
BTB domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,734,549...135,773,067
Ensembl chr 1:135,734,589...135,771,981
G
Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
G
C1h15orf40
similar to human chromosome 15 open reading frame 40
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,725,869...135,732,028
Ensembl chr 1:135,717,545...135,732,039
G
C2cd4a
C2 calcium-dependent domain containing 4A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031
G
C2cd4b
C2 calcium-dependent domain containing 4B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328
G
C3h15orf48
similar to human chromosome 15 open reading frame 48
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
G
C3h15orf62
similar to human chromosome 15 open reading frame 62
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,164,179...106,167,404
Ensembl chr 3:106,157,382...106,167,831
G
C8h15orf39
similar to human chromosome 15 open reading frame 39
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941
G
C8h15orf61
similar to human chromosome 15 open reading frame 61
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751
G
Calml4
calmodulin-like 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234
G
Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
G
Car12
carbonic anhydrase 12
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
G
Catsper2
cation channel, sperm associated 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
G
Ccdc32
coiled-coil domain containing 32
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975
G
Ccdc33
coiled-coil domain containing 33
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
G
Ccdc9b
coiled-coil domain containing 9B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,736,120...105,745,039
Ensembl chr 3:105,739,174...105,744,697
G
Ccnb2
cyclin B2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874
G
Ccndbp1
cyclin D1 binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,962,402...107,974,234
Ensembl chr 3:107,962,261...107,974,233
G
Ccpg1
cell cycle progression 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
G
Cd276
Cd276 molecule
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
G
Cdan1
codanin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
G
Cdin1
CDAN1 interacting nuclease 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682
G
Celf6
CUGBP, Elav-like family member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041
G
Cemip
cell migration inducing hyaluronidase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415
G
Cep152
centrosomal protein 152
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
G
Cfap161
cilia and flagella associated protein 161
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,743,783...137,768,685
Ensembl chr 1:137,743,784...137,768,730
G
Cgnl1
cingulin-like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,273,401...72,424,842
Ensembl chr 8:72,275,645...72,422,917
G
Chac1
ChaC glutathione-specific gamma-glutamylcyclotransferase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,342,302...106,345,526
Ensembl chr 3:106,342,302...106,345,526
G
Chp1
calcineurin-like EF-hand protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251
G
Chrm5
cholinergic receptor, muscarinic 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,284,846...99,337,252
Ensembl chr 3:99,284,846...99,337,252
G
Chrna3
cholinergic receptor nicotinic alpha 3 subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
G
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
G
Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
G
Chst14
carbohydrate sulfotransferase 14
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
G
Ciao2a
cytosolic iron-sulfur assembly component 2A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455
G
Cib1
calcium and integrin binding 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
G
Cib2
calcium and integrin binding family member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,930,265...54,947,157
G
Cilp
cartilage intermediate layer protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
G
Cimap1c
ciliary microtubule associated protein 1C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004
G
Ckmt1
creatine kinase, mitochondrial 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
G
Clk3
CDC-like kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
G
Cln6
CLN6, transmembrane ER protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
G
Clpx
caseinolytic mitochondrial matrix peptidase chaperone subunit X
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
G
Commd4
COMM domain containing 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760
G
Cops2
COP9 signalosome subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,084,174...113,110,090
Ensembl chr 3:113,084,176...113,109,947
G
Coro2b
coronin 2B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302
G
Cox5a
cytochrome c oxidase subunit 5A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
G
Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
G
Cplx3
complexin 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
G
Crabp1
cellular retinoic acid binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
G
Crtc3
CREB regulated transcription coactivator 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500
G
Csk
C-terminal Src kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
G
Csnk1g1
casein kinase 1, gamma 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826
G
Cspg4
chondroitin sulfate proteoglycan 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
G
Ctdspl2
CTD small phosphatase like 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,915,263...108,970,620
Ensembl chr 3:108,915,280...108,967,227
G
Ctsh
cathepsin H
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
G
Ctxn2
cortexin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319
G
Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Dapk2
death-associated protein kinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567
G
Dennd4a
DENN domain containing 4A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330
G
Det1
DET1 partner of COP1 E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,749,736...132,765,963
Ensembl chr 1:132,749,756...132,765,923
G
Dis3l
DIS3-like exosome 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165
G
Disp2
dispatched RND transporter family member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,762,303...105,777,826
Ensembl chr 3:105,762,305...105,777,800
G
Dll4
delta like canonical Notch ligand 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
G
Dmxl2
Dmx-like 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
G
Dnaaf4
dynein axonemal assembly factor 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
G
Dnaja4
DnaJ heat shock protein family (Hsp40) member A4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,085,246...55,102,715
Ensembl chr 8:55,085,464...55,101,207
G
Dnajc17
DnaJ heat shock protein family (Hsp40) member C17
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,162,197...106,195,771
Ensembl chr 3:106,162,197...106,195,751
G
Dph6
diphthamine biosynthesis 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:101,307,229...101,437,463
Ensembl chr 3:101,307,231...101,534,603
G
Dpp8
dipeptidylpeptidase 8
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825
G
Dtwd1
DTW domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,392,402...113,409,322
Ensembl chr 3:113,392,457...113,408,105
G
Duox1
dual oxidase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
G
Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
G
Duoxa1
dual oxidase maturation factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
G
Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
G
Dut
deoxyuridine triphosphatase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
G
Edc3
enhancer of mRNA decapping 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671
G
Efl1
elongation factor like GTPase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
G
Ehd4
EH-domain containing 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,058,191...107,121,985
Ensembl chr 3:107,058,958...107,122,002
G
Eid1
EP300 interacting inhibitor of differentiation 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,922,961...112,924,680
Ensembl chr 3:112,922,668...112,924,752
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
G
Eif3j
eukaryotic translation initiation factor 3, subunit J
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
G
Ell3
elongation factor for RNA polymerase II 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,413,035...108,417,181
Ensembl chr 3:108,410,448...108,417,132
G
Emc4
ER membrane protein complex subunit 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729
G
Emc7
ER membrane protein complex subunit 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,263,933...99,274,365
Ensembl chr 3:99,263,980...99,274,360
G
Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
G
Etfa
electron transfer flavoprotein subunit alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
G
Exd1
exonuclease 3'-5' domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,507,839...106,535,922
Ensembl chr 3:106,508,076...106,535,922
G
Fah
fumarylacetoacetate hydrolase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
G
Fam219b
family with sequence similarity 219, member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906
G
Fam227b
family with sequence similarity 227, member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,226,662...113,392,396
Ensembl chr 3:113,233,205...113,392,320
G
Fam81a
family with sequence similarity 81, member A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,762,852...70,821,898
Ensembl chr 8:70,763,614...70,821,875
G
Fam98b
family with sequence similarity 98, member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fbxl22
F-box and leucine-rich repeat protein 22
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685
G
Fbxo22
F-box protein 22
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148
G
Fem1b
fem-1 homolog B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
G
Fes
FES proto-oncogene, tyrosine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
G
Fgf7
fibroblast growth factor 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
G
Foxb1
forkhead box B1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,407,221...70,409,841
Ensembl chr 8:70,408,186...70,409,781
G
Frmd5
FERM domain containing 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498
G
Fsd2
fibronectin type III and SPRY domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472
G
Fsip1
fibrous sheath interacting protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,074,584...105,217,180
Ensembl chr 3:105,068,543...105,217,167
G
Furin
furin (paired basic amino acid cleaving enzyme)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
G
Gabpb1
GA binding protein transcription factor subunit beta 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,879,972...113,924,742
Ensembl chr 3:113,879,973...113,923,696
G
Galk2
galactokinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,110,057...113,243,014
Ensembl chr 3:113,110,030...113,233,306
G
Ganc
glucosidase, alpha; neutral C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,353,369...107,406,104
Ensembl chr 3:107,353,369...107,405,241
G
Gatm
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
G
Gchfr
GTP cyclohydrolase I feedback regulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080
G
Gcnt3
glucosaminyl (N-acetyl) transferase 3, mucin type
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,689,173...70,696,476
Ensembl chr 8:70,686,844...70,699,562
G
Gdpgp1
GDP-D-glucose phosphorylase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783
G
Gjd2
gap junction protein, delta 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
G
Glce
glucuronic acid epimerase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,546,104...62,612,144
Ensembl chr 8:62,546,107...62,612,040
G
Gldn
gliomedin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
G
Gnb5
G protein subunit beta 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
G
Golm2
golgi membrane protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,827,017...108,896,207
Ensembl chr 3:108,827,047...108,896,207
G
Gpr176
G protein-coupled receptor 176
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,236,794...105,337,664
Ensembl chr 3:105,236,795...105,337,226
G
Gramd2a
GRAM domain containing 2A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842
G
Grem1
gremlin 1, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082
G
Gtf2a2
general transcription factor 2A subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,662,447...70,675,576
Ensembl chr 8:70,662,428...70,675,569
G
Hacd3
3-hydroxyacyl-CoA dehydratase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507
G
Hapln3
hyaluronan and proteoglycan link protein 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177
G
Haus2
HAUS augmin like complex subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,553,146...107,565,982
Ensembl chr 3:107,553,161...107,565,157
G
Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
G
Hdc
histidine decarboxylase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
G
Hddc3
HD domain containing 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757
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 chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
G
Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
G
Hmg20a
high mobility group 20A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656
G
Homer2
homer scaffold protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772
G
Hykk
hydroxylysine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339
G
Hypk
Huntingtin interacting protein K
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,434,997...108,436,370
Ensembl chr 3:108,432,539...108,436,370
G
Ice2
interactor of little elongation complex ELL subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,043,419...70,085,217
Ensembl chr 8:70,043,424...70,084,995
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
G
Idh3a
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084
G
Igdcc3
immunoglobulin superfamily, DCC subclass, member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959
G
Igdcc4
immunoglobulin superfamily, DCC subclass, member 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648
G
Il16
interleukin 16
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
G
Imp3
IMP U3 small nucleolar ribonucleoprotein 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
G
Ino80
INO80 complex ATPase subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,368,455...106,465,716
Ensembl chr 3:106,368,455...106,467,911
G
Insyn1
inhibitory synaptic factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843
G
Ints14
integrator complex subunit 14
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804
G
Iqch
IQ motif containing H
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223
G
Iqgap1
IQ motif containing GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
G
Ireb2
iron responsive element binding protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
G
Isg20
interferon stimulated exonuclease gene 20
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,829,303...132,837,027
Ensembl chr 1:132,815,123...132,837,027
G
Isl2
ISL LIM homeobox 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790
G
Islr
immunoglobulin superfamily containing leucine-rich repeat
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130
G
Islr2
immunoglobulin superfamily containing leucine-rich repeat 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650
G
Itga11
integrin subunit alpha 11
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407
G
Itpka
inositol-trisphosphate 3-kinase A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,726,036...106,734,601
Ensembl chr 3:106,726,036...106,734,600
G
Ivd
isovaleryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
G
Jmjd7
jumonji domain containing 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,998,454...107,004,538
Ensembl chr 3:106,998,477...107,004,538
G
Katnbl1
katanin regulatory subunit B1 like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,183,748...99,225,789
Ensembl chr 3:99,183,716...99,225,786
G
Kbtbd13
kelch repeat and BTB domain containing 13
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,909,821...65,911,558
G
Kif23
kinesin family member 23
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072
G
Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
G
Klhl25
kelch-like family member 25
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:129,724,894...129,750,142
Ensembl chr 1:129,722,026...129,750,227
G
Knl1
kinetochore scaffold 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
G
Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
G
Lactb
lactamase, beta
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539
G
Larp6
La ribonucleoprotein 6, translational regulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,183,744...61,205,548
Ensembl chr 8:61,184,116...61,205,535
G
Lcmt2
leucine carboxyl methyltransferase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,099,960...108,102,084
Ensembl chr 3:108,099,961...108,102,084
G
Lctl
lactase-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357
G
Ldhal6b
lactate dehydrogenase A-like 6B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272
G
Leo1
LEO1 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983
G
Lingo1
leucine rich repeat and Ig domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544
G
Lipc
lipase C, hepatic type
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
G
Lman1l
lectin, mannose-binding, 1 like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681
G
LOC120094549
U5 spliceosomal RNA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991
G
LOC120094551
U6 spliceosomal RNA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146
G
Loxl1
lysyl oxidase-like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
G
Lpcat4
lysophosphatidylcholine acyltransferase 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875
G
Lrrc49
leucine rich repeat containing 49
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,053,264...61,160,695
Ensembl chr 8:61,053,267...61,160,850
G
Lrrc57
leucine rich repeat containing 57
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,544,786...107,553,256
Ensembl chr 3:107,547,405...107,553,256
G
Ltk
leukocyte receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369
G
Lysmd2
LysM domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654
G
Man2a2
mannosidase, alpha, class 2A, member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
G
Man2c1
mannosidase, alpha, class 2C, member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
G
Map1a
microtubule-associated protein 1A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899
G
Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Map2k5
mitogen activated protein kinase kinase 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
G
Mapk6
mitogen-activated protein kinase 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720
G
Mapkbp1
mitogen activated protein kinase binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199
G
Megf11
multiple EGF-like-domains 11
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061
G
Meis2
Meis homeobox 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
G
Mesd
mesoderm development LRP chaperone
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999
G
Mesp1
mesoderm posterior bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
G
Mesp2
mesoderm posterior bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
G
Mex3b
mex-3 RNA binding family member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,855,130...136,859,365
Ensembl chr 1:136,855,130...136,859,354
G
Mfap1a
microfibrillar-associated protein 1A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,440,163...108,456,744
Ensembl chr 3:108,438,845...108,456,750
G
Mfge8
milk fat globule EGF and factor V/VIII domain containing
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
G
Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
G
Minar1
membrane integral NOTCH2 associated receptor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,137,374...90,169,152
Ensembl chr 8:90,137,374...90,169,137
G
Mindy2
MINDY lysine 48 deubiquitinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,268,274...71,327,698
Ensembl chr 8:71,256,447...71,328,453
G
Mir184
microRNA 184
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
G
Mir9-3
microRNA 9-3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,440,049...133,440,138
G
Mns1
meiosis-specific nuclear structural 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
G
Morf4l1
mortality factor 4 like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519
G
Mpi
mannose phosphate isomerase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
G
Mrpl46
mitochondrial ribosomal protein L46
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,698,872...132,707,639
Ensembl chr 1:132,698,601...132,707,628
G
Mrps11
mitochondrial ribosomal protein S11
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,707,601...132,717,253
Ensembl chr 1:132,680,420...132,717,253
G
Mtfmt
mitochondrial methionyl-tRNA formyltransferase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
G
Mthfs
methenyltetrahydrofolate synthetase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
G
Myef2
myelin expression factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
G
Myo1e
myosin IE
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
G
Myo5a
myosin VA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
G
Myo5c
myosin VC
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483
G
Myo9a
myosin IXA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
G
Myzap
myocardial zonula adherens protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
G
Ndufaf1
NADH:ubiquinone oxidoreductase complex assembly factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212
G
Nedd4
NEDD4 E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
G
Neil1
nei-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
G
Neo1
neogenin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
G
Ngrn
neugrin, neurite outgrowth associated
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339
G
Nmb
neuromedin B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190
G
Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
G
Nptn
neuroplastin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
G
Nr2e3
nuclear receptor subfamily 2, group E, member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
G
Nrg4
neuregulin 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483
G
Nsmce2
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
ISS
OMIM:210900
MouseDO
NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
G
Ntrk3
neurotrophic receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
G
Nusap1
nucleolar and spindle associated protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
G
Nutm1
NUT midline carcinoma, family member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311
G
Oaz2
ornithine decarboxylase antizyme 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453
G
Oip5
Opa interacting protein 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,593,746...106,603,281
Ensembl chr 3:106,593,760...106,603,250
G
Onecut1
one cut homeobox 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277
G
Pak6
p21 (RAC1) activated kinase 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975
G
Paqr5
progestin and adipoQ receptor family member 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,431,867...62,513,688
Ensembl chr 8:62,431,867...62,513,688
G
Parp16
poly (ADP-ribose) polymerase family, member 16
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433
G
Parp6
poly (ADP-ribose) polymerase family, member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108
G
Patl2
PAT1 homolog 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
G
Pclaf
PCNA clamp associated factor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994 Ensembl chr 8:66,420,587...66,432,994
G
Pdcd7
programmed cell death 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333
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Pde8a
phosphodiesterase 8A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,166,143...135,288,986
Ensembl chr 1:135,166,237...135,288,024
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Pdia3
protein disulfide isomerase family A, member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Peak1
pseudopodium-enriched atypical kinase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,605,040...56,819,748
Ensembl chr 8:56,609,015...56,819,096
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Pex11a
peroxisomal biogenesis factor 11 alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
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Phgr1
proline, histidine and glycine rich 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,742,822...105,760,835
Ensembl chr 3:105,757,581...105,760,832
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Pias1
protein inhibitor of activated STAT, 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
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Pierce2
piercer of microtubule wall 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849
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Pif1
PIF1 5'-to-3' DNA helicase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200
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Pigb
phosphatidylinositol glycan anchor biosynthesis, class B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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Pkm
pyruvate kinase M1/2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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Pla2g4b
phospholipase A2 group IVB
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,004,238...107,013,853
Ensembl chr 3:107,005,489...107,013,853
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Pla2g4d
phospholipase A2 group IVD
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,220,973...107,242,224
Ensembl chr 3:107,220,978...107,242,224
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Pla2g4e
phospholipase A2, group IVE
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,132,540...107,198,609
Ensembl chr 3:107,132,541...107,198,233
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Pla2g4f
phospholipase A2, group IVF
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,249,053...107,266,201
Ensembl chr 3:107,250,075...107,264,689
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Plcb2
phospholipase C, beta 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
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Plekho2
pleckstrin homology domain containing O2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266
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Plin1
perilipin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
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Pml
PML nuclear body scaffold
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Polr2m
RNA polymerase II subunit M
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,131,992...72,139,423
Ensembl chr 8:72,131,530...72,243,036
G
Ppcdc
phosphopantothenoylcysteine decarboxylase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570
G
Ppib
peptidylprolyl isomerase B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428
G
Ppip5k1
diphosphoinositol pentakisphosphate kinase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428
G
Ppp1r14d
protein phosphatase 1, regulatory (inhibitor) subunit 14D
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,205,043...106,219,290
Ensembl chr 3:106,205,046...106,219,649
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Prc1
protein regulator of cytokinesis 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765
G
Prtg
protogenin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,548,440...73,657,945
Ensembl chr 8:73,548,466...73,653,259
G
Psma4
proteasome 20S subunit alpha 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
G
Ptpn9
protein tyrosine phosphatase, non-receptor type 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
G
Pygo1
pygopus family PHD finger 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,666,210...73,684,873
Ensembl chr 8:73,665,593...73,684,869
G
Rab11a
RAB11a, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
G
Rab8b
RAB8B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384
G
Rad51
RAD51 recombinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
G
Ramac
RNA guanine-7 methyltransferase activating subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,708,529...135,714,417
Ensembl chr 1:135,708,535...135,722,151
G
Rasgrf1
RAS protein-specific guanine nucleotide-releasing factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
G
Rasgrp1
RAS guanyl releasing protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
G
Rasl12
RAS-like, family 12
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
G
Rbpms2
RNA binding protein, mRNA processing factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268
G
Rccd1
RCC1 domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781
G
Rcn2
reticulocalbin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251
G
Rec114
REC114 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
G
Rfx7
regulatory factor X, 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209
G
Rhcg
Rh family, C glycoprotein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
G
Rhov
ras homolog family member V
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,260,774...106,270,009
Ensembl chr 3:106,260,776...106,269,479
G
Rlbp1
retinaldehyde binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
G
Rmdn3
regulator of microtubule dynamics 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,125,961...106,146,568
Ensembl chr 3:106,125,951...106,146,586
G
Rnf111
ring finger protein 111
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,103,967...71,180,172
Ensembl chr 8:71,103,973...71,145,070
G
Rora
RAR-related orphan receptor A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:69,301,635...70,034,741
Ensembl chr 8:69,301,733...70,025,931
G
Rpap1
RNA polymerase II associated protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,746,642...106,768,182
Ensembl chr 3:106,656,742...106,768,151
G
Rpl4
ribosomal protein L4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306
G
Rplp1
ribosomal protein lateral stalk subunit P1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,394,008...62,395,341
Ensembl chr 8:62,393,177...62,395,339
G
Rpp25
ribonuclease P and MRP subunit p25
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732
G
Rps17
ribosomal protein S17
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
G
Rps27l
ribosomal protein S27-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418
G
Rpusd2
RNA pseudouridine synthase domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,017,759...106,023,010
Ensembl chr 3:106,017,864...106,023,251
G
Rsl24d1
ribosomal L24 domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,852,991...73,861,996
Ensembl chr 8:73,852,996...73,862,001
G
Rtf1
Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970
G
Ryr3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
G
Saxo2
stabilizer of axonemal microtubules 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,596,445...136,638,444
Ensembl chr 1:136,623,493...136,638,454
G
Scamp2
secretory carrier membrane protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646
G
Scamp5
secretory carrier membrane protein 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027
G
Scaper
S-phase cyclin A-associated protein in the ER
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
G
Scarna15
small Cajal body-specific RNA 15
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,484,620...135,484,683
Ensembl chr 1:135,484,559...135,484,685 Ensembl chr 1:135,484,559...135,484,685
G
Scg3
secretogranin III
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
G
Scg5
secretogranin V
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
G
Sec11a
SEC11 homolog A, signal peptidase complex subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,881,448...134,909,427
Ensembl chr 1:134,875,265...134,915,069
G
Secisbp2l
SECIS binding protein 2-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,989,613...113,036,060
Ensembl chr 3:112,991,908...113,035,884
G
Sema4b
semaphorin 4B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775
G
Sema6d
semaphorin 6D
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094
G
Sema7a
semaphorin 7A (John Milton Hagen blood group)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
G
Senp8
SUMO peptidase family member, NEDD8 specific
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928
G
Serf2
small EDRK-rich factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,426,960...108,430,736
Ensembl chr 3:108,426,887...108,430,724
G
Serinc4
serine incorporator 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,428,896...108,434,778
Ensembl chr 3:108,428,897...108,434,778
G
Sh2d7
SH2 domain containing 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726
G
Sh3gl3
SH3 domain containing GRB2 like 3, endophilin A3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,124,500...136,255,669
Ensembl chr 1:136,124,499...136,255,584
G
Shc4
SHC adaptor protein 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,880,598...112,974,216
Ensembl chr 3:112,880,600...112,974,366
G
Shf
Src homology 2 domain containing F
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
G
Sin3a
SIN3 transcription regulator family member A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
G
Skic8
SKI8 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,103,542...55,120,837
Ensembl chr 8:55,103,545...55,120,813
G
Skor1
SKI family transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756
G
Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
G
Slc12a6
solute carrier family 12, member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
G
Slc24a1
solute carrier family 24 member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
G
Slc24a5
solute carrier family 24 member 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
G
Slc27a2
solute carrier family 27 member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208
G
Slc28a1
solute carrier family 28 member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464
G
Slc28a2
solute carrier family 28 member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
G
Slc30a4
solute carrier family 30 member 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
G
Slc51b
SLC51 subunit beta
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
G
Sltm
SAFB-like, transcription modulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825
G
Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
G
Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
G
Snap23
synaptosome associated protein 23
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,514,088...107,546,177
Ensembl chr 3:107,514,131...107,544,320
G
Snapc5
small nuclear RNA activating complex, polypeptide 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
G
Snupn
snurportin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912
G
Snx1
sorting nexin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,630,086...66,670,418
Ensembl chr 8:66,630,086...66,670,360
G
Snx22
sorting nexin 22
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850
G
Snx33
sorting nexin 33
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538
G
Sord
sorbitol dehydrogenase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
G
Spesp1
sperm equatorial segment protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,751,313...62,766,657
Ensembl chr 8:62,751,297...62,766,718
G
Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
G
Spg21
SPG21 abhydrolase domain containing, maspardin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
G
Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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Sppl2a
signal peptide peptidase-like 2A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
G
Spred1
sprouty-related, EVH1 domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
G
Sptbn5
spectrin, beta, non-erythrocytic 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,013,783...107,054,878
Ensembl chr 3:107,013,265...107,054,324
G
Sqor
sulfide quinone oxidoreductase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,841,225...109,886,724
Ensembl chr 3:109,841,250...109,960,778
G
Srp14
signal recognition particle 14
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,442,184...105,445,875
Ensembl chr 3:105,442,198...105,445,859
G
Stard5
StAR-related lipid transfer domain containing 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,606,151...137,616,017
Ensembl chr 1:137,606,177...137,616,469
G
Stard9
StAR-related lipid transfer domain containing 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898
G
Stoml1
stomatin like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860
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Stra6
signaling receptor and transporter of retinol STRA6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
G
Strc
stereocilin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
G
Tbc1d21
TBC1 domain family, member 21
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711
G
Tbc1d2b
TBC1 domain family, member 2B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832
G
Tcf12
transcription factor 12
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
G
Terb2
telomere repeat binding bouquet formation protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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Tex9
testis expressed 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
G
Tgm5
transglutaminase 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,008,087...108,044,013
Ensembl chr 3:108,008,143...108,043,976
G
Tgm7
transglutaminase 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,051,890...108,068,116
Ensembl chr 3:108,051,890...108,076,239
G
Thbs1
thrombospondin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
G
Thsd4
thrombospondin type 1 domain containing 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995
G
Ticrr
TOPBP1-interacting checkpoint and replication regulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523
G
Tipin
timeless interacting protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352
G
Tle3
TLE family member 3, transcriptional corepressor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
G
Tln2
talin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219
G
Tlnrd1
talin rod domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359
G
Tm6sf1
transmembrane 6 superfamily member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443
G
Tmc3
transmembrane channel-like 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,552,347...137,597,477
Ensembl chr 1:137,552,455...137,597,633
G
Tmco5a
transmembrane and coiled-coil domains 5A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:103,732,936...103,746,242
Ensembl chr 3:103,732,945...103,746,249
G
Tmed3
transmembrane p24 trafficking protein 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,241,516...90,249,429
Ensembl chr 8:90,241,516...90,249,346
G
Tmem202
transmembrane protein 202
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609
G
Tmem266
transmembrane protein 266
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692
G
Tmem62
transmembrane protein 62
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,921,940...107,961,830
Ensembl chr 3:107,927,307...107,961,795
G
Tmem87a
transmembrane protein 87A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,307,726...107,353,571
Ensembl chr 3:107,307,726...107,353,551
G
Tmod2
tropomodulin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720
G
Tmod3
tropomodulin 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977
G
Tnfaip8l3
TNF alpha induced protein 8 like 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079
G
Tp53bp1
tumor protein p53 binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
G
Tpm1
tropomyosin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
G
Trim69
tripartite motif-containing 69
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
G
Trip4
thyroid hormone receptor interactor 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
G
Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
G
Tspan3
tetraspanin 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,546,067...56,569,815
Ensembl chr 8:56,546,069...56,569,880
G
Ttbk2
tau tubulin kinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
G
Tubgcp4
tubulin gamma complex component 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
G
Tyro3
TYRO3 protein tyrosine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142
G
Uaca
uveal autoantigen with coiled-coil domains and ankyrin repeats
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,259,415...61,347,789
Ensembl chr 8:61,259,477...61,347,789
G
Ubap1l
ubiquitin associated protein 1-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593
G
Ube2q2
ubiquitin conjugating enzyme E2 Q2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212
G
Ubl7
ubiquitin-like 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344
G
Ubr1
ubiquitin protein ligase E3 component n-recognin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
G
Ulk3
unc-51 like kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
G
Unc13c
unc-13 homolog C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223
G
Unc45a
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
G
Ung
uracil-DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2106500
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
G
Usp3
ubiquitin specific peptidase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
G
Usp50
ubiquitin specific peptidase 50
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476
G
Usp8
ubiquitin specific peptidase 8
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
G
Vps13c
vacuolar protein sorting 13 homolog C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
G
Vps18
VPS18 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,279,444...106,290,298
Ensembl chr 3:106,279,425...106,291,964
G
Vps39
VPS39 subunit of HOPS complex
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975
G
Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
G
Wdr73
WD repeat domain 73
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
G
Wdr76
WD repeat domain 76
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,456,784...108,491,528
Ensembl chr 3:108,456,815...108,490,840
G
Wdr93
WD repeat domain 93
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630
G
Whamm
WASP homolog associated with actin, golgi membranes and microtubules
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759
G
Zfand6
zinc finger AN1-type containing 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939
G
Zfp106
zinc finger protein 106
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481
G
Zfp280d
zinc finger protein 280D
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,992,655...73,080,482
Ensembl chr 8:72,992,650...73,080,480
G
Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
G
Zfp609
zinc finger protein 609
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977
G
Zfp710
zinc finger protein 710
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601
G
Zfp770
zinc finger protein 770
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,963,430...100,971,663
Ensembl chr 3:100,963,427...100,971,684
G
Zfyve19
zinc finger FYVE-type containing 19
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969
G
Zscan2
zinc finger and SCAN domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,833,701...134,848,957
Ensembl chr 1:134,833,871...134,848,952
G
Zscan29
zinc finger and SCAN domain containing 29
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
Ensembl chr 3:108,131,018...108,140,486
G
Zwilch
zwilch kinetochore protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916
G
Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Porencephaly 2
ClinVar
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
G
Col4a2
collagen type IV alpha 2 chain
susceptibility
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...
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
G
Ccdc32
coiled-coil domain containing 32
ISO
ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome
OMIM ClinVar
PMID:25741868 PMID:32307552 PMID:35451546
NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975
G
Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
G
Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdkl5
cyclin-dependent kinase-like 5
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...
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Hivep2
HIVEP zinc finger 2
ISO
ClinVar Annotator: match by term: Angelman syndrome-like
ClinVar
PMID:25741868
NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
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Htatsf1
HIV-1 Tat specific factor 1
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
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Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Rs1
retinoschisin 1
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...
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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Slc9a6
solute carrier family 9 member A6
ISO ISS
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE OMIM:300243 CTD Direct Evidence: marker/mechanism 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 MouseDO CTD
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:35032046 PMID:35334527 More...
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,979,657...134,996,007
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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Adamts17
ADAM metallopeptidase with thrombospondin type 1 motif, 17
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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Aldh1a3
aldehyde dehydrogenase 1 family, member A3
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
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Asb7
ankyrin repeat and SOCS box-containing 7
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282
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Cers3
ceramide synthase 3
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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Chsy1
chondroitin sulfate synthase 1
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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Igf1r
insulin-like growth factor 1 receptor
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Lins1
lines homolog 1
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
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Lrrc28
leucine rich repeat containing 28
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784
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Lrrk1
leucine-rich repeat kinase 1
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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Lysmd4
LysM domain containing 4
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135
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Mef2a
myocyte enhancer factor 2a
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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Pgpep1l
pyroglutamyl-peptidase I-like
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407
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Synm
synemin
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652
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Ttc23
tetratricopeptide repeat domain 23
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
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Rnf135
ring finger protein 135
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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Acp6
acid phosphatase 6, lysophosphatidic
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
ClinVar
NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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Bcl9
BCL9, transcription coactivator
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
ClinVar
NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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Chd1l
chromodomain helicase DNA binding protein 1-like
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
ClinVar
NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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Fmo5
flavin containing dimethylaniline monoxygenase 5
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
ClinVar
NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
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Gja5
gap junction protein, alpha 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Gja8
gap junction protein, alpha 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
CTD ClinVar
PMID:25741868 PMID:26694549 PMID:28492532
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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Gpr89b
G protein-coupled receptor 89B
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
ClinVar
NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
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Prkab2
protein kinase AMP-activated non-catalytic subunit beta 2
ISO
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
ClinVar
NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
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Tp73
tumor protein p73
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly
OMIM ClinVar
PMID:25741868 PMID:34077761
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Nsdhl
NAD(P) dependent steroid dehydrogenase-like
ISO
ClinVar Annotator: match by term: CK syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Dcx
doublecortin
ISO
DNA:missense mutation:exon:p.D262G (c.785A>G) (human) ClinVar Annotator: match by term: Lissencephaly, X-linked CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.A71S (211G>T) (human) DNA:missense mutations: :multiple
ClinVar CTD RGD
PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 PMID:27292316 PMID:11071144 PMID:12838518 More...
RGD:11568595 , RGD:12904735 , RGD:12904728
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Lamb1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Classic lissencephaly
ClinVar
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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Mnt
MAX network transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15028671
NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
ISO
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Meis2
Meis homeobox 2
ISO
ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30055086 PMID:30291340 PMID:33526774 More...
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Ankrd46
ankyrin repeat domain 46
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
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Atp6v1c1
ATPase H+ transporting V1 subunit C1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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Azin1
antizyme inhibitor 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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Baalc
BAALC binder of MAP3K1 and KLF4
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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Cox6c
cytochrome c oxidase subunit 6C
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
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Cthrc1
collagen triple helix repeat containing 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
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Dcaf13
DDB1 and CUL4 associated factor 13
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
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Dcstamp
dendrocyte expressed seven transmembrane protein
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
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Dpys
dihydropyrimidinase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
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Fbxo43
F-box protein 43
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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Grhl2
grainyhead-like transcription factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Kcns2
potassium voltage-gated channel, modifier subfamily S, member 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
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Klf10
KLF transcription factor 10
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
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Lrp12
LDL receptor related protein 12
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
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Mir875
microRNA 875
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532
NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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Myo7a
myosin VIIA
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Ncald
neurocalcin delta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496
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Nipal2
NIPA-like domain containing 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
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Odf1
outer dense fiber of sperm tails 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664
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Osr2
odd-skipped related transciption factor 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224
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Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
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Polr2k
RNA polymerase II, I and III subunit K
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Rgs22
regulator of G-protein signaling 22
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875
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Rims2
regulating synaptic membrane exocytosis 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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Rnf19a
ring finger protein 19A, RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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Slc25a32
solute carrier family 25 member 32
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
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Snx31
sorting nexin 31
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086
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Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
G
Stk3
serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233
G
Ubr5
ubiquitin protein ligase E3 component n-recognin 5
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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Vps13b
vacuolar protein sorting 13 homolog B
ISO ISS
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM:216550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
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: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:34353225 PMID:34425733 More...
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Zfp706
zinc finger protein 706
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148
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Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: Cohen syndrome
ClinVar
PMID:28492532
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Mitf
melanocyte inducing transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
CTD OMIM ClinVar
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Tubb2b
tubulin, beta 2B class IIb
ISO
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1
ClinVar
PMID:25741868
NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638
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Tubb3
tubulin, beta 3 class III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1
OMIM CTD ClinVar
PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:23378218 PMID:25059107 PMID:25131622 PMID:25741868 PMID:26130693 PMID:26639658 PMID:26739025 PMID:28492532 PMID:28677066 PMID:28726809 PMID:29261186 PMID:29269699 PMID:29382549 PMID:29706646 PMID:30667171 PMID:31219644 PMID:31226147 PMID:31269740 PMID:32570172 PMID:32901917 PMID:33921132 PMID:34863918 PMID:34869359 More...
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Apc2
APC regulator of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31585108
NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
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Kif26a
kinesin family member 26A
ISO
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 11
OMIM ClinVar
PMID:25741868 PMID:36228617
NCBI chr 6:131,214,839...131,250,874
Ensembl chr 6:131,214,861...131,250,320
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Camsap1
calmodulin regulated spectrin-associated protein 1
ISO
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12
OMIM ClinVar
PMID:25741868 PMID:36283405
NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23033978 PMID:23603762 PMID:24088041 PMID:24812067 PMID:25741868 PMID:26633545 PMID:29048727 PMID:34490615 PMID:35231114 More...
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Kif2a
kinesin family member 2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 3
OMIM CTD ClinVar
PMID:23603762 PMID:25741868 PMID:27747449 PMID:28492532
NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508
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Tubg1
tubulin, gamma 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 4
OMIM CTD ClinVar
PMID:23603762 PMID:25741868 PMID:28492532
NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433
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Tubb2a
tubulin, beta 2A class IIa
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 | ClinVar Annotator: match by term: TUBB2A-related condition
OMIM CTD 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...
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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Tubb5
tubulin, beta 5 class I
ISO
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 PMID:29706646 PMID:30738969 PMID:32085672 PMID:34211110 PMID:35183200 More...
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Tubb2b
tubulin, beta 2B class IIb
ISO ISS
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 7 | ClinVar Annotator: match by term: TUBB2B-related condition OMIM:610031 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9628483 PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:22591407 PMID:23001566 PMID:25059107 PMID:25140959 PMID:25741868 PMID:26467025 PMID:26732629 PMID:28492532 PMID:29671837 PMID:31481326 More...
NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638
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Ctnna2
catenin alpha 2
ISO
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9
OMIM ClinVar
PMID:25741868 PMID:30013181
NCBI chr 4:109,294,249...110,443,409
Ensembl chr 4:109,293,978...110,443,522
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LRRTM1
leucine rich repeat transmembrane neuronal 1
ISO
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9
ClinVar
NCBI chr 4:109,701,815...109,718,924
Ensembl chr 4:109,701,815...109,717,184
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Fkrp
fukutin related protein
ISO
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement
ClinVar
PMID:25741868
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn
fukutin
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...
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Gmppb
GDP-mannose pyrophosphorylase B
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...
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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Ankmy2
ankyrin repeat and MYND domain containing 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ClinVar
PMID:23288328 PMID:28492532
NCBI chr 6:52,888,959...52,930,343
Ensembl chr 6:52,888,963...52,930,394
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Bzw2
basic leucine zipper and W2 domains 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ClinVar
PMID:23288328 PMID:28492532
NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628
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Crppa
CDP-L-ribitol pyrophosphorylase A
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...
NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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Lrrc72
leucine rich repeat containing 72
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ClinVar
PMID:23288328 PMID:28492532
NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540
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Sostdc1
sclerostin domain containing 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ClinVar
PMID:23288328 PMID:28492532
NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579
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Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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...
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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Tspan1
tetraspanin 1
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...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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B4gat1
beta-1,4-glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar
PMID:23877401 PMID:25558065
NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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Dag1
dystroglycan 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Fkrp
fukutin related protein
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...
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn
fukutin
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...
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Pomt1
protein-O-mannosyltransferase 1
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...
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Pomt2
protein-O-mannosyltransferase 2
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...
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Rxylt1
ribitol xylosyltransferase 1
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:28492532 PMID:30017359 PMID:31742715 More...
NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
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...
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Tbce
tubulin folding cofactor E
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
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Fnta
farnesyltransferase, CAAX box, alpha
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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Hgsnat
heparan-alpha-glucosaminide N-acetyltransferase
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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Hook3
hook microtubule-tethering protein 3
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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Pomk
protein-O-mannose kinase
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...
NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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Rnf170
ring finger protein 170
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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Thap1
THAP domain containing 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
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B4gat1
beta-1,4-glucuronyltransferase 1
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...
NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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Bbs1
Bardet-Biedl syndrome 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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Brms1
BRMS1, transcriptional repressor and anoikis regulator
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
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Dpp3
dipeptidylpeptidase 3
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541
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mrpl11
mitochondrial ribosomal protein L11
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
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Npas4
neuronal PAS domain protein 4
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
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Peli3
pellino E3 ubiquitin protein ligase family member 3
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
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Rin1
Ras and Rab interactor 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
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Slc29a2
solute carrier family 29 member 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
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Pomt2
protein-O-mannosyltransferase 2
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...
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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...
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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Tspan1
tetraspanin 1
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...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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Fkrp
fukutin related protein
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...
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Strn4
striatin 4
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
ClinVar
PMID:25741868
NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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Large1
LARGE xylosyl- and glucuronyltransferase 1
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...
NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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Abhd5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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Ackr2
atypical chemokine receptor 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,559,563...121,573,633
Ensembl chr 8:121,561,211...121,573,582
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Ano10
anoctamin 10
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Ccdc13
coiled-coil domain containing 13
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,455,202...121,507,487
Ensembl chr 8:121,457,697...121,502,337
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Cck
cholecystokinin
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cyp8b1
cytochrome P450 family 8 subfamily B member 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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Gask1a
golgi associated kinase 1A
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,610,779...121,643,742
Ensembl chr 8:121,610,787...121,642,942
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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
NCBI chr 8:121,447,001...121,454,070
Ensembl chr 8:121,447,002...121,454,001
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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
NCBI chr 8:121,514,152...121,523,382
Ensembl chr 8:121,514,156...121,523,443
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Klhl40
kelch-like family member 40
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,441,285...121,446,801
Ensembl chr 8:121,441,287...121,446,800
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Krbox1
KRAB box domain containing 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,597,254...121,604,048
Ensembl chr 8:121,597,319...121,604,027
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Lyzl4
lysozyme-like 4
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,248,129...121,255,366
Ensembl chr 8:121,248,168...121,255,353
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Nktr
natural killer cell triggering receptor
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,380,010...121,420,495
Ensembl chr 8:121,382,436...121,418,314
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Pomgnt2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
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...
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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Sec22c
SEC22 homolog C, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,345,839...121,371,509
Ensembl chr 8:121,350,107...121,370,925
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Snrk
SNF related kinase
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,779,704...121,833,949
Ensembl chr 8:121,793,302...121,832,323
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Ss18l2
SS18 like 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,375,263...121,377,877
Ensembl chr 8:121,375,308...121,377,877
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Trak1
trafficking kinesin protein 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367
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Ulk4
unc-51 like kinase 4
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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Vipr1
vasoactive intestinal peptide receptor 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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Zbtb47
zinc finger and BTB domain containing 47
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,420,758...121,434,365
Ensembl chr 8:121,423,696...121,433,225
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Dag1
dystroglycan 1
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...
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Manf
mesencephalic astrocyte-derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome
OMIM ClinVar
PMID:26077850 PMID:33500254
NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
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Pcdh12
protocadherin 12
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...
NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
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Rnf14
ring finger protein 14
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...
NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
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Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Faundes-Banka syndrome
OMIM ClinVar
PMID:25741868 PMID:33547280
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism 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
CTD ClinVar
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 PMID:20301770 PMID:21224895 PMID:21532573 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 More...
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: MYCN-related condition
OMIM ClinVar
PMID:25741868 PMID:30573562
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
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...
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Ckap2l
cytoskeleton associated protein 2-like
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Filippi syndrome
OMIM CTD ClinVar
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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Bmp4
bone morphogenetic protein 4
ISO
protein:decreased expression, altered localization:cerebral cortex:
RGD
PMID:22752548
RGD:9068443
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:cerebral cortex
RGD
PMID:22459050
RGD:8547829
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Focal cortical dysplasia type 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Tsc1
TSC complex subunit 1
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 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...
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism 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
CTD ClinVar OMIM
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: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...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Dag1
dystroglycan 1
ISO
protein:decreased expression:brain, heart, skeletal muscle
RGD
PMID:11445638
RGD:11537476
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Fkrp
fukutin related protein
ISO
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar
PMID:25741868
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn
fukutin
ISO ISS
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:253800
OMIM ClinVar MouseDO RGD
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 PMID:11445638 More...
RGD:11537476
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Gon7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:31481669
NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
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Lage3
L antigen family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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Osgep
O-sialoglycoprotein endopeptidase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Galloway-Mowat syndrome
CTD ClinVar
PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828
NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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Tp53rka
Tp53 tumor protein p53 regulating kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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Tprkb
Tp53rk binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
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Wdr4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:30079490
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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Wdr73
WD repeat domain 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25466283
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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Zfp592
zinc finger protein 592
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20531441
NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
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Eng
endoglin
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...
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Wdr73
WD repeat domain 73
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...
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727
NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
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C5h1orf122
similar to human chromosome 1 open reading frame 122
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
ClinVar
PMID:31481669
NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929
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Yrdc
yrdC N(6)-threonylcarbamoyltransferase domain containing
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
OMIM ClinVar
PMID:31481669 PMID:34545459
NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120
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Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked
OMIM ClinVar
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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Osgep
O-sialoglycoprotein endopeptidase
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...
NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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Tp53rka
Tp53 tumor protein p53 regulating kinase A
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362
NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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Tprkb
Tp53rk binding protein
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259
NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
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Wdr4
WD repeat domain 4
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...
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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Nup107
nucleoporin 107
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...
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Nup133
nucleoporin 133
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8
OMIM ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554
NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
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Gon7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 9
OMIM ClinVar
PMID:25741868 PMID:31481669
NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
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Foxp1
forkhead box P1
ISO
protein:altered expression:neocortex (human)
RGD
PMID:22759905
RGD:11560525
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Hemimegalencephaly
ClinVar
PMID:25741868
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Unilateral Megalencephaly
ClinVar
PMID:24631838 PMID:25799227 PMID:26619011 PMID:28864461 PMID:29281825
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Unilateral Megalencephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Hemimegalencephaly
ClinVar
PMID:25741868
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rheb
Ras homolog, mTORC1 binding
ISO
ClinVar Annotator: match by term: Hemimegalencephaly
ClinVar
PMID:30414531
NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160
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Rps6
ribosomal protein S6
ISO
ClinVar Annotator: match by term: Hemimegalencephaly
ClinVar
NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602 Ensembl chr 5:101,371,136...101,374,602
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Dnmt3a
DNA methyltransferase 3 alpha
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...
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Ap4b1
adaptor related protein complex 4 subunit beta 1
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328
NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Dkc1
dyskerin pseudouridine synthase 1
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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Rtel1
regulator of telomere elongation helicase 1
ISO
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)
RGD
PMID:23959892
RGD:152977765
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
CTD ClinVar
PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Med17
mediator complex subunit 17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
OMIM CTD ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 PMID:28492532 PMID:30345598 PMID:30919572 More...
NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
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Pus7
pseudouridine synthase 7
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
NCBI chr 4:11,360,169...11,401,139
Ensembl chr 4:11,360,188...11,401,172
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Chd8
chromodomain helicase DNA binding protein 8
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...
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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Snord8
small nucleolar RNA, C/D box 8
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly
ClinVar
PMID:25741868
NCBI chr15:24,917,836...24,917,945
Ensembl chr15:24,917,836...24,917,945
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Phf21a
PHD finger protein 21A
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
NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
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Ntng2
netrin G2
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay
ClinVar
PMID:25741868
NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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Pak1
p21 (RAC1) activated kinase 1
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...
NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
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Esco2
establishment of sister chromatid cohesion N-acetyltransferase 2
ISO
ClinVar Annotator: match by term: Juberg-Hayward syndrome
OMIM ClinVar
PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 PMID:32977150 More...
NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
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Flna
filamin A
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...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Ube3b
ubiquitin protein ligase E3B
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:244450 ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type
CTD MouseDO ClinVar OMIM
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 PMID:28492532 PMID:30792901 More...
NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Hspg2
heparan sulfate proteoglycan 2
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...
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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Dll3
delta like canonical Notch ligand 3
ISO
ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia
OMIM CTD ClinVar
PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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Cox7b
cytochrome c oxidase subunit 7B
ISO
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532
NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Arx
aristaless related homeobox
ISS
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
MouseDO
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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Aspm
assembly factor for spindle microtubules
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Cenpj
centromere protein J
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...
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Cep85l
centrosomal protein 85-like
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
NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Ctnna2
catenin alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30013181
NCBI chr 4:109,294,249...110,443,409
Ensembl chr 4:109,293,978...110,443,522
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Dag1
dystroglycan 1
ISS
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
MouseDO
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dcx
doublecortin
ISS ISO
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 ClinVar Annotator: match by term: Lissencephaly
MouseDO ClinVar
PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 PMID:28492532 PMID:29671837 More...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
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...
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Kif21b
kinesin family member 21B
ISO
ClinVar Annotator: match by term: Pachygyria
ClinVar
PMID:25741868
NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127
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Lamb1
laminin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:25741868 PMID:30471716
NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Mir484
microRNA 484
ISO
ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar
NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760
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Myh11
myosin heavy chain 11
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...
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nbn
nibrin
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...
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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Nde1
nudE neurodevelopment protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
CTD ClinVar
PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28166811 PMID:28492532 PMID:28679693 PMID:30122538 PMID:31664448 More...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
severity
ISO ISS
DNA:mutations:: ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD RGD
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 PMID:11115846 More...
RGD:11073221
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ISO
DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple
RGD
PMID:17559086
RGD:11065022
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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Pomt1
protein-O-mannosyltransferase 1
ISO
DNA:insertions, deletions, missense mutations: :multiple
RGD
PMID:17559086
RGD:11065022
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Pomt2
protein-O-mannosyltransferase 2
ISO
DNA:missense mutation:exonp.G726R (c.2176G>A) (human)
RGD
PMID:17559086
RGD:11065022
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Reln
reelin
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
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Tmtc3
transmembrane O-mannosyltransferase targeting cadherins 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
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Tuba1a
tubulin, alpha 1A
ISO ISS
DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human) ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
ClinVar MouseDO RGD
PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:22408144 PMID:24510153 PMID:24860126 PMID:25741868 PMID:26350204 PMID:26663670 PMID:28492532 PMID:29671837 PMID:30517687 PMID:30744660 PMID:17584854 More...
RGD:12859083
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tuba3a
tubulin, alpha 3A
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:25558065
NCBI chr 4:158,075,083...158,083,972
Ensembl chr 4:158,075,083...158,083,972
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Tubb2b
tubulin, beta 2B class IIb
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:11425694 PMID:23001566 PMID:25741868 PMID:29671837
NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638
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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:29671837
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Tubb5
tubulin, beta 5 class I
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:25741868 PMID:29671837 PMID:29706646
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Tubg1
tubulin, gamma 1
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189
NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433
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Dcx
doublecortin
ISO
ClinVar Annotator: match by term: Subcortical band heterotopia
ClinVar
PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Lamb1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Classic lissencephaly
ClinVar
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
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...
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Cep85l
centrosomal protein 85-like
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...
NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Pln
phospholamban
ISO
ClinVar Annotator: match by term: Lissencephaly 10
ClinVar
PMID:18241046 PMID:24033266 PMID:28492532
NCBI chr20:32,629,537...32,639,559
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Aipl1
aryl hydrocarbon receptor-interacting protein-like 1
ISO
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation
ClinVar
PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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Emd
emerin
ISO
ClinVar Annotator: match by term: Tubulinopathies
ClinVar
PMID:9536090 PMID:10382910 PMID:21697856 PMID:24365856 PMID:24375709 PMID:25210889 PMID:25741868 PMID:28492532 PMID:31645980 More...
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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Nkx2-5
NK2 homeobox 5
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...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:21403111 PMID:22408144 PMID:22495306 PMID:22948023 PMID:23317684 PMID:24088041 PMID:24510153 PMID:24860126 PMID:25059107 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25666757 PMID:25741868 PMID:26130693 PMID:26350204 PMID:26467025 PMID:26633545 PMID:26663670 PMID:27431206 PMID:28407358 PMID:28492532 PMID:28677066 PMID:28973083 PMID:29158550 PMID:29671837 PMID:29706646 PMID:29758562 PMID:30087272 PMID:30517687 PMID:30744660 PMID:31474318 PMID:31628766 PMID:31696992 PMID:31833200 PMID:32581362 PMID:32989326 PMID:33077954 PMID:33604570 PMID:34246755 PMID:34906502 More...
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Mir484
microRNA 484
ISO
ClinVar Annotator: match by term: Lissencephaly 4
ClinVar
NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760
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Myh11
myosin heavy chain 11
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
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nde1
nudE neurodevelopment protein 1
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...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Dld
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: Lissencephaly 5
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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Lamb1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Lissencephaly 5
OMIM ClinVar
PMID:16199547 PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 PMID:28492532 More...
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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Katnb1
katanin regulatory subunit B1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly
OMIM CTD ClinVar
PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532
NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
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Cdk5
cyclin-dependent kinase 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM CTD ClinVar
PMID:25560765
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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Tmtc3
transmembrane O-mannosyltransferase targeting cadherins 3
ISO
ClinVar Annotator: match by term: Lissencephaly 8
OMIM ClinVar
PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161
NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
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Macf1
microtubule-actin crosslinking factor 1
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
NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Dcx
doublecortin
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...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Clasp1
cytoplasmic linker associated protein 1
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...
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Kif9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Luscan-Lumish syndrome
ClinVar
PMID:28492532
NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252
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Klhl18
kelch-like family member 18
ISO
ClinVar Annotator: match by term: Luscan-Lumish syndrome
ClinVar
PMID:28492532
NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323
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Ptpn23
protein tyrosine phosphatase, non-receptor type 23
ISO
ClinVar Annotator: match by term: Luscan-Lumish syndrome
ClinVar
PMID:28492532
NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome
OMIM CTD 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...
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Abcc8
ATP binding cassette subfamily C member 8
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...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abcc9
ATP binding cassette subfamily C member 9
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...
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Akt3
AKT serine/threonine kinase 3
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...
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Ccnd2
cyclin D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29642246
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Chd8
chromodomain helicase DNA binding protein 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly
CTD ClinVar
PMID:24998929 PMID:25741868 PMID:30670789 PMID:32267004
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:24033266 PMID:28492532
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25558065
NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
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Fibp
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:26660953
NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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Foxo4
forkhead box O4
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Gsk3a
glycogen synthase kinase 3 alpha
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868
NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
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Map1b
microtubule-associated protein 1B
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868
NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
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Mefv
MEFV innate immunity regulator, pyrin
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...
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Morc4
MORC family CW-type zinc finger 4
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868
NCBI chr X:103,477,366...103,529,026
Ensembl chr X:103,480,603...103,528,956
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Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:28492532 PMID:33077954 PMID:34197453
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome
ClinVar
PMID:25741868 PMID:30573562
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nfia
nuclear factor I/A
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885
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Nfib
nuclear factor I/B
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868 PMID:30388402
NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Megalencephaly, autosomal dominant
ClinVar
PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Pten
phosphatase and tensin homolog
ISO
DNA:missense mutation:cds:p.M134I (human) ClinVar Annotator: match by term: Macrocephaly
ClinVar RGD
PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532 PMID:23124040
RGD:12859034
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rab5if
RAB5 interacting factor
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:24194475 PMID:35614220
NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012
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Slc25a22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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Tbc1d7
TBC1 domain family, member 7
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
NCBI chr17:21,530,709...21,548,556
Ensembl chr17:21,531,016...21,548,553
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Trit1
tRNA isopentenyltransferase 1
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868 PMID:30977854
NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764
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Usp7
ubiquitin specific peptidase 7
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868
NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
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Wdfy3
WD repeat and FYVE domain containing 3
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
PMID:25741868 PMID:31327001
NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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Zfp526
zinc finger protein 526
ISO
ClinVar Annotator: match by term: Macrocephaly
ClinVar
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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Kif7
kinesin family member 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
OMIM CTD ClinVar
PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Nfib
nuclear factor I/B
ISO
ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30388402
NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479
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Rin2
Ras and Rab interactor 2
ISO
CTD Direct Evidence: marker/mechanism 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 CTD ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 PMID:27277385 PMID:28492532 PMID:30769224 More...
NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
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Erc1
ELKS/RAB6-interacting/CAST family member 1
ISO
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation
ClinVar
PMID:25741868
NCBI chr 4:152,763,664...153,055,724
Ensembl chr 4:152,767,419...153,055,639
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Herc1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation
OMIM CTD ClinVar
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 PMID:32921582 PMID:33526774 More...
NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
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Zbtb7a
zinc finger and BTB domain containing 7a
ISO
ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
OMIM ClinVar
PMID:25741868 PMID:31645653 PMID:34515416
NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539
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Klln
killin, p53-regulated DNA replication inhibitor
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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Pten
phosphatase and tensin homolog
ISO ISS
DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human) ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome OMIM:605309 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD RGD
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:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 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 PMID:15805158 More...
RGD:12832751
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Tbc1d7
TBC1 domain family, member 7
ISO
ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive
ClinVar
PMID:23687350 PMID:24515783 PMID:25741868 PMID:28492532
NCBI chr17:21,530,709...21,548,556
Ensembl chr17:21,531,016...21,548,553
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Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
OMIM ClinVar CTD RGD
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 PMID:22305528 More...
RGD:10045557
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome
ClinVar
PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
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...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Vascular Malformations and Overgrowth
ClinVar
PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 PMID:34040190
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
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...
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION
ClinVar
PMID:24469055 PMID:25741868 PMID:28492532
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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Herc1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
ISO
ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability
ClinVar
PMID:26153217 PMID:27108999
NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
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Akt3
AKT serine/threonine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22729224
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Ccnd2
cyclin D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705253 PMID:29642246
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22729224
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
CTD 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...
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Armc6
armadillo repeat containing 6
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,191,093...19,206,047
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Arrdc2
arrestin domain containing 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,601,897...18,606,029
Ensembl chr16:18,601,897...18,606,029
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Borcs8
BLOC-1 related complex subunit 8
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339
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Ccdc124
coiled-coil domain containing 124
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,566,745...18,572,564
Ensembl chr16:18,566,745...18,572,564
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Comp
cartilage oligomeric matrix protein
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Cope
COPI coat complex subunit epsilon
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,114,871...19,125,076
Ensembl chr16:19,114,871...19,128,907
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Crlf1
cytokine receptor-like factor 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Crtc1
CREB regulated transcription coactivator 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381
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Ddx49
DEAD-box helicase 49
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,125,384...19,133,616
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Ell
elongation factor for RNA polymerase II
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,843,775...18,891,484
Ensembl chr16:18,843,780...18,891,118
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Fkbp8
FKBP prolyl isomerase 8
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Gdf15
growth differentiation factor 15
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
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Homer3
homer scaffold protein 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680
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Ifi30
IFI30, lysosomal thiol reductase
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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Insl3
insulin-like 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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Iqcn
IQ motif containing N
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,716,519...18,733,971
Ensembl chr16:18,716,519...18,726,261
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Isyna1
inositol-3-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jund
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
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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 chr16:18,574,858...18,598,585
Ensembl chr16:18,585,992...18,597,482
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Klhl26
kelch-like family member 26
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,952,123...18,977,328
Ensembl chr16:18,952,234...18,977,328
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Kxd1
KxDL motif containing 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
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Lrrc25
leucine rich repeat containing 25
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,806,888...18,813,723
Ensembl chr16:18,806,890...18,813,671
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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 chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926
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Mast3
microtubule associated serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852
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Mef2b
myocyte enhancer factor 2B
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967
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Mpv17l2
MPV17 mitochondrial inner membrane protein like 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,680,106...18,684,212
Ensembl chr16:18,681,826...18,684,212
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
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Pde4c
phosphodiesterase 4C
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,690,727...18,711,555
Ensembl chr16:18,691,700...18,710,640
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Pgpep1
pyroglutamyl-peptidase I
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,770,563...18,782,968
Ensembl chr16:18,771,021...18,783,478
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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...
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Rab3a
RAB3A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336
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Rex1bd
required for excision 1-B domain containing
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,922,050...18,924,521
Ensembl chr16:18,922,037...18,924,526
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
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Rpl18a
ribosomal protein L18A
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546
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Slc25a42
solute carrier family 25, member 42
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025
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Slc5a5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Ssbp4
single stranded DNA binding protein 4
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,828,014...18,838,941
Ensembl chr16:18,828,054...18,838,947
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Sugp2
SURP and G patch domain containing 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,164,767...19,191,340
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Tmem161a
transmembrane protein 161A
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,238,487...19,248,087
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Tmem59l
transmembrane protein 59-like
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,941,370...18,945,381
Ensembl chr16:18,941,567...18,945,381
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Uba52
ubiquitin A-52 residue ribosomal protein fusion product 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807
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Upf1
UPF1, RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568
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Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:25741868
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Akt3
AKT serine/threonine kinase 3
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...
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Cep170
centrosomal protein 170
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ClinVar
PMID:25087610
NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ClinVar
PMID:25087610
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ClinVar
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Spmip3
sperm microtubule inner protein 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ClinVar
PMID:25087610
NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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Zbtb18
zinc finger and BTB domain containing 18
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ClinVar
PMID:25087610
NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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Ccnd2
cyclin D2
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...
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Eif2s3
eukaryotic translation initiation factor 2 subunit gamma
ISO
ClinVar Annotator: match by term: MEHMO syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140
NCBI chr X:58,916,513...58,939,923
Ensembl chr X:58,917,490...58,940,686
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Pcnt
pericentrin
ISO
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism
ClinVar
PMID:18414213 PMID:28492532
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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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...
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Pcnt
pericentrin
ISO ISS
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM:210720 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human) DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)
OMIM ClinVar MouseDO CTD RGD
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 PMID:18157127 PMID:19643772 PMID:18174396 PMID:21567919 More...
RGD:11537403 , RGD:11537402 , RGD:11537401 , RGD:11537400
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Aaas
aladin WD repeat nucleoporin
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:33223528
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Acadsb
acyl-CoA dehydrogenase, short/branched chain
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
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Ace
angiotensin I converting enzyme
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Adarb1
adenosine deaminase, RNA-specific, B1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
G
Adat3
adenosine deaminase, tRNA-specific 3
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340
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Add3
adducin 3
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
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Adgrl2
adhesion G protein-coupled receptor L2
ISO
RGD
PMID:30340542
RGD:13838661
NCBI chr 2:237,696,055...238,327,141
Ensembl chr 2:237,696,056...238,327,141
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Adnp
activity-dependent neuroprotector homeobox
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
G
Agt
angiotensinogen
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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...
NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
G
Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Progressive microcephaly
ClinVar
PMID:25741868
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Alpl
alkaline phosphatase, biomineralization associated
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...
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Ampd2
adenosine monophosphate deaminase 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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Ank1
ankyrin 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
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Ankle2
ankyrin repeat and LEM domain containing 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:23806086 PMID:24088041 PMID:25259927
NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514
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Ap3b2
adaptor related protein complex 3 subunit beta 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
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
NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Arcn1
archain 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
G
Arfgef2
ADP ribosylation factor guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
G
Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
G
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
G
Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
G
Asf1a
anti-silencing function 1A histone chaperone
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808
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Aspm
assembly factor for spindle microtubules
susceptibility treatment
ISO ISS
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 DNA:mutations:multiple:
ClinVar MouseDO RGD
PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 PMID:25741868 PMID:26539891 PMID:28492532 PMID:30842647 PMID:16141009 PMID:20823249 PMID:20823249 PMID:19808985 More...
RGD:1599300 , RGD:13439744 , RGD:13439744 , RGD:13439741
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Asxl1
ASXL transcriptional regulator 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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...
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atpaf2
ATP synthase mitochondrial F1 complex assembly factor 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
G
Atr
ATR serine/threonine kinase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
G
Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
G
Bcap31
B-cell receptor-associated protein 31
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
G
Bcl11b
BCL11 transcription factor B
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
G
Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
G
Blm
BLM RecQ like helicase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32566746
NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
G
Bptf
bromodomain PHD finger transcription factor
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
G
Brd4
bromodomain containing 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
G
Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD ClinVar
PMID:15475955 PMID:25741868 PMID:28492532
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
G
Calhm4
calcium homeostasis modulator family member 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173
G
Calhm5
calcium homeostasis modulator family member 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272
G
Calhm6
calcium homeostasis modulator family member 6
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278
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...
NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
G
Cars2
cysteinyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
G
Cask
calcium/calmodulin dependent serine protein kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19165920
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
G
Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
G
Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
G
Ccdc88a
coiled coil domain containing 88A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368
G
Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cdc6
cell division cycle 6
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
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Cdk19
cyclin-dependent kinase 19
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr20:43,770,409...43,910,629
Ensembl chr20:43,770,409...43,910,628
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Cdk5rap2
CDK5 regulatory subunit associated protein 2
ISO ISS
DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
ClinVar MouseDO RGD
PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 PMID:26436113 More...
RGD:13450906
NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
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Cdon
cell adhesion associated, oncogene regulated
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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Cenpf
centromere protein F
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Cep152
centrosomal protein 152
ISO
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar
NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cep63
centrosomal protein 63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21983783
NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
G
Cep85l
centrosomal protein 85-like
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Cert1
ceramide transporter 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074
G
Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:33473208
NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
G
Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Chka
choline kinase alpha
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:35202461
NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
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Cit
citron rho-interacting serine/threonine kinase
IAGP
RGD
PMID:10219263
RGD:13204836
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
G
CitfhJjlo
citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo
IAGP
RGD
PMID:10219263
RGD:13204836
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Clasp1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Clcn4
chloride voltage-gated channel 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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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...
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
G
Copb2
COPI coat complex subunit beta 2
ISS
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
MouseDO
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Cpt2
carnitine palmitoyltransferase 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
G
Cspp1
centrosome and spindle pole associated protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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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...
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
G
Ctbp1
C-terminal binding protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
G
Dcbld1
discoidin, CUB and LCCL domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692
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Ddx11
DEAD/H-box helicase 11
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 9:105,833,234...105,862,844
Ensembl chr 9:105,833,504...105,862,550
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...
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
G
Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532
NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
G
Dnm1l
dynamin 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17460227
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30478443
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
G
Donson
DNA replication fork stabilization factor DONSON
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28191891
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
G
Dse
dermatan sulfate epimerase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
G
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23603762
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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...
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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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 chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
G
Eif2b1
eukaryotic translation initiation factor 2B subunit alpha
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
G
Elac2
elaC ribonuclease Z 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
G
Emc1
ER membrane protein complex subunit 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
G
Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
Epg5
ectopic P-granules 5 autophagy tethering factor
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:28767289
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10739753 PMID:18628313
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
G
Ext1
exostosin glycosyltransferase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
G
Fam111a
FAM111 trypsin like peptidase A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
G
Fam184a
family with sequence similarity 184, member A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:32,934,424...33,056,626
Ensembl chr20:32,934,636...33,056,652
G
Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
G
Fance
FA complementation group E
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
G
Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
G
Fgfrl1
fibroblast growth factor receptor-like 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
G
Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
G
Foxg1
forkhead box G1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD ClinVar
PMID:18627055 PMID:25741868
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
G
Fras1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
G
Frem1
Fras1 related extracellular matrix 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
G
Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
G
Frmd4a
FERM domain containing 4A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
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...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
G
Gatad1
GATA zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
G
Gemin4
gem (nuclear organelle) associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25558065 PMID:25741868 PMID:27878435
NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 Ensembl chr10:61,066,425...61,073,431
G
Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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...
NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
G
Gopc
golgi associated PDZ and coiled-coil motif containing
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903
G
Gprc6a
G protein-coupled receptor, class C, group 6, member A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
G
Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
G
Grip1
glutamate receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
G
H4c3
H4 clustered histone 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28920961
G
Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
G
Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Progressive microcephaly
ClinVar
PMID:25741868
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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...
NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
G
Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Iba57
iron-sulfur cluster assembly factor IBA57
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
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Ift122
intraflagellar transport 122
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Ift140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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Ift74
intraflagellar transport 74
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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Igf1
insulin-like growth factor 1
ISO
DNA:nonsense mutation,haploinsufficiency :cds: ClinVar Annotator: match by term: Microcephaly
ClinVar RGD
PMID:25741868 PMID:20668042
RGD:8548823
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Iqsec2
IQ motif and Sec7 domain ArfGEF 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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Itgb6
integrin subunit beta 6
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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Jarid2
jumonji and AT-rich interaction domain containing 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690
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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:34798354 More...
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kif11
kinesin family member 11
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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Kif1c
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
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Kif20b
kinesin family member 20B
ISS
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
MouseDO
NCBI chr 1:232,428,293...232,483,798
Ensembl chr 1:232,428,371...232,483,787
G
Kif23
kinesin family member 23
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:26539891
NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072
G
Kif26b
kinesin family member 26B
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
NCBI chr13:90,282,821...90,689,058
Ensembl chr13:90,283,404...90,682,811
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Kif2a
kinesin family member 2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD ClinVar
PMID:23603762 PMID:25741868 PMID:28492532
NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508
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Kif5c
kinesin family member 5C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23603762
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Kifbp
kinesin family binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15883926
NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
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Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Knl1
kinetochore scaffold 1
ISO
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
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Kpna5
karyopherin subunit alpha 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078
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Lars1
leucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931
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Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:30905398
NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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Lins1
lines homolog 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
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Lmnb1
lamin B1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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Lrp5
LDL receptor related protein 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Mak16
MAK16 homolog
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr16:60,972,699...60,981,250
Ensembl chr16:60,972,697...60,983,243
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Man1a1
mannosidase, alpha, class 1A, member 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:33,202,509...33,385,747
Ensembl chr20:33,202,517...33,385,824
G
Masp1
MBL associated serine protease 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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Mbd5
methyl-CpG binding domain protein 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
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Mcm4
minichromosome maintenance complex component 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144
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Mcm9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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Mcph1
microcephalin 1
no_association
ISO ISS
DNA:nonsense mutation:cds:p.S25X (human) ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 DNA:SNP: :c.940G>C (g.37995G>C) (human)
ClinVar MouseDO RGD
PMID:25741868 PMID:12046007 PMID:23683352 PMID:19267414
RGD:9589021 , RGD:13204745 , RGD:13204744
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
G
Mecp2
methyl CpG binding protein 2
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...
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Med17
mediator complex subunit 17
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
G
Mefv
MEFV innate immunity regulator, pyrin
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...
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
G
Mfn2
mitofusin 2
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...
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mfsd2a
MFSD2 lysolipid transporter A, lysophospholipid
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD ClinVar
PMID:25741868 PMID:26005865 PMID:26005868
NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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Mipep
mitochondrial intermediate peptidase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
G
Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Mtfmt
mitochondrial methionyl-tRNA formyltransferase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
G
Nacc1
nucleus accumbens associated 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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Nat8l
N-acetyltransferase 8-like
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
G
Nbn
nibrin
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...
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
G
Nepro
nucleolus and neural progenitor protein
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:30308447
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Npas4
neuronal PAS domain protein 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
G
Nsd1
nuclear receptor binding SET domain protein 1
ISO
associated with Growth Disorders;DNA:duplications:multiple (human) ClinVar Annotator: match by term: Microcephaly
ClinVar RGD
PMID:25741868 PMID:23599694
RGD:9590157
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
G
Nsrp1
nuclear speckle splicing regulatory protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:34385670
NCBI chr10:61,880,807...61,914,471
Ensembl chr10:61,880,825...61,914,471
G
Nt5c2
5'-nucleotidase, cytosolic II
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
G
Nup188
nucleoporin 188
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:32275884
NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
G
Nup214
nucleoporin 214
ISO
ClinVar Annotator: match by term: Progressive microcephaly
ClinVar
PMID:25741868 PMID:31178128
NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
G
Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130 PMID:25741868
NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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Orc1
origin recognition complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358633
NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
G
Otx2
orthodenticle homeobox 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:19965921 PMID:25741868 PMID:28492532
NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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Pak3
p21 (RAC1) activated kinase 3
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314
G
Pclo
piccolo (presynaptic cytomatrix protein)
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
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Pcnt
pericentrin
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
G
Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
G
Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
G
Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
G
Pex16
peroxisomal biogenesis factor 16
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
G
Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
G
Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
G
Plk4
polo-like kinase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD ClinVar
PMID:25344692 PMID:25741868
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
G
Pln
phospholamban
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:32,629,537...32,639,559
G
Pnkp
polynucleotide kinase 3'-phosphatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20118933
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
G
Poc1a
POC1 centriolar protein A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Polk
DNA polymerase kappa
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313
G
Ppil1
peptidylprolyl isomerase like 1
ISS
MouseDO
NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354
G
Pqbp1
polyglutamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14634649 PMID:15024694 PMID:16740914
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Prdm16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Psat1
phosphoserine aminotransferase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Ptdss1
phosphatidylserine synthase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:63,845,017...63,906,791
Ensembl chr 7:63,844,268...63,906,791
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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...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Pycr1
pyrroline-5-carboxylate reductase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532
NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
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Pycr2
pyrroline-5-carboxylate reductase 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
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Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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Rab11a
RAB11a, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital microcephaly
ClinVar
PMID:25741868
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Rad51c
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:32566746 PMID:32980694 PMID:33309985
NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rbbp8
RB binding protein 8, endonuclease
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Rbm28
RNA binding motif protein 28
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 4:57,722,946...57,761,935
Ensembl chr 4:57,722,223...57,761,653
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Rfx6
regulatory factor X, 6
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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Rfx7
regulatory factor X, 7
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209
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Rnf17
ring finger protein 17
ISO
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar
NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Ros1
ROS proto-oncogene 1 , receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
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Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Rreb1
ras responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:26,876,687...27,002,554
Ensembl chr17:26,876,697...27,002,615
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Rttn
rotatin
ISO
ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:26608784 PMID:26846091 PMID:28492532
NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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Rwdd1
RWD domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193
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Sall1
spalt-like transcription factor 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Samd9l1
sterile alpha motif domain containing 9 like 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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Sbds
Sbds, ribosome maturation factor
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...
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Sbf1
SET binding factor 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:23749797 PMID:25741868 PMID:28492532
NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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Scamp4
secretory carrier membrane protein 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:14672992 PMID:17347258 PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn4a
sodium voltage-gated channel alpha subunit 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
G
Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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Scrib
scribble planar cell polarity protein
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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Sec24c
SEC24 homolog C, COPII coat complex component
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr15:3,602,460...3,624,524
Ensembl chr15:3,602,460...3,624,422
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Sim1
SIM bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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Sin3a
SIN3 transcription regulator family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27399968
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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Slc12a5
solute carrier family 12 member 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765
G
Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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Slc1a4
solute carrier family 1 member 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
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Slc25a19
solute carrier family 25 member 19
ISO
Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A
RGD
PMID:12185364
RGD:1624242
NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447
G
Slc2a1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD ClinVar
PMID:9462754 PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 PMID:25741868 PMID:26193382 PMID:26216499 PMID:28492532 PMID:32581362 More...
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Slc35f1
solute carrier family 35, member F1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
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Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
G
Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
G
Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
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...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Smc1a
structural maintenance of chromosomes 1A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:16604071 PMID:17273969 PMID:24124034 PMID:25125236 PMID:25741868 PMID:28425213 PMID:28492532 More...
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
G
Smo
smoothened, frizzled class receptor
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:33299146
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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Spock1
sparc/osteonectin, cwcv and kazal like domains proteoglycan 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr17:6,741,504...7,221,685
Ensembl chr17:6,742,273...7,224,935
G
Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
G
Sptlc1
serine palmitoyltransferase, long chain base subunit 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295
G
Srcap
Snf2-related CREBBP activator protein
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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Stambp
Stam binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23542699
NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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Stil
STIL, centriolar assembly protein
ISO
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar
NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
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Stt3a
STT3 oligosaccharyltransferase complex catalytic subunit A
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
G
Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
G
Svbp
small vasohibin binding protein
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:30607023 PMID:31363758
NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735
G
Taf2
TATA-box binding protein associated factor 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
G
Taf8
TATA-box binding protein associated factor 8
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:29648665 PMID:35759269
NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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Tat
tyrosine aminotransferase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
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Tbc1d32
TBC1 domain family, member 32
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
G
Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27666370 PMID:27666374
NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
G
Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tbl2
transducin (beta)-like 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896
G
Tbx2
T-box transcription factor 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
G
Tcf4
transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD ClinVar
PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29655203 PMID:29695756 PMID:32581362 More...
NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
G
Tcof1
treacle ribosome biogenesis factor 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
G
Tctn2
tectonic family member 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
G
Tecpr2
tectonin beta-propeller repeat containing 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
G
Telo2
telomere maintenance 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tfap2c
transcription factor AP-2 gamma
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 3:161,315,114...161,322,998
Ensembl chr 3:161,315,031...161,322,995
G
Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
G
Traip
TRAF-interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26595769
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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Trappc3l
trafficking protein particle complex subunit 3L
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989
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Trio
trio Rho guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:32581362
NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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Trps1
transcriptional repressor GATA binding 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
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Tsen2
tRNA splicing endonuclease subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215
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Tsen34
tRNA splicing endonuclease subunit 34
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412
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Tsen54
tRNA splicing endonuclease subunit 54
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly
CTD 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...
NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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Tti2
TELO2 interacting protein 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr16:60,980,665...60,988,587
Ensembl chr16:60,979,039...60,988,569
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Tuba1a
tubulin, alpha 1A
ISO
associated with Lissencephaly;DNA:missense mutations:cds:
RGD
PMID:18728072
RGD:11069114
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:31481326
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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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...
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Tubb5
tubulin, beta 5 class I
ISS
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
MouseDO
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Tubg1
tubulin, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23603762
NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433
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Tubgcp5
tubulin gamma complex component 5
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175
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Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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Ubr1
ubiquitin protein ligase E3 component n-recognin 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532 PMID:33473208
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Unc80
unc-80 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Vars1
valyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:30275004
NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298
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Vgll2
vestigial-like family member 2
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408
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Vldlr
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Vps33b
VPS33B, late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Vps53
VPS53 subunit of GARP complex
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676
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Wdfy3
WD repeat and FYVE domain containing 3
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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Wdr11
WD repeat domain 11
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:34413497
NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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Wdr62
WD repeat domain 62
ISO
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:20890278 PMID:20890279 PMID:24875059
RGD:11541053
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Wdr81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:32581362
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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Xirp1
xin actin-binding repeat containing 1
ISO
ClinVar Annotator: match by term: Classical primary microcephaly
ClinVar
PMID:25558065 PMID:25741868
NCBI chr 8:119,744,778...119,757,547
Ensembl chr 8:119,747,419...119,757,349
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Yme1l1
YME1-like 1 ATPase
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868
NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
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Zc4h2
zinc finger C4H2-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26056227
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Progressive microcephaly
ClinVar
PMID:26633546 PMID:34313816
NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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Zup1
zinc finger containing ubiquitin peptidase 1
ISO
ClinVar Annotator: match by term: Microcephaly
ClinVar
PMID:24824130
NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306
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Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability
ClinVar
PMID:25344692 PMID:25741868 PMID:28492532
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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Kif11
kinesin family member 11
ISO
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1
ClinVar
PMID:25741868
NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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Plk4
polo-like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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Tubgcp4
tubulin gamma complex component 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
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Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 PMID:25741868 PMID:28492532 PMID:31077665 PMID:36307859 More...
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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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...
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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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
NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
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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
NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
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Rbbp8
RB binding protein 8, endonuclease
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jawad syndrome
OMIM CTD ClinVar
PMID:18071751 PMID:21998596 PMID:24389050 PMID:25741868 PMID:27848944 PMID:28492532 PMID:32379725 More...
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Kif11
kinesin family member 11
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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Cdh4
cadherin 4
ISO
ClinVar Annotator: match by term: Simplified gyral pattern
ClinVar
PMID:29706646
NCBI chr 3:166,525,092...167,003,380
Ensembl chr 3:166,525,099...167,003,371
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Kcna4
potassium voltage-gated channel subfamily A member 4
ISO
ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
OMIM ClinVar
PMID:23181898 PMID:25741868 PMID:27582084
NCBI chr 3:93,756,399...93,778,004
Ensembl chr 3:93,756,446...93,769,162
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Msmo1
methylsterol monooxygenase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis
OMIM CTD ClinVar
PMID:21285510 PMID:24144731
NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
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Cars1
cysteinyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30824121
NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941
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Ark2c
arkadia C-terminal like ring finger ubiquitin ligase 2C
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836
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Ark2n
arkadia N-terminal like PKA signaling regulator 2N
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,155,956...71,243,655
Ensembl chr18:71,157,700...71,243,482
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Atp5f1a
ATP synthase F1 subunit alpha
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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Epg5
ectopic P-granules 5 autophagy tethering factor
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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Haus1
HAUS augmin-like complex, subunit 1
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660
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Hdhd2
haloacid dehalogenase-like hydrolase domain containing 2
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:70,488,315...70,526,471
Ensembl chr18:70,474,926...70,526,470
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Ier3ip1-ps1
immediate early response 3 interacting protein 1, pseudogene 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...
NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316
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Katnal2
katanin catalytic subunit A1 like 2
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082
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Loxhd1
lipoxygenase homology PLAT domains 1
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983
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Pias2
protein inhibitor of activated STAT, 2
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:70,608,034...70,714,295
Ensembl chr18:70,607,665...70,710,033
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Pstpip2
proline-serine-threonine phosphatase-interacting protein 2
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Siglec15
sialic acid binding Ig-like lectin 15
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,506,416...71,521,894
Ensembl chr18:71,505,399...71,521,881
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Skor2
SKI family transcriptional corepressor 2
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342
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Slc14a1
solute carrier family 14 member 1 (Kidd blood group)
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
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Slc14a2
solute carrier family 14 member 2
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968
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Smad2
SMAD family member 2
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
ClinVar
PMID:28492532
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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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 chr18:70,736,395...70,802,537
Ensembl chr18:70,736,602...70,797,789
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Ier3ip1-ps1
immediate early response 3 interacting protein 1, pseudogene 1
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 PMID:25741868 PMID:28492532 PMID:28711742 More...
NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316
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Yipf5
Yip1 domain family, member 5
ISO
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2
OMIM ClinVar
PMID:25741868 PMID:33164986
NCBI chr18:32,123,814...32,136,947
Ensembl chr18:32,123,842...32,157,642
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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...
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Wdr4
WD repeat domain 4
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
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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Top3a
DNA topoisomerase III alpha
ISO
ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30057030
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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Nusap1
nucleolar and spindle associated protein 1
ISO
ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
ClinVar
PMID:25741868
NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
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Pnkp
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Trmt10a
tRNA methyltransferase 10A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1
OMIM CTD ClinVar
PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532
NCBI chr 2:226,669,445...226,684,166
Ensembl chr 2:226,669,832...226,684,151
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Ppp1r15b
protein phosphatase 1, regulatory subunit 15B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2
OMIM CTD ClinVar
PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532
NCBI chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737
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Rttn
rotatin
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26846091 PMID:26940245 PMID:28492532 PMID:29883675 PMID:30121372 More...
NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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Stambp
Stam binding protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition
OMIM CTD ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 More...
NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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Donson
DNA replication fork stabilization factor DONSON
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...
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Nde1
nudE neurodevelopment protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydranencephaly and microcephaly
OMIM CTD ClinVar
PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 PMID:25741868 PMID:28492532 PMID:30637988 More...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Wdr81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: Microlissencephaly
ClinVar
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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Dph1
diphthamide biosynthesis 1
ISS
OMIM:247200
MouseDO
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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Hic1
HIC ZBTB transcriptional repressor 1
ISS
OMIM:247200
MouseDO
NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475
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Mnt
MAX network transcriptional repressor
ISS
OMIM:247200
MouseDO
NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
ISS
OMIM:247200
MouseDO
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Ywhae
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ISS
OMIM:247200
MouseDO
NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
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Slf2
SMC5-SMC6 complex localization factor 2
ISO
ClinVar Annotator: match by term: Atelis syndrome 1
OMIM ClinVar
PMID:36333305
NCBI chr 1:243,782,786...243,845,418
Ensembl chr 1:243,782,246...243,845,250
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Smc5
structural maintenance of chromosomes 5
ISO
ClinVar Annotator: match by term: Atelis syndrome 2
OMIM ClinVar
PMID:36333305
NCBI chr 1:220,769,366...220,839,138
Ensembl chr 1:220,769,366...220,839,096
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Adnp
activity-dependent neuroprotector homeobox
ISO
ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome
ClinVar
PMID:25741868
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Arhgap15
Rho GTPase activating protein 15
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265
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Gtdc1
glycosyltransferase-like domain containing 1
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
PMID:12920073
NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271
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Hnmt
histamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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Kynu
kynureninase
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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Lrp1b
LDL receptor related protein 1B
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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Nxph2
neurexophilin 2
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008
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Spopl
speckle type BTB/POZ protein like
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794
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Thsd7b
thrombospondin type 1 domain containing 7B
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501
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Zeb2
zinc finger E-box binding homeobox 2
ISO ISS
ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM:235730 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 PMID:11592033 PMID:11595972 PMID:11891681 PMID:12784289 PMID:12920073 PMID:15006694 PMID:15121779 PMID:15908750 PMID:16053902 PMID:16088920 PMID:16199547 PMID:16532472 PMID:16688751 PMID:17103451 PMID:17203459 PMID:17478475 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...
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Zeb2-as1
ZEB2 antisense RNA 1
ISO
ClinVar Annotator: match by term: Mowat-Wilson syndrome
ClinVar
PMID:12920073
NCBI chr 3:29,343,078...29,345,943
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Spop
speckle type BTB/POZ protein
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies
OMIM ClinVar
PMID:25741868 PMID:32109420
NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955
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Phgdh
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
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Psat1
phosphoserine aminotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Dtymk
deoxythymidylate kinase
ISO
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly
OMIM ClinVar
PMID:31271740 PMID:34918187 PMID:34926941
NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
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Svbp
small vasohibin binding protein
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
OMIM ClinVar
PMID:25741868 PMID:30607023 PMID:31363758
NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735
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Trappc4
trafficking protein particle complex subunit 4
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
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Adarb1
adenosine deaminase, RNA-specific, B1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
OMIM ClinVar
PMID:25741868 PMID:32220291 PMID:32719099
NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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Cpsf3
cleavage and polyadenylation specific factor 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
ClinVar
PMID:35121750
NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
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Tti1
TELO2 interacting protein 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities
OMIM ClinVar
PMID:26539891 PMID:36724785
NCBI chr 3:146,639,048...146,682,945
Ensembl chr 3:146,639,054...146,682,847
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Wars1
tryptophanyl-tRNA synthetase 1
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
NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269
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Dync1i2
dynein cytoplasmic 1 intermediate chain 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies
OMIM ClinVar
PMID:25741868 PMID:31079899
NCBI chr 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080
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Adgrg1
adhesion G protein-coupled receptor G1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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Asns
asparagine synthetase (glutamine-hydrolyzing)
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:25741868
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dcx
doublecortin
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...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Foxg1
forkhead box G1
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...
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
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...
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Kcnc1
potassium voltage-gated channel subfamily C member 1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:28492532
NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744
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Kif2a
kinesin family member 2A
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:28492532
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:26704558 PMID:28492532
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
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...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pnkp
polynucleotide kinase 3'-phosphatase
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...
NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Rnf113a1
ring finger protein 113A1
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:25741868 PMID:28492532 PMID:35701389
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smpd4
sphingomyelin phosphodiesterase 4
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
OMIM ClinVar
PMID:25741868 PMID:31495489
NCBI chr11:83,362,534...83,386,257
Ensembl chr11:83,362,534...83,386,250
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:25741868
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tubb2a
tubulin, beta 2A class IIa
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 PMID:29261186 PMID:30667171 PMID:32570172 PMID:32901917 More...
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Wdr62
WD repeat domain 62
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...
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Sars1
seryl-tRNA synthetase 1
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...
NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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Gemin4
gem (nuclear organelle) associated protein 4
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
OMIM ClinVar
PMID:25558065 PMID:25741868 PMID:27878435 PMID:30237576
NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 Ensembl chr10:61,066,425...61,073,431
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Dohh
deoxyhypusine hydroxylase
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
OMIM ClinVar
PMID:25741868 PMID:35858628
NCBI chr 7:8,321,466...8,326,305
Ensembl chr 7:8,321,466...8,326,289
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Tmx2
thioredoxin-related transmembrane protein 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
OMIM ClinVar
PMID:25741868 PMID:31586943 PMID:31735293
NCBI chr 3:69,754,937...69,762,587
Ensembl chr 3:69,754,939...69,762,587
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Mthfs
methenyltetrahydrofolate synthetase
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30031689
NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
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Psmb1
proteasome 20S subunit beta 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
ClinVar OMIM
PMID:32129449
NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560
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Dync1i2
dynein cytoplasmic 1 intermediate chain 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
ClinVar
PMID:25741868 PMID:31079899
NCBI chr 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080
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Prune1
prune exopolyphosphatase 1
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...
NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
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Nars1
asparaginyl-tRNA synthetase 1
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
NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622
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Nars1
asparaginyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32738225
NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622
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Exoc8
exocyst complex component 8
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32103185
NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
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Vps50
VPS50 subunit of EARP/GARPII complex
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
OMIM ClinVar
PMID:34037727
NCBI chr 4:31,484,424...31,585,617
Ensembl chr 4:31,484,463...31,585,617
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Hecw2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
ClinVar
PMID:23545411 PMID:25741868 PMID:27389779
NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
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Plaa
phospholipase A2, activating protein
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
NCBI chr 5:109,428,600...109,460,373
Ensembl chr 5:109,428,265...109,460,282
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Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
ClinVar
PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Ppfibp1
PPFIA binding protein 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
ClinVar OMIM
PMID:25741868 PMID:35830857
NCBI chr 4:179,807,579...179,951,428
Ensembl chr 4:179,808,794...179,951,428
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Rad50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
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Brwd3
bromodomain and WD repeat domain containing 3
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30628072 PMID:36414205 PMID:36937954 More...
NCBI chr X:73,768,343...73,861,643
Ensembl chr X:73,774,340...73,861,622
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Dnajc2
DnaJ heat shock protein family (Hsp40) member C2
ISO
ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532
NCBI chr 4:13,270,239...13,297,438
Ensembl chr 4:13,270,191...13,297,431
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Pmpcb
peptidase, mitochondrial processing subunit beta
ISO
ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532
NCBI chr 4:13,297,583...13,310,363
Ensembl chr 4:13,297,559...13,310,367
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Psmc2
proteasome 26S subunit, ATPase 2
ISO
ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532
NCBI chr 4:13,255,850...13,270,160
Ensembl chr 4:13,255,856...13,270,185
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Reln
reelin
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
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: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 PMID:28123028 More...
RGD:13207512
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Slc26a5
solute carrier family 26 member 5
ISO
ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar
PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532
NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
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Lamc3
laminin subunit gamma 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cortical malformations, occipital
OMIM CTD 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...
NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
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Tubgcp2
tubulin gamma complex component 2
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
NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
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Arfgef2
ADP ribosylation factor guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Periventricular laminar heterotopia
ClinVar
PMID:28492532
NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
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Abcd1
ATP binding cassette subfamily D member 1
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...
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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Arhgap4
Rho GTPase activating protein 4
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...
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
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...
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp6ap1
ATPase H+ transporting accessory protein 1
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...
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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Avpr2
arginine vasopressin receptor 2
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...
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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Bag6
BAG cochaperone 6
ISO
ClinVar Annotator: match by term: Periventricular nodular heterotopia
ClinVar
PMID:31474318
NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
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Bcap31
B-cell receptor-associated protein 31
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...
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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Bgn
biglycan
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...
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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Brcc3
BRCA1/BRCA2-containing complex subunit 3
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...
NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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Ccnq
cyclin Q
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...
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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Clic2
chloride intracellular channel 2
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...
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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Cmc4
C-X9-C motif containing 4
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...
NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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Cpa6
carboxypeptidase A6
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...
NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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Ctag2
cancer/testis antigen 2
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...
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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Dkc1
dyskerin pseudouridine synthase 1
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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Dnase1l1
deoxyribonuclease 1-like 1
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...
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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Dusp9
dual specificity phosphatase 9
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...
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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Emd
emerin
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...
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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Ermard
ER membrane-associated RNA degradation
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687
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F8
coagulation factor VIII
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...
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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F8a1
coagulation factor VIII-associated 1
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...
NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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Fam3a
FAM3 metabolism regulating signaling molecule A
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...
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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Fam50a
family with sequence similarity 50, member A
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...
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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Flna
filamin A
ISO ISS IMP
DNA:mutations:multiple (human) 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 OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544 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 DNA:deletion:cds:c.7941_7942delCT (human) CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
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: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: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 PMID:9883725 PMID:23873601 PMID:11532987 PMID:22076441 More...
RGD:1598953 , RGD:11565137 , RGD:11565112 , RGD:11564351
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Fundc2
FUN14 domain containing 2
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...
NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G6pd
glucose-6-phosphate dehydrogenase
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...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gdi1
GDP dissociation inhibitor 1
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...
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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H2ab3
H2A.B variant histone 3
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...
NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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Haus7
HAUS augmin-like complex, subunit 7
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...
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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Hcfc1
host cell factor C1
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...
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Idh3g
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
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...
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
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...
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Irak1
interleukin-1 receptor-associated kinase 1
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...
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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L1cam
L1 cell adhesion molecule
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...
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Lage3
L antigen family, member 3
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...
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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Map1b
microtubule-associated protein 1B
ISO
ClinVar Annotator: match by term: Periventricular nodular heterotopia
ClinVar
PMID:25741868 PMID:29738522 PMID:30150678
NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
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Mecp2
methyl CpG binding protein 2
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...
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mpp1
MAGUK p55 scaffold protein 1
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...
G
Mtcp1
mature T-cell proliferation 1
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...
NCBI chr18:126,189...130,123
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
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...
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27694961
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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Nsdhl
NAD(P) dependent steroid dehydrogenase-like
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...
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Opn1mw
opsin 1, medium wave sensitive
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...
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Pdzd4
PDZ domain containing 4
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...
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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Plxna3
plexin A3
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...
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Plxnb3
plexin B3
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...
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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Pnck
pregnancy up-regulated nonubiquitous CaM kinase
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...
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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Pnma3
PNMA family member 3
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...
NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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Pnma5
PNMA family member 5
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...
NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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Pnma6e
PNMA family member 6E
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...
NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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Renbp
renin binding protein
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...
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Rpl10
ribosomal protein L10
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...
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Slc10a3
solute carrier family 10, member 3
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...
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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Slc6a8
solute carrier family 6 member 8
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...
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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Srpk3
SRSF protein kinase 3
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...
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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Ssr4
signal sequence receptor subunit 4
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...
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
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...
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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Tex28
testis expressed 28
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...
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1
transketolase-like 1
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...
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Tmlhe
trimethyllysine hydroxylase, epsilon
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...
NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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Trex2
three prime repair exonuclease 2
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...
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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Ubl4a
ubiquitin-like 4A
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...
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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Vbp1
VHL binding protein 1
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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Zfp185
zinc finger protein 185
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...
NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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Zfp92
ZFP92 zinc finger protein
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...
NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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Arfgef2
ADP ribosylation factor guanine nucleotide exchange factor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive DNA:missense mutations, deletion:exon:multiple
OMIM CTD ClinVar RGD
PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 PMID:23812912 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:14647276 More...
RGD:1300288
NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
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Dchs1
dachsous cadherin-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056717
NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056717
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Flna
filamin A
ISO
CTD Direct Evidence: marker/mechanism 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
CTD 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:15668422 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...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Ermard
ER membrane-associated RNA degradation
ISO
ClinVar Annotator: match by term: Periventricular nodular heterotopia 6
OMIM ClinVar
PMID:24056535 PMID:25741868 PMID:28492532
NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687
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Nedd4l
NEDD4 like E3 ubiquitin protein ligase
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...
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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Arf1
ADP-ribosylation factor 1
ISO
ClinVar Annotator: match by term: Periventricular nodular heterotopia 8
OMIM ClinVar
PMID:25741868 PMID:28868155
NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434
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Map1b
microtubule-associated protein 1B
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...
NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
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Adam30
ADAM metallopeptidase domain 30
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:28492532
NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599
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Hao2
hydroxyacid oxidase 2
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:14645240 PMID:24836451 PMID:28492532
NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
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Hmgcs2
3-hydroxy-3-methylglutaryl-CoA synthase 2
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:28492532
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
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Hsd3b1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:14645240 PMID:24836451 PMID:28492532
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:14645240 PMID:24836451 PMID:28492532
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:28492532
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Phgdh
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: PHGDH deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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 More...
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
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Reg4
regenerating family member 4
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:28492532
NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353
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Tbx15
T-box transcription factor 15
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:14645240 PMID:24836451 PMID:28492532
NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663
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Wars2
tryptophanyl tRNA synthetase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:14645240 PMID:24836451 PMID:28492532
NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571
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Zfp697
zinc finger protein 697
ISO
ClinVar Annotator: match by term: PHGDH deficiency
ClinVar
PMID:14645240 PMID:24836451 PMID:28492532
NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041
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Max
MYC associated factor X
susceptibility
ISO
OMIM
NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
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Strada
STE20 related adaptor alpha
ISO
ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 PMID:25741868 PMID:27170158 PMID:28492532 PMID:29358611 PMID:33605605 PMID:35830182 More...
NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
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Akt3
AKT serine/threonine kinase 3
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...
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Polymicrogyria
ClinVar
PMID:25741868 PMID:31608932
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Lama2
laminin subunit alpha 2
ISO
ClinVar Annotator: match by term: Polymicrogyria
ClinVar
PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646
NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Polymicrogyria
ClinVar
PMID:28492532 PMID:29706646
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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Lingo4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: Polymicrogyria
ClinVar
PMID:29706646
NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787
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Ofd1
Ofd1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Polymicrogyria
ClinVar
PMID:25741868
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Polymicrogyria
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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Scn3a
sodium voltage-gated channel alpha subunit 3
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...
NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: Polymicrogyria
ClinVar
PMID:32581362
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Wdr62
WD repeat domain 62
ISO
DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human)
RGD
PMID:21834044
RGD:11541050
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Tuba8
tubulin, alpha 8
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...
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Col3a1
collagen type III alpha 1 chain
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 More...
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Pah
phenylalanine hydroxylase
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...
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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Pi4ka
phosphatidylinositol 4-kinase alpha
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...
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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Col4a1
collagen type IV alpha 1 chain
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Porencephaly
CTD ClinVar MouseDO
PMID:607595 PMID:23225343 PMID:25741868
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Col4a2
collagen type IV alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.2399G>A,p.G800E(human)
CTD RGD
PMID:26708157
RGD:13450938
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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Wdfy3
WD repeat and FYVE domain containing 3
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
NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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Angpt2
angiopoietin 2
ISO
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Aspm
assembly factor for spindle microtubules
ISO
DNA:mutations: : ClinVar Annotator: match by term: Autosomal recessive primary microcephaly DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human)
ClinVar RGD
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 PMID:19770472 PMID:18452193 More...
RGD:13442485 , RGD:13442486
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Cenpj
centromere protein J
ISO
DNA:deletion mutation:cds:c.3243-46delTCAG (human) ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar RGD
PMID:18414213 PMID:24033266 PMID:16900296
RGD:11541115
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Cit
citron rho-interacting serine/threonine kinase
ISO
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar
PMID:27453579 PMID:27503289
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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Knl1
kinetochore scaffold 1
ISO
DNA:mutation:cds: c.6125 G>A,p. M2041I(human)
RGD
PMID:22983954
RGD:9685043
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
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Mcph1
microcephalin 1
ISO
DNA:deletion: :p.R393Sfs*50 (human) ClinVar Annotator: match by term: Autosomal recessive primary microcephaly DNA:mutations:exon, intron:multiple
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:22775483 PMID:20978018
RGD:13204748 , RGD:13204750
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Wdr62
WD repeat domain 62
ISO
DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human) ClinVar Annotator: match by term: Autosomal recessive primary microcephaly DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)
ClinVar RGD
PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:28492532 PMID:28756000 PMID:31130284 PMID:25303973 PMID:22308068 More...
RGD:11541051 , RGD:11541056
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Zfp335
zinc finger protein 335
ISO
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar
PMID:25741868
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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Angpt2
angiopoietin 2
ISO
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Aspm
assembly factor for spindle microtubules
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...
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
ClinVar
PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Mcph1
microcephalin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive DNA:insertion:exon:c.427insA (human)
OMIM CTD ClinVar RGD
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:34402213 PMID:15199523 More...
RGD:9589022
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Rnf17
ring finger protein 17
ISO
ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
ClinVar
PMID:25741868
NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Zfp335
zinc finger protein 335
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10
OMIM CTD ClinVar
PMID:19131338 PMID:23178126 PMID:25741868 PMID:27540107 PMID:28327206 PMID:28492532 PMID:29652087 PMID:33216650 More...
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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Phc1
polyhomeotic homolog 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive
OMIM CTD ClinVar
PMID:23418308 PMID:25558065 PMID:25741868
NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
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Cdk6
cyclin-dependent kinase 6
ISO
ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:23918663
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cenpe
centromere protein E
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive
OMIM CTD ClinVar
PMID:24748105 PMID:25741868
NCBI chr 2:223,637,035...223,695,692
Ensembl chr 2:223,636,998...223,695,669
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Sass6
SAS-6 centriolar assembly protein
ISO
ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237
NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927
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Mfsd2a
MFSD2 lysolipid transporter A, lysophospholipid
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive
OMIM CTD ClinVar
PMID:25741868 PMID:26005865 PMID:26005868 PMID:28492532 PMID:30043326 PMID:32572202 More...
NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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Ankle2
ankyrin repeat and LEM domain containing 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive
OMIM CTD ClinVar
PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 PMID:31735666 PMID:35871307 More...
NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514
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Cit
citron rho-interacting serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive
OMIM CTD ClinVar
PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 PMID:28492532 More...
NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
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Copb2
COPI coat complex subunit beta 2
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
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Wdr62
WD repeat domain 62
ISO ISS
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:604317 CTD Direct Evidence: marker/mechanism DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human) DNA:mutation:cds:c.390G > A(human) DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human)
OMIM ClinVar MouseDO CTD RGD
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 PMID:21961505 PMID:26577670 PMID:21496009 More...
RGD:11537475 , RGD:11537473 , RGD:11537472
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Kif14
kinesin family member 14
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...
NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive
ClinVar
PMID:25741868
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Ncapd2
non-SMC condensin I complex, subunit D2
ISO
ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive
OMIM ClinVar
PMID:25741868
NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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Ncapd3
non-SMC condensin II complex, subunit D3
ISO
ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:27737959
NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
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Ncaph
non-SMC condensin I complex, subunit H
ISO
ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:27737959
NCBI chr 3:114,371,937...114,399,178
Ensembl chr 3:114,371,941...114,399,180
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Nup37
nucleoporin 37
ISO
ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:30179222
NCBI chr 7:22,556,544...22,609,622
Ensembl chr 7:22,573,764...22,609,616
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Trappc14
trafficking protein particle complex subunit 14
ISO
ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:30715179
NCBI chr12:17,262,748...17,267,093
Ensembl chr12:17,262,750...17,267,084
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Lmnb1
lamin B1
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
NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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Lmnb2
lamin B2
ISO
ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant
ClinVar OMIM
PMID:25741868 PMID:33033404
NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
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Rrp7a
ribosomal RNA processing 7 homolog A
ISO
ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive
OMIM ClinVar
PMID:33199730
NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
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Pdcd6ip
programmed cell death 6 interacting protein
ISO
OMIM
NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773
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Cdk5rap2
CDK5 regulatory subunit associated protein 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive DNA:nonsense mutation:exon:243T>A(p.S81X)(human) DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human)
OMIM CTD ClinVar RGD
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 PMID:17764569 PMID:23587236 More...
RGD:13450905 , RGD:11057920
NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
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Bub1
BUB1 mitotic checkpoint serine/threonine kinase
ISO
ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive
OMIM ClinVar
PMID:35044816
NCBI chr 3:115,020,254...115,051,650
Ensembl chr 3:115,020,254...115,051,650
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Knl1
kinetochore scaffold 1
ISO
ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10521316 PMID:18414213 PMID:22983954 PMID:25326637 PMID:25741868 PMID:26626498 PMID:27149178 PMID:28454995 PMID:28492532 More...
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
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Aspm
assembly factor for spindle microtubules
ISO
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
ClinVar
PMID:25741868
NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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Slc26a4
solute carrier family 26 member 4
ISO
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
ClinVar
PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Rnf17
ring finger protein 17
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...
NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Stil
STIL, centriolar assembly protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive
OMIM CTD 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...
NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
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Cep135
centrosomal protein 135
ISO
ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 PMID:30214071 PMID:31696992 PMID:32643282 More...
NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772
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Cep152
centrosomal protein 152
ISO
ClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 PMID:25741868 PMID:25996639 PMID:28454995 PMID:28492532 PMID:34402213 More...
NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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Dhcr7
7-dehydrocholesterol reductase
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...
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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Igf2bp3
insulin-like growth factor 2 mRNA binding protein 3
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
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:34798354 More...
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Rab11a
RAB11a, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
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Rttn
rotatin
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868 PMID:26608784
NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
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...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Tsr1
TSR1, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Primary microcephaly
ClinVar
PMID:25741868
NCBI chr10:59,760,420...59,771,868
Ensembl chr10:59,760,409...59,771,864
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Als2cl
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419
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Arih2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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Arih2os
ARIH2 opposite strand lncRNA
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
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Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543
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Ccdc12
coiled-coil domain containing 12
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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Ccdc51
coiled-coil domain containing 51
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472
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Ccr1
C-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 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Ccr9
C-C motif chemokine receptor 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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Ccrl2
C-C motif chemokine receptor like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664
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Cdc25a
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
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Celsr3
cadherin, EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Cripto
cripto, EGF-CFC family member
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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Cspg5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758
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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
NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
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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 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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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 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
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Elp6
elongator acetyltransferase complex subunit 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067
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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
NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
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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 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
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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 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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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 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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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 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252
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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 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323
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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 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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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 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714
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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 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185
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Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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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 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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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 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362
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Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,264,098...109,264,188
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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 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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Nbeal2
neurobeachin-like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
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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 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246
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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 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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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 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
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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 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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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 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,743,470...109,769,153
Ensembl chr 8:109,744,697...109,769,027
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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 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,842,525...110,848,855
Ensembl chr 8:110,842,671...110,848,802
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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 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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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 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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Qrich1
glutamine-rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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Rtp3
receptor (chemosensory) transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699
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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 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413
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Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666
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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 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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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 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408
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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 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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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 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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Slc6a20a
solute carrier family 6 member 20a
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
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 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720
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Spink8
serine peptidase inhibitor, Kazal type 8
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994
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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 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474
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Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
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Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
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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 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
G
Uqcrc1
ubiquinol-cytochrome c reductase core protein 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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 8:123,479,454...123,516,168
Ensembl chr 8:123,479,590...123,487,226
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Psat1
phosphoserine aminotransferase 1
ISO
ClinVar Annotator: match by term: PSAT deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17436247 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29269105 PMID:32077105 PMID:34089226 More...
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Ocln
occludin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1
OMIM CTD ClinVar
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532
NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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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 CTD Direct Evidence: marker/mechanism DNA:deletion, snps, missense mutations:multiple (human)
OMIM ClinVar CTD RGD
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 PMID:17924334 More...
RGD:11560486
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532 PMID:29979980
NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SCHIZENCEPHALY
CTD ClinVar
PMID:23225343 PMID:25741868 PMID:28492532
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Emx2
empty spiracles homeobox 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Schizencephaly
OMIM CTD ClinVar
PMID:8528262 PMID:9359037
NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
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Emx2os
Emx2 opposite strand/antisense RNA
ISO
ClinVar Annotator: match by term: Schizencephaly
ClinVar
NCBI chr 1:258,569,637...258,626,810
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Shh
sonic hedgehog signaling molecule
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Schizencephaly
OMIM CTD 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...
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Six3
SIX homeobox 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Schizencephaly
OMIM CTD ClinVar
PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 More...
NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301
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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...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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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...
NCBI chr 4:178,185,418...178,218,484
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Lrrc56
leucine rich repeat containing 56
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...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Nras
NRAS proto-oncogene, GTPase
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...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Atr
ATR serine/threonine kinase
susceptibility
ISO
DNA:point mutation:2101A>G (human) ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM 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:26845104 PMID:28492532 PMID:29439820 PMID:30159786 PMID:30199583 PMID:30262796 PMID:30995915 PMID:32606146 PMID:33057211 PMID:34008015 PMID:12640452 PMID:19620979 More...
RGD:1599404 , RGD:10053614
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Seckel syndrome 1
ClinVar
PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Cep152
centrosomal protein 152
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21131973
NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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Pcnt
pericentrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18157127
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Pcnt
pericentrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18174396
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Rbbp8
RB binding protein 8, endonuclease
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2
OMIM CTD ClinVar
PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 PMID:27848944 PMID:28492532 More...
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Seckel syndrome 4 CTD Direct Evidence: marker/mechanism DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)
OMIM ClinVar CTD RGD
PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 PMID:20522431 PMID:23166506 More...
RGD:11541118 , RGD:11541114
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Rnf17
ring finger protein 17
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...
NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:34279089 PMID:35307828 More...
NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
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Ext2
exostosin glycosyltransferase 2
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...
NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059
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Nhej1
nonhomologous end-joining factor 1
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 PMID:16571728 PMID:17317666 PMID:17576681 PMID:20597108 PMID:25661488 PMID:25741868 PMID:26122175 PMID:26193622 PMID:28492532 PMID:28741180 PMID:31130284 PMID:31589614 PMID:31589898 More...
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Cenpt
centromere protein T
ISO
ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies
OMIM ClinVar
PMID:25741868 PMID:29228025
NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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Cript
CXXC repeat containing interactor of PDZ3 domain
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
NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399
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Pigf
phosphatidylinositol glycan anchor biosynthesis, class F
ISO
ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies
ClinVar
PMID:27250922
NCBI chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675
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Zfp407
zinc finger protein 407
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
NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
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Xrcc2
X-ray repair cross complementing 2
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...
NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
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Xrcc4
X-ray repair cross complementing 4
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...
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Csgalnact1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
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
NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
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Chd3
chromodomain helicase DNA binding protein 3
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...
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Naa38
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome
ClinVar
PMID:25741868
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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Scarna21
small Cajal body-specific RNA 21
ISO
ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome
ClinVar
PMID:25741868
NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098
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Slc1a4
solute carrier family 1 member 4
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...
NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418
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Nans
N-acetylneuraminate synthase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type
OMIM CTD ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424
NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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Trim14
tripartite motif-containing 14
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type
ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424
NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858
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Cenpf
centromere protein F
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stromme syndrome
OMIM CTD ClinVar
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 PMID:28407396 PMID:28492532 More...
NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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Dcx
doublecortin
ISO
DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human) ClinVar Annotator: match by term: Subcortical band heterotopia
ClinVar RGD
PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 PMID:10369164
RGD:12904717
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Eml1
EMAP like 1
ISO ISS
OMIM:600348 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Band heterotopia of brain
OMIM MouseDO CTD ClinVar
PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411
NCBI chr 6:127,283,968...127,457,246
Ensembl chr 6:127,284,029...127,457,246
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Pafah1b1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
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...
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Dcx
doublecortin
ISO IMP
DNA:deletions DNA:nonsense mutation: :p.R186C (971C>T) (human)
RGD
PMID:19050731 PMID:9618162 PMID:19098909
RGD:12904718 , RGD:12904762 , RGD:12904725
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Hmgb3
high mobility group box 3
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr X:149,296,303...149,301,290
Ensembl chr X:149,296,375...149,301,292
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Atp6ap2
ATPase H+ transporting accessory protein 2
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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Bcor
BCL6 co-repressor
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Cxhxorf38
similar to human chromosome X open reading frame 38
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
G
Gpr34
G protein-coupled receptor 34
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...
NCBI chr X:9,104,829...9,113,796
Ensembl chr X:9,104,565...9,148,601
G
Gpr82
G protein-coupled receptor 82
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...
NCBI chr X:9,079,016...9,084,696
Ensembl chr X:9,080,254...9,081,240
G
Ldlr
low density lipoprotein receptor
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: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 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Med14
mediator complex subunit 14
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
G
Mpc1l
mitochondrial pyruvate carrier 1-like
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
G
Nyx
nyctalopin
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
G
Usp9x
ubiquitin specific peptidase 9, X-linked
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
G
Aff2
ALF transcription elongation factor 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
G
Camta1
calmodulin binding transcription activator 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868
NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
G
Huwe1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
G
Ski
Ski proto-oncogene
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
G
Rnf125
ring finger protein 125
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome
OMIM CTD ClinVar
PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401
NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983
G
H4c3
H4 clustered histone 3
ISO
ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1
OMIM ClinVar
PMID:15808514 PMID:19818714 PMID:25741868 PMID:28920961
G
Fibp
FGF1 intracellular binding protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
OMIM CTD ClinVar
PMID:25741868 PMID:26660953 PMID:27183861
NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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Zfp407
zinc finger protein 407
ISO
ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
ClinVar
PMID:25741868
NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
G
Bmp4
bone morphogenetic protein 4
ISO
protein:decreased expression, altered localization:cerebral cortex:
RGD
PMID:22752548
RGD:9068443
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
G
Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
treatment
IDA
RGD
PMID:12384518
RGD:1549429
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
G
Flna
filamin A
ISO
protein:increased expression:prefrontal cortex (human)
RGD
PMID:25277454
RGD:11565117
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16845661
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:cerebral cortex
RGD
PMID:22459050
RGD:8547829
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Tuberous sclerosis syndrome
ClinVar
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
G
Tsc1
TSC complex subunit 1
susceptibility
ISO ISS
DNA:nonsense mutations, deletion: :multiple ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human) DNA:deletions, duplication, point mutation:exon, intron:multiple CTD Direct Evidence: marker/mechanism
ClinVar MouseDO RGD CTD
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:18345974 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:21062901 PMID:21309039 PMID:21345208 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 PMID:9242607 PMID:25900779 PMID:21403402 PMID:16114042 More...
RGD:1624196 , RGD:1624196 , RGD:11073512 , RGD:11570511 , RGD:11062248
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
G
Tsc2
TSC complex subunit 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome DNA:mutations:exon, intron:multiple
CTD ClinVar MouseDO RGD
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:18345974 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:21062901 PMID:21309039 PMID:21332470 PMID:21345208 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: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: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 PMID:16114042 PMID:9007104 More...
RGD:11062248 , RGD:11568672
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Abca2
ATP binding cassette subfamily A member 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Adamtsl2
ADAMTS-like 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
G
Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
G
Ajm1
apical junction component 1 homolog
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
G
Ak8
adenylate kinase 8
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
G
Barhl1
BarH-like homeobox 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
G
Brd3
bromodomain containing 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
G
C8g
complement C8 gamma chain
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
G
Cacfd1
calcium channel flower domain containing 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406
G
Camsap1
calmodulin regulated spectrin-associated protein 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
G
Card9
caspase recruitment domain family, member 9
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
G
Ccdc183
coiled-coil domain containing 183
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
G
Cel
carboxyl ester lipase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
G
Cfap77
cilia and flagella associated protein 77
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
G
Clic3
chloride intracellular channel 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
G
Dbh
dopamine beta-hydroxylase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
G
Ddx31
DEAD-box helicase 31
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
G
Dipk1b
divergent protein kinase domain 1B
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
G
Dnlz
DNL-type zinc finger
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
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Dpp7
dipeptidylpeptidase 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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Edf1
endothelial differentiation-related factor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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Egfl7
EGF-like-domain, multiple 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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Fam163b
family with sequence similarity 163, member B
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458
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Fbxw5
F-box and WD repeat domain containing 5
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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Fcnb
ficolin B
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151
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Fut7
fucosyltransferase 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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Gbgt1
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,826,131...11,829,745
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Glt6d1
glycosyltransferase 6 domain containing 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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Gpsm1
G-protein signaling modulator 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Gtf3c4
general transcription factor IIIC subunit 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
G
Gtf3c5
general transcription factor IIIC subunit 5
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
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Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Kcnt1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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Lcn1
lipocalin 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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Lcn10
lipocalin 10
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
G
Lcn12
lipocalin 12
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
G
Lcn6
lipocalin 6
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
G
Lcn8
lipocalin 8
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
G
Lcn9
lipocalin 9
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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Lhx3
LIM homeobox 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Mamdc4
MAM domain containing 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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Man1b1
mannosidase, alpha, class 1B, member 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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Med22
mediator complex subunit 22
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836
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Mir126a
microRNA 126a
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mrps2
mitochondrial ribosomal protein S2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
G
Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
G
Nacc2
NACC family member 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
G
Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Npdc1
neural proliferation, differentiation and control, 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
G
Obp2a
odorant binding protein 2A
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
G
Obp2b
odorant binding protein 2B
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258
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Olfm1
olfactomedin 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
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Paep
progestagen associated endometrial protein
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
G
Paxx
PAXX, non-homologous end joining factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
G
Phpt1
phosphohistidine phosphatase 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,392,926...8,394,325
G
Pierce1
piercer of microtubule wall 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
G
Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
G
Ppp1r26
protein phosphatase 1, regulatory subunit 26
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
G
Ptgds
prostaglandin D2 synthase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
G
Qsox2
quiescin sulfhydryl oxidase 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
G
Rabl6
RAB, member RAS oncogene family-like 6
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
G
Ralgds
ral guanine nucleotide dissociation stimulator
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059
G
Rexo4
REX4 homolog, 3'-5' exonuclease
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996
G
Rnu6atac
RNA, U6atac small nuclear
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946
G
Rpl7a
ribosomal protein L7A
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716
G
Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
G
Sapcd2
suppressor APC domain containing 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
G
Sardh
sarcosine dehydrogenase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
G
Sec16a
SEC16 homolog A, endoplasmic reticulum export factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
G
Setx
senataxin
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
G
Slc2a6
solute carrier family 2 member 6
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208
G
Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
G
Spaca9
sperm acrosome associated 9
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
G
Stkld1
serine/threonine kinase-like domain containing 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566
G
Surf1
SURF1, cytochrome c oxidase assembly factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
G
Surf2
surfeit 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077
G
Surf4
surfeit 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315
G
Surf6
surfeit 6
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251
G
Tmem141
transmembrane protein 141
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
G
Tmem250
transmembrane protein 250
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
G
Traf2
Tnf receptor-associated factor 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
G
Tsc1
TSC complex subunit 1
treatment
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD 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: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 PMID:26019056 More...
RGD:11570507
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Ttf1
transcription termination factor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
G
Uap1l1
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
G
Ubac1
UBA domain containing 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
G
Vav2
vav guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052
G
Wdr5
WD repeat domain 5
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar
PMID:28492532
NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671
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
NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193
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Baiap3
BAI1-associated protein 3
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019
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Bricd5
BRICHOS domain containing 5
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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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
NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Caskin1
CASK interacting protein 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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Ccdc154
coiled-coil domain containing 154
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
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Ccdc78
coiled-coil domain containing 78
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
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Chtf18
chromosome transmission fidelity factor 18
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050
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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
NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
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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 chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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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 chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392
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Dnase1l2
deoxyribonuclease 1 like 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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E4f1
E4F transcription factor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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Eci1
enoyl-CoA delta isomerase 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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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 chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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Fahd1
fumarylacetoacetate hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062
NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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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
NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986
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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...
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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Gng13
G protein subunit gamma 13
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083
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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
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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Hagh
hydroxyacyl glutathione hydrolase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062
NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
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Haghl
hydroxyacylglutathione hydrolase-like
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665
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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...
NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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 chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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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 chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Jmjd8
jumonji domain containing 8
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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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 chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170
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Lmf1
lipase maturation factor 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
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LOC120095472
small nucleolar RNA ACA64
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,746,885...13,747,012
Ensembl chr10:13,746,885...13,747,012
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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 chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
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Mcrip2
MAPK regulated co-repressor interacting protein 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021
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Meiob
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...
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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Metrn
meteorin, glial cell differentiation regulator
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701
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Mettl26
methyltransferase like 26
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851
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Mlst8
MTOR associated protein, LST8 homolog
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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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 chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
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Msln
mesothelin
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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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...
NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
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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...
NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
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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...
NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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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 chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359
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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...
NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061
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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...
NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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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...
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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Nubp2
NUBP iron-sulfur cluster assembly factor 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062
NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
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Pgp
phosphoglycolate phosphatase
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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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
NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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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...
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Ptx4
pentraxin 4
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
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Rab26
RAB26, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
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Rab40c
Rab40c, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,900,926...14,936,153
Ensembl chr10:14,900,929...14,936,557
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Rhbdl1
rhomboid like 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430
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Rhot2
ras homolog family member T2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751
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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...
NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
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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...
NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
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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...
NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
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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
NCBI chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207
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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 chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Snora64
small nucleolar RNA, H/ACA box 64
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,748,139...13,748,272
Ensembl chr10:13,748,139...13,748,272
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Snord60
small nucleolar RNA, C/D box 60
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,552,773...13,552,855
Ensembl chr10:13,552,773...13,552,855
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Sox8
SRY-box transcription factor 8
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
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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 chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
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Sstr5
somatostatin receptor 5
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946
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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
NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
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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...
NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669
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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...
NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
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Telo2
telomere maintenance 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
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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 chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
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Tpsab1
tryptase alpha/beta 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
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Tpsb2
tryptase beta 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569
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Tpsg1
tryptase gamma 1
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258
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Traf7
TNF receptor associated factor 7
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:25741868
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
G
Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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: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: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: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: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:34252879 PMID:34403804 PMID:34489640 PMID:34575676 PMID:34754157 PMID:34804623 PMID:34849272 PMID:34992632 PMID:35231114 PMID:35288456 PMID:35307828 PMID:35441217 PMID:35599849 PMID:35712104 PMID:35768438 PMID:35918040 PMID:36030538 PMID:36117189 PMID:36229297 PMID:36232477 PMID:37228977 More...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Tsr3
TSR3 ribosome maturation factor
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,257,161...14,259,562
Ensembl chr10:14,257,171...14,259,561
G
Ube2i
ubiquitin-conjugating enzyme E2I
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443 Ensembl chr10:69,701,618...69,702,443
G
Unkl
unk like zinc finger
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
G
Uqcc4
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 chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029
G
Wdr24
WD repeat domain 24
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
G
Wdr90
WD repeat domain 90
ISO
ClinVar Annotator: match by term: Tuberous sclerosis 2
ClinVar
PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
NCBI chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292
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
NCBI chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863
G
Zfp598
zinc finger protein 598
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...
NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233
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 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
Aqp4
aquaporin 4
ISO
RGD
PMID:20680099
RGD:5148028
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
G
B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
G
B4gat1
beta-1,4-glucuronyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
G
Calm3
calmodulin 3
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
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
NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
G
Col4a1
collagen type IV alpha 1 chain
ISS
OMIM:236670 | OMIM:253280
MouseDO
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
G
Crppa
CDP-L-ribitol pyrophosphorylase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22522420 PMID:22522421
NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
G
Dact3
dishevelled-binding antagonist of beta-catenin 3
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630
G
Dag1
dystroglycan 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18923033 PMID:24824861
RGD:11537405 , RGD:11537406
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Fkrp
fukutin related protein
ISO
DNA:missense mutation:exon:p.M1V (c.1A>G) (human) 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
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: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 PMID:20236121 More...
RGD:11667969
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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: Walker-Warburg syndrome ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation, nonsense mutation, insertions: :multiple DNA:insertion:exon:c.1167insA (human)
ClinVar CTD RGD
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 PMID:9690476 PMID:24824861 PMID:10545611 PMID:19266496 More...
RGD:1598929 , RGD:11537406 , RGD:11062579 , RGD:11576320
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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 5:68,258,877...68,334,931
Ensembl chr 5:68,258,932...68,334,928
G
Gmppb
GDP-mannose pyrophosphorylase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
G
Gng8
G protein subunit gamma 8
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371
G
Large1
LARGE xylosyl- and glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
G
Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ISO ISS
DNA:missense mutations, nonsense mutation: :multiple ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy 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 CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human) DNA:missense mutations, splice-site mutations, deletions: :multiple DNA:deletions, splice-site mutation:exon, intron:multiple
MouseDO ClinVar CTD RGD
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 PMID:23689641 PMID:15236414 PMID:11709191 PMID:22554691 More...
RGD:11532772 , RGD:11071487 , RGD:1554293 , RGD:11065512
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
G
Pomgnt2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26060116
RGD:11532770
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
G
Pomk
protein-O-mannose kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
G
Pomt1
protein-O-mannosyltransferase 1
ISO
DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple 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 CTD Direct Evidence: marker/mechanism DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human) DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple
ClinVar CTD RGD
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 PMID:12369018 PMID:15637732 PMID:16575835 More...
RGD:731235 , RGD:11073321 , RGD:11532686
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Pomt2
protein-O-mannosyltransferase 2
ISO
DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human) ClinVar Annotator: match by term: Pagon syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532 PMID:15894594 More...
RGD:11532761
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Prkd2
protein kinase D2
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
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Ptgir
prostaglandin I2 receptor
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
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Rxylt1
ribitol xylosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD ClinVar
PMID:23217329 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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Slc44a1
solute carrier family 44 member 1
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
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Strn4
striatin 4
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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Tal2
TAL bHLH transcription factor 2
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...
NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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Tmem38b
transmembrane protein 38B
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...
NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025
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Tspan1
tetraspanin 1
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...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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Rab18
RAB18, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
CTD ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747
NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
CTD ClinVar
PMID:28492532
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Tbc1d20
TBC1 domain family, member 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
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...
NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
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...
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Rab18
RAB18, member RAS oncogene family
ISO ISS
OMIM:614222 ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM MouseDO ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443
NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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Tbc1d20
TBC1 domain family, member 20
ISO ISS
OMIM:615663 ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM MouseDO ClinVar
PMID:24239381 PMID:25741868 PMID:32740904
NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Arnt2
aryl hydrocarbon receptor nuclear translocator 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Webb-Dattani syndrome
OMIM CTD ClinVar
PMID:24022475 PMID:25741868 PMID:28492532
NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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...
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Smc1a
structural maintenance of chromosomes 1A
ISO
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar
PMID:25574841
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Dcx
doublecortin
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...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Arx
aristaless related homeobox
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia DNA:mutations:multiple (human)
OMIM CTD ClinVar RGD
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 PMID:12379852 More...
RGD:11565832
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations
ClinVar
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
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Fancb
FA complementation group B
ISO
CTD Direct Evidence: marker/mechanism 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
CTD ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Fancl
FA complementation group L
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...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD 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...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Sall1
spalt-like transcription factor 1
ISO
ClinVar Annotator: match by term: VACTERL-H
ClinVar
PMID:25741868
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Zic3
Zic family member 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
OMIM CTD ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 PMID:32753700 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Wls
Wnt ligand secretion mediator
ISO ISS
ClinVar Annotator: match by term: Zaki syndrome OMIM:619648
ClinVar MouseDO OMIM
PMID:25741868 PMID:34587386
NCBI chr 2:248,931,885...249,047,248
Ensembl chr 2:248,931,903...249,048,298
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21155
disease of anatomical entity
18219
nervous system disease
14053
Nervous System Malformations
2362
complex cortical dysplasia with other brain malformations
1583
Abnormal Cortical Gyration
3
CK syndrome
1
Complex Cortical Dysplasia with Other Brain Malformations 10
1
Complex Cortical Dysplasia with Other Brain Malformations 11
1
Complex Cortical Dysplasia with Other Brain Malformations 12
1
Complex Cortical Dysplasia with Other Brain Malformations 9
2
Curatolo Cilio Pessagno Syndrome
0
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
0
Malformations of Cortical Development, Group I +
1371
Malformations of Cortical Development, Group II +
182
Malformations of Cortical Development, Group III +
28
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
55
Muller Barth Menger Syndrome
0
Non-Lissencephalic Cortical Dysplasia
0
Occipital Cortical Malformations
1
Polymicrogyria with Optic Nerve Hypoplasia
1
Schizencephaly
5
autosomal dominant intellectual developmental disorder 13
2
complex cortical dysplasia with other brain malformations 1
2
complex cortical dysplasia with other brain malformations 2
1
complex cortical dysplasia with other brain malformations 3
1
complex cortical dysplasia with other brain malformations 4
1
complex cortical dysplasia with other brain malformations 5
1
complex cortical dysplasia with other brain malformations 6
1
complex cortical dysplasia with other brain malformations 7
1
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
1
Path 2
disease
21155
Developmental Disease
18469
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
18327
genetic disease
18271
monogenic disease
10324
autosomal genetic disease
9470
autosomal dominant disease
6224
complex cortical dysplasia with other brain malformations
1583
Abnormal Cortical Gyration
3
CK syndrome
1
Complex Cortical Dysplasia with Other Brain Malformations 10
1
Complex Cortical Dysplasia with Other Brain Malformations 11
1
Complex Cortical Dysplasia with Other Brain Malformations 12
1
Complex Cortical Dysplasia with Other Brain Malformations 9
2
Curatolo Cilio Pessagno Syndrome
0
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
0
Malformations of Cortical Development, Group I +
1371
Malformations of Cortical Development, Group II +
182
Malformations of Cortical Development, Group III +
28
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
55
Muller Barth Menger Syndrome
0
Non-Lissencephalic Cortical Dysplasia
0
Occipital Cortical Malformations
1
Polymicrogyria with Optic Nerve Hypoplasia
1
Schizencephaly
5
autosomal dominant intellectual developmental disorder 13
2
complex cortical dysplasia with other brain malformations 1
2
complex cortical dysplasia with other brain malformations 2
1
complex cortical dysplasia with other brain malformations 3
1
complex cortical dysplasia with other brain malformations 4
1
complex cortical dysplasia with other brain malformations 5
1
complex cortical dysplasia with other brain malformations 6
1
complex cortical dysplasia with other brain malformations 7
1
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
1