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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
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Accession:DOID:0090131 term browser 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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complex cortical dysplasia with other brain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729223 NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G FOXC1 forkhead box C1 ISO RGD PMID:20976766 RGD:12904052 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G FOXP1 forkhead box P1 ISO protein:altered expression:neocortex (human) RGD PMID:22759905 RGD:11560525 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO protein:decreased expression:neocortex: RGD PMID:20618401 RGD:9686432 NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27935819 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G KIF2A kinesin family member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
JBrowse link
G KIF5C kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
JBrowse link
G KIFBP kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chr10:65,455,924...65,484,140
Ensembl chr10:67,989,492...68,017,898
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729223 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729223 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11906504 NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337
JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223
JBrowse link
G TBR1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Cortical dysplasia ClinVar PMID:25741868 NCBI chr2B:48,709,687...48,719,382 JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Cortical dysplasia ClinVar PMID:10227394 PMID:10570911 PMID:15798777 PMID:17304050 PMID:23341583 More... NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
JBrowse link
G TUBG1 tubulin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
JBrowse link
G WDR62 WD repeat domain 62 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23341463 NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
JBrowse link
G C2H3orf20 chromosome 2 C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701
JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528
JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261
JBrowse link
G CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299
JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963
JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196
JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300
JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718
JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332
JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038
JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952
JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982
JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997
JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890
JBrowse link
G LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726
JBrowse link
G METTL6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238
JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594
JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242
JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011
JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621
JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287
JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322
JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579
JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361
JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464
JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971
JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326
JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132
JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
JBrowse link
Abnormal Cortical Gyration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Abnormal cortical gyration ClinVar PMID:18414213 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormal cortical gyration ClinVar PMID:25741868 NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCPS decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome OMIM
ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807
JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) OMIM
ClinVar
PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition OMIM
ClinVar
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar
PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
JBrowse link
autosomal dominant intellectual developmental disorder 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13
ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13
OMIM
ClinVar
PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21076407 More... NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G HIVEP2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 ClinVar PMID:25741868 NCBI chr 6:140,518,954...140,712,849
Ensembl chr 6:145,240,914...145,328,850
JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition OMIM
ClinVar
PMID:22495306 PMID:25363768 PMID:25741868 PMID:27418539 PMID:28191890 More... NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124
JBrowse link
autosomal recessive intellectual developmental disorder 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar
PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr12:91,220,813...91,593,799 JBrowse link
autosomal recessive intellectual developmental disorder 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:816,629...827,295
Ensembl chr11:860,899...867,436
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G 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 More... NCBI chr10:84,581,971...84,587,420 JBrowse link
G 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 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 OMIM
ClinVar
PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
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 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More...
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
JBrowse link
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM
ClinVar
PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 More...
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM
ClinVar
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:17576681 More... NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPB1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar
PMID:25741868 PMID:33632302 NCBI chr11:14,560,239...14,602,557
Ensembl chr11:14,251,699...14,293,850
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
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 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chr16:1,965,875...1,969,595
Ensembl chr16:3,138,229...3,141,876
JBrowse link
bilateral frontoparietal polymicrogyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria OMIM
ClinVar
PMID:15044805 PMID:18414213 PMID:19016831 PMID:20929962 PMID:21349848 More... NCBI chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221
JBrowse link
bilateral parasagittal parieto-occipital polymicrogyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM
ClinVar
PMID:17572665 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 More... NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
JBrowse link
bilateral perisylvian polymicrogyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive OMIM
ClinVar
PMID:25741868 NCBI chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G DDX23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr12:39,896,354...39,917,195
Ensembl chr12:40,774,975...40,796,466
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 NCBI chr 6:115,486,422...115,521,317 JBrowse link
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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29529044 Ensembl chr 4:6,345,864...6,379,287 JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
JBrowse link
G ABHD17C abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,676,295...59,736,771 JBrowse link
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,780,453...67,891,454
Ensembl chr15:86,987,070...87,095,818
JBrowse link
G ACAN aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,098,752...57,164,119
Ensembl chr15:76,064,937...76,128,835
JBrowse link
G ADAL adenosine deaminase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,291,939...22,315,830
Ensembl chr15:40,451,403...40,468,241
JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,562,930...37,717,175
Ensembl chr15:55,873,606...56,027,188
JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,291,451...61,295,148 JBrowse link
G ADAMTSL3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,567,731...61,953,255
Ensembl chr15:81,538,868...81,920,292
JBrowse link
G ADPGK ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444
JBrowse link
G AEN apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,237,871...67,321,808
Ensembl chr15:86,518,204...86,529,579
JBrowse link
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,350,226...24,369,308
Ensembl chr15:42,681,127...42,699,801
JBrowse link
G AGBL1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:64,774,408...65,603,628
Ensembl chr15:84,048,348...84,938,150
JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:64,076,422...64,438,109
Ensembl chr15:83,387,667...83,651,362
JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168
JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,484,027...63,541,021 JBrowse link
G ANKDD1A ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,851,575...43,898,578
Ensembl chr15:62,137,207...62,181,984
JBrowse link
G ANKRD34C ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,246,752...58,267,478
Ensembl chr15:77,220,348...77,221,955
JBrowse link
G ANKRD63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,212,457...19,217,434 JBrowse link
G ANP32A acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,736,770...47,778,763
Ensembl chr15:66,502,285...66,511,637
JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
JBrowse link
G ANXA2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
JBrowse link
G AP3S2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,524,982...68,583,917 JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,224,593...42,256,202
Ensembl chr15:60,520,031...60,551,599
JBrowse link
G AQP9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541
JBrowse link
G AQR aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:13,774,234...13,891,046
Ensembl chr15:32,036,653...32,149,157
JBrowse link
G ARID3B AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,482,870...53,542,063
Ensembl chr15:73,104,984...73,159,422
JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,423,132...51,534,278
Ensembl chr15:70,187,722...70,297,226
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,376,993...59,573,925 JBrowse link
G ARPIN actin related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532
G ARPP19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,488,156...31,510,404
Ensembl chr15:49,813,447...49,835,051
JBrowse link
G ATOSA atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,522,297...31,620,560
Ensembl chr15:49,848,026...49,944,808
JBrowse link
G ATP8B4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,803,848...29,060,526
Ensembl chr15:47,129,277...47,389,559
JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,379,221...12,574,147 JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G BAHD1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,376,233...19,404,699
Ensembl chr15:37,630,476...37,657,918
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
JBrowse link
G BCL2A1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,925,853...58,935,122
Ensembl chr15:77,882,940...77,893,628
JBrowse link
G BCL2L10 BCL2 like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109
JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM
ClinVar
PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... NCBI chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,469,225...24,553,163
Ensembl chr15:42,862,112...42,882,316
JBrowse link
G BMF Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075
JBrowse link
G BNC1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,316,229...62,345,123
Ensembl chr15:81,146,417...81,174,007
JBrowse link
G BNIP2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,628,798...38,659,161
Ensembl chr15:56,933,697...56,964,044
JBrowse link
G BTBD1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,535,893...62,589,656
Ensembl chr15:80,904,436...80,957,494
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
JBrowse link
G C16H15orf39 chromosome 16 C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,142,547...54,152,833
Ensembl chr15:73,753,921...73,767,224
JBrowse link
G C16H15orf40 chromosome 16 C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,594,213...62,601,425
Ensembl chr15:80,879,368...80,899,648
JBrowse link
G C16H15orf48 chromosome 16 C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,378,440...24,381,280
Ensembl chr15:42,709,122...42,727,209
JBrowse link
G C16H15orf61 chromosome 16 C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,471,604...46,477,100
Ensembl chr15:64,740,039...64,746,144
JBrowse link
G C16H15orf62 chromosome 16 C15orf62 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,709,049...19,713,564
Ensembl chr15:37,963,669...37,964,196
JBrowse link
G C2CD4A C2 calcium dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:41,020,652...41,031,100 JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:41,113,568...41,125,725 JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
JBrowse link
G CALML4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,140,272...47,155,700
Ensembl chr15:65,409,732...65,424,852
JBrowse link
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 Ensembl chr15:40,769,539...40,795,723 JBrowse link
G CCDC32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,466,344...19,510,553
Ensembl chr15:37,726,474...37,763,602
JBrowse link
G CCDC33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,158,057...53,278,500
Ensembl chr15:72,800,067...72,899,576
Ensembl chr15:72,800,067...72,899,576
JBrowse link
G CCDC9B coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,265,502...19,275,023
Ensembl chr15:37,520,475...37,529,968
JBrowse link
G CCNB2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,075,106...38,095,699
Ensembl chr15:56,382,391...56,402,299
JBrowse link
G CCNDBP1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,146,561...22,156,570
Ensembl chr15:40,301,401...40,311,443
JBrowse link
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880
JBrowse link
G CD276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,594,719...52,625,047 JBrowse link
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,684,234...21,697,840
Ensembl chr15:39,838,604...39,851,562
JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:15,503,685...15,734,015
Ensembl chr15:33,762,079...33,990,777
JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,760,481...59,932,698
Ensembl chr15:78,810,600...78,888,723
JBrowse link
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
JBrowse link
G CFAP161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:60,113,489...60,134,987
Ensembl chr15:79,075,432...79,090,283
JBrowse link
G CGNL1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,344,222...36,518,235
Ensembl chr15:54,669,190...54,831,595
JBrowse link
G CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,895,554...19,898,672
Ensembl chr15:38,145,730...38,148,698
JBrowse link
G CHP1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,172,874...20,223,382
Ensembl chr15:38,418,815...38,467,681
JBrowse link
G CHRM5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,478,656...12,575,512
Ensembl chr15:31,406,198...31,407,796
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,407,477...19,409,645
Ensembl chr15:37,660,621...37,661,622
JBrowse link
G CIAO2A cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,025,577...43,047,013
Ensembl chr15:61,317,188...61,338,337
JBrowse link
G CIB1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,919,377...68,923,213 JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485
JBrowse link
G CILP cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,142,312...44,159,395
Ensembl chr15:62,425,780...62,441,214
JBrowse link
G CIMAP1C ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571
JBrowse link
G CLK3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,550,793...53,576,744
Ensembl chr15:73,181,664...73,196,148
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
JBrowse link
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,088,070...44,128,730
Ensembl chr15:62,374,068...62,412,746
JBrowse link
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531
JBrowse link
G COPS2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,073,237...28,103,615
Ensembl chr15:46,396,077...46,426,396
JBrowse link
G CORO2B coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,536,641...47,685,357
Ensembl chr15:66,370,374...66,452,545
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948
JBrowse link
G CPLX3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,769,138...53,774,330
Ensembl chr15:73,386,826...73,391,991
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311
JBrowse link
G CRTC3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,217,679...69,333,897
Ensembl chr15:88,427,468...88,533,593
JBrowse link
G CSK C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,724,814...53,745,710
Ensembl chr15:73,342,703...73,363,476
JBrowse link
G CSNK1G1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,117,845...43,302,134
Ensembl chr15:61,410,414...61,594,180
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
JBrowse link
G CTDSPL2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,384,416...23,483,508
Ensembl chr15:41,554,276...41,654,736
JBrowse link
G CTSH cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
JBrowse link
G CTXN2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,127,250...27,152,785
Ensembl chr15:45,474,588...45,474,833
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
JBrowse link
G DAPK2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,860,484...42,999,489
Ensembl chr15:61,152,553...61,284,990
JBrowse link
G DENND4A DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,600,897...44,734,150
Ensembl chr15:62,882,496...63,012,979
JBrowse link
G DET1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,203,101...67,238,185
Ensembl chr15:86,411,937...86,444,789
JBrowse link
G DIS3L DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,246,867...45,287,521
Ensembl chr15:63,523,512...63,563,813
JBrowse link
G DISP2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,292,340...19,305,143
Ensembl chr15:37,548,049...37,559,623
JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281
JBrowse link
G DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,193,545...57,211,518
Ensembl chr15:76,158,155...76,176,089
JBrowse link
G DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,708,842...19,748,136
Ensembl chr15:37,960,965...37,999,674
JBrowse link
G DPH6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:14,293,746...14,469,331
Ensembl chr15:32,554,276...32,729,455
JBrowse link
G DPP8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,385,877...44,461,092
Ensembl chr15:62,666,088...62,740,504
JBrowse link
G DTWD1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,578,698...28,602,840
Ensembl chr15:46,902,304...46,926,401
JBrowse link
G DUOX1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,077,557...24,113,206
Ensembl chr15:42,431,595...42,467,943
JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281
JBrowse link
G DUOXA1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,064,967...24,077,641
Ensembl chr15:42,418,234...42,430,749
JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974
JBrowse link
G DUT deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,280,025...27,292,003
Ensembl chr15:45,603,807...45,616,022
JBrowse link
G EDC3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,577,101...53,642,504
Ensembl chr15:73,196,823...73,262,214
JBrowse link
G EFL1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,111,244...61,243,724 JBrowse link
G EHD4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,840,517...20,926,900
Ensembl chr15:39,010,302...39,086,713
JBrowse link
G EID1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,827,790...27,829,493 JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,493,363...23,518,705 JBrowse link
G ELL3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,732,742...22,737,522
Ensembl chr15:40,821,759...40,827,070
JBrowse link
G EMC4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,734,031...12,739,345
Ensembl chr15:31,568,622...31,573,547
JBrowse link
G EMC7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,593,498...12,611,409
Ensembl chr15:31,428,591...31,446,290
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
JBrowse link
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494
JBrowse link
G EXD1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,124,681...20,172,875
Ensembl chr15:38,373,481...38,418,179
JBrowse link
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098
JBrowse link
G FAM219B family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,840,510...53,847,389
Ensembl chr15:73,457,762...73,464,661
JBrowse link
G FAM227B family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,454,626...28,578,566
Ensembl chr15:46,614,922...46,896,481
JBrowse link
G FAM81A family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,408,682...38,493,751
Ensembl chr15:56,716,721...56,799,249
JBrowse link
G FAM98B family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:17,383,298...17,415,682 JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,543,909...42,548,938
Ensembl chr15:60,837,032...60,841,829
JBrowse link
G FBXO22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,817,076...54,849,271
Ensembl chr15:74,410,213...74,441,609
JBrowse link
G FEM1B fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,236,920...47,254,878
Ensembl chr15:66,005,614...66,024,007
JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
JBrowse link
G FGF7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
JBrowse link
G FOXB1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,979,727...38,983,040
Ensembl chr15:57,284,077...57,285,054
JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,830,850...23,161,693
Ensembl chr15:40,919,053...41,250,981
JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,790,477...62,842,838
Ensembl chr15:80,657,013...80,684,790
JBrowse link
G FSIP1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,540,424...18,722,868 JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023
JBrowse link
G GABPB1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,223,588...29,303,863
Ensembl chr15:47,547,202...47,600,234
JBrowse link
G GALK2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:28,103,719...28,278,718
Ensembl chr15:46,440,759...46,600,440
JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
JBrowse link
G GCHFR GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,704,891...19,708,686
Ensembl chr15:37,957,109...37,960,973
JBrowse link
G GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,580,509...38,589,223
Ensembl chr15:56,892,716...56,894,032
JBrowse link
G GDPGP1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,923,301...68,931,353
Ensembl chr15:88,132,147...88,133,304
JBrowse link
G GJD2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:13,668,639...13,672,691
Ensembl chr15:31,928,157...31,931,474
JBrowse link
G GLCE glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:48,110,725...48,222,251
Ensembl chr15:66,979,271...66,995,646
JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,285,743...30,352,403
Ensembl chr15:48,619,452...48,685,616
JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,061,310...31,122,427
Ensembl chr15:49,388,026...49,452,123
JBrowse link
G GOLGA6B golgin A6 family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,553,289...51,584,844 JBrowse link
G GOLM2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,248,227...23,372,928
Ensembl chr15:41,418,910...41,542,748
JBrowse link
G GPR176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,739,092...18,858,618
Ensembl chr15:36,995,149...37,007,073
JBrowse link
G GRAMD2A GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,111,249...51,148,379
Ensembl chr15:69,874,593...69,912,241
JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:11,213,870...11,230,619 JBrowse link
G GTF2A2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,608,360...38,627,156
Ensembl chr15:56,913,452...56,932,052
JBrowse link
G HACD3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,473,542...44,520,885
Ensembl chr15:62,752,762...62,799,950
JBrowse link
G HAPLN3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,565,957...67,584,352
Ensembl chr15:86,773,882...86,792,120
JBrowse link
G HAUS2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,510,173...21,531,733
Ensembl chr15:39,666,043...39,683,322
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
JBrowse link
G HDC histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,188,296...29,212,327
Ensembl chr15:47,510,629...47,534,577
JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,623,932...69,628,130 JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
G HMG20A high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:56,348,298...56,413,106
Ensembl chr15:72,137,714...72,202,149
JBrowse link
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,617,905...62,762,903
Ensembl chr15:80,737,570...80,784,729
JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,435,833...57,465,557
Ensembl chr15:76,400,131...76,428,844
JBrowse link
G HYPK huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,760,593...22,762,059
Ensembl chr15:40,850,849...40,852,835
JBrowse link
G ICE2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:39,393,556...39,452,395
Ensembl chr15:57,695,137...57,754,285
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,078,588...57,099,934
Ensembl chr15:76,043,311...76,064,634
JBrowse link
G IGDCC3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,272,875...44,324,328
Ensembl chr15:62,554,128...62,604,748
JBrowse link
G IGDCC4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,327,428...44,369,024
Ensembl chr15:62,608,243...62,642,881
JBrowse link
G IL16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861
JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710
JBrowse link
G INAFM2 InaF motif containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,224,767...19,290,520 JBrowse link
G INO80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,920,980...20,058,117
Ensembl chr15:38,170,982...38,307,311
JBrowse link
G INSYN1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,650,196...52,663,270
Ensembl chr15:71,405,502...71,418,269
JBrowse link
G INTS14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,521,277...44,552,780
Ensembl chr15:62,800,351...62,831,946
JBrowse link
G IQCH IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
JBrowse link
G IQGAP1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,076,025...69,190,082
Ensembl chr15:88,276,851...88,388,594
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
JBrowse link
G ISG20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,328,334...67,345,085
Ensembl chr15:86,536,647...86,553,751
JBrowse link
G ISL2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:55,250,837...55,257,775
Ensembl chr15:74,843,797...74,848,635
JBrowse link
G ISLR immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,112,206...53,115,367
Ensembl chr15:72,736,331...72,737,617
JBrowse link
G ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,066,685...53,075,324 JBrowse link
G ITGA11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,260,931...47,390,062
Ensembl chr15:66,031,201...66,128,985
JBrowse link
G ITPKA inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,434,532...20,444,389
Ensembl chr15:38,675,600...38,684,779
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,342,283...19,372,465
Ensembl chr15:37,596,688...37,609,902
JBrowse link
G KATNBL1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,650,139...12,719,655
Ensembl chr15:31,484,885...31,554,402
JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,016,331...44,019,797
Ensembl chr15:62,300,878...62,302,254
JBrowse link
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
JBrowse link
G KLHL25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:64,448,130...64,486,254
Ensembl chr15:83,670,090...83,671,859
JBrowse link
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,316,854...19,328,425 JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,069,069...42,089,329
Ensembl chr15:60,365,427...60,385,179
JBrowse link
G LARP6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:49,781,184...49,803,856
Ensembl chr15:68,547,937...68,552,899
JBrowse link
G LCMT2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,288,992...22,291,814
Ensembl chr15:40,444,633...40,446,693
JBrowse link
G LCTL lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,495,650...45,514,096
Ensembl chr15:63,769,946...63,787,409
JBrowse link
G LDHAL6B lactate dehydrogenase A like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488
JBrowse link
G LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,879,431...30,913,361
Ensembl chr15:49,208,132...49,241,055
JBrowse link
G LINC02694 long intergenic non-protein coding RNA 2694 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:17,625,792...17,629,200 JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:56,424,422...56,747,075
Ensembl chr15:72,328,079...72,347,016
JBrowse link
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LMAN1L lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,754,682...53,768,324
Ensembl chr15:73,373,160...73,386,050
JBrowse link
G LOC100981651 chromosome 15 C15orf54 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,194,424...18,195,749 JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
Ensembl chr15:39,476,302...39,528,820
JBrowse link
G LOC100987752 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782
JBrowse link
G LOC100988094 cytochrome c oxidase subunit 5A, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,860,721...53,878,699 JBrowse link
G LOC100991599 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,654,349...22,660,890 JBrowse link
G LOC117975990 golgin subfamily A member 8B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,895,442...12,917,196 JBrowse link
G LOC129392921 sodium/nucleoside cotransporter 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,551,499...63,613,461
Ensembl chr15:82,875,339...82,935,762
Ensembl chr15:82,875,339...82,935,762
JBrowse link
G LOXL1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,835,675...52,861,324 JBrowse link
G LPCAT4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,869,782...12,878,350
Ensembl chr15:31,704,297...31,712,779
JBrowse link
G LRRC49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:49,841,934...50,023,736
Ensembl chr15:68,589,175...68,769,334
JBrowse link
G LRRC57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,499,139...21,510,154
Ensembl chr15:39,659,387...39,666,068
JBrowse link
G LTK leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,444,471...20,455,586
Ensembl chr15:38,685,255...38,695,381
JBrowse link
G LYSMD2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,661,922...30,690,653 JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,595,318...69,614,255
Ensembl chr15:88,795,543...88,810,497
JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704
JBrowse link
G MAP1A microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,472,641...22,493,293
Ensembl chr15:40,627,099...40,647,752
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
JBrowse link
G MAPK6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,946,218...31,007,987
Ensembl chr15:49,273,095...49,335,754
JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,713,859...20,768,224 JBrowse link
G MEGF11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,836,750...45,208,674
Ensembl chr15:63,116,564...63,204,508
JBrowse link
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477
JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,959,985...59,970,904
Ensembl chr15:78,914,991...78,926,612
JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,470,528...68,473,209 JBrowse link
G MEX3B mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,025,026...61,029,324
Ensembl chr15:82,172,946...82,180,581
JBrowse link
G MFAP1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,764,678...22,784,934
Ensembl chr15:40,856,392...40,875,376
JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,587,360...67,602,029
Ensembl chr15:86,795,135...86,809,876
JBrowse link
G MGA MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847
JBrowse link
G MINAR1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,402,688...58,445,461
Ensembl chr15:77,361,433...77,402,124
JBrowse link
G MINDY2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,737,665...37,831,501
Ensembl chr15:56,047,970...56,134,203
JBrowse link
G MNS1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:35,377,490...35,433,871
Ensembl chr15:53,714,110...53,750,050
JBrowse link
G MORF4L1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,844,220...57,869,139
Ensembl chr15:76,772,007...76,829,259
JBrowse link
G MPI mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,832,088...53,841,832
Ensembl chr15:73,449,439...73,457,205
JBrowse link
G MRPL46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,151,616...67,159,521
Ensembl chr15:86,359,188...86,367,113
JBrowse link
G MRPS11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,159,746...67,172,891
Ensembl chr15:86,367,127...86,377,728
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206
JBrowse link
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,086,001...27,127,313
Ensembl chr15:45,412,593...45,443,600
JBrowse link
G MYO1E myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,246,192...31,470,040
Ensembl chr15:49,578,491...49,704,319
JBrowse link
G MYO5C myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,133,566...31,235,074
Ensembl chr15:49,459,741...49,549,752
JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
JBrowse link
G MYZAP myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,560,355...36,653,881
Ensembl chr15:54,873,644...54,997,202
JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,326,486...20,341,156
Ensembl chr15:38,569,731...38,583,872
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,798,880...34,963,823
Ensembl chr15:53,118,411...53,283,076
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
JBrowse link
G NEO1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
JBrowse link
G NGRN neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,954,039...68,960,612
Ensembl chr15:88,156,109...88,162,659
JBrowse link
G NMB neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,322,869...63,326,989 JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305
JBrowse link
G NOX5 NADPH oxidase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,961,085...48,003,529
Ensembl chr15:66,734,521...66,777,037
JBrowse link
G NPTN neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,470,545...52,544,046
Ensembl chr15:71,229,992...71,269,579
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
JBrowse link
G NRG4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,849,104...54,972,379
Ensembl chr15:74,449,691...74,518,748
JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chr 8:121,777,986...122,052,094
Ensembl chr 8:124,529,268...124,803,114
JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204
JBrowse link
G NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695
JBrowse link
G NUTM1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,852,280...12,868,873
Ensembl chr15:31,686,443...31,703,128
JBrowse link
G OAZ2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,629,712...43,645,426
Ensembl chr15:61,919,532...61,933,821
JBrowse link
G OIP5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,250,339...20,273,856
Ensembl chr15:38,494,534...38,517,300
JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:31,694,830...31,727,644
Ensembl chr15:50,016,010...50,053,062
JBrowse link
G PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,173,171...19,211,572
Ensembl chr15:37,453,802...37,465,119
JBrowse link
G PAK6-AS1 PAK6 antisense RNA 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,184,775...19,187,261 JBrowse link
G PAQR5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:48,248,552...48,357,205
Ensembl chr15:67,082,077...67,127,765
JBrowse link
G PARP16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,163,785...44,231,895
Ensembl chr15:62,485,144...62,513,722
JBrowse link
G PARP6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,191,718...51,223,312
Ensembl chr15:69,955,568...69,987,061
JBrowse link
G PATL2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,622,330...23,667,962
Ensembl chr15:41,790,682...41,801,825
JBrowse link
G PCLAF PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,311,115...43,331,979
Ensembl chr15:61,602,830...61,617,303
JBrowse link
G PDCD7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,057,667...44,073,812 JBrowse link
G PDE8A phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,649,336...63,805,613
Ensembl chr15:82,971,986...83,127,957
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763
JBrowse link
G PEAK1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:56,038,568...56,348,118 JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,375,201...68,384,440
Ensembl chr15:87,581,564...87,590,684
JBrowse link
G PGBD4 piggyBac transposable element derived 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,611,489...12,617,110 JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,379,792...34,390,023
Ensembl chr15:52,702,057...52,712,290
JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,756,605...43,766,631
Ensembl chr15:62,041,461...62,052,311
JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797
JBrowse link
G PKM pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832
JBrowse link
G PLA2G4D phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,021,875...21,048,848
Ensembl chr15:39,182,100...39,208,996
JBrowse link
G PLA2G4E phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,937,573...20,975,388
Ensembl chr15:39,095,777...39,165,161
JBrowse link
G PLA2G4F phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,095,474...21,110,983
Ensembl chr15:39,253,819...39,271,482
JBrowse link
G PLCB2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,218,329...19,241,977
Ensembl chr15:37,476,699...37,496,813
JBrowse link
G PLEKHO2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,782,812...43,808,969
Ensembl chr15:62,052,563...62,093,865
JBrowse link
G PLIN1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,357,815...68,375,062
Ensembl chr15:87,565,468...87,577,301
JBrowse link
G PML PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POLR2M RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:36,674,521...36,685,343
Ensembl chr15:54,873,644...54,997,202
JBrowse link
G PPCDC phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,963,001...54,001,550
Ensembl chr15:73,579,583...73,606,834
JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,108,139...43,115,470
Ensembl chr15:61,400,272...61,406,758
JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,495,159...22,553,264 JBrowse link
G PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,756,077...19,786,920
Ensembl chr15:38,007,632...38,022,094
JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
JBrowse link
G PRTG protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,579,267...34,715,039
Ensembl chr15:52,910,486...53,032,562
JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,468,590...57,477,390
Ensembl chr15:76,431,890...76,440,655
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 Ensembl chr15:75,533,114...75,552,365 JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204
JBrowse link
G PYGO1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,509,787...34,556,686
Ensembl chr15:52,838,651...52,879,630
JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984
JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,136,776...42,214,792
Ensembl chr15:60,432,749...60,510,547
JBrowse link
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207
JBrowse link
G RAMAC RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,613,027...62,617,863
Ensembl chr15:80,876,487...80,881,337
JBrowse link
G RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,933,152...58,063,824
Ensembl chr15:76,891,556...77,022,534
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:17,417,684...17,494,333
Ensembl chr15:35,675,348...35,750,315
JBrowse link
G RASL12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,992,879...44,007,564
Ensembl chr15:62,277,131...62,300,660
JBrowse link
G RBPMS2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,682,513...43,718,330
Ensembl chr15:61,970,407...61,981,958
JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,648,220...69,682,408
Ensembl chr15:88,847,116...88,852,057
JBrowse link
G RCN2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:55,857,130...55,875,365
Ensembl chr15:75,445,908...75,463,947
JBrowse link
G REC114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,357,979...52,470,811
Ensembl chr15:71,116,084...71,228,098
JBrowse link
G RFX7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:35,057,195...35,211,897
Ensembl chr15:53,376,869...53,527,541
JBrowse link
G RHCG Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,165,708...68,190,964
Ensembl chr15:87,372,238...87,397,011
JBrowse link
G RHOV ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,814,817...19,816,925
Ensembl chr15:38,064,587...38,066,873
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
JBrowse link
G RMDN3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,676,789...19,696,297
Ensembl chr15:37,929,628...37,947,856
JBrowse link
G RNF111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,957,390...38,068,006
Ensembl chr15:56,265,379...56,374,484
JBrowse link
G RORA RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:39,461,553...40,200,118
Ensembl chr15:57,771,735...57,980,460
JBrowse link
G RPAP1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,457,993...20,485,371
Ensembl chr15:38,698,454...38,724,730
JBrowse link
G RPL4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,446,582...45,452,173
Ensembl chr15:63,721,912...63,727,477
JBrowse link
G RPLP1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:48,403,415...48,406,149
Ensembl chr15:67,173,832...67,176,570
JBrowse link
G RPP25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,895,547...53,897,922
Ensembl chr15:73,513,375...73,513,974
JBrowse link
G RPS17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,056,604...63,060,436 JBrowse link
G RPS27L ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,101,137...42,105,019
Ensembl chr15:60,397,131...60,400,643
JBrowse link
G RPUSD2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,514,711...19,519,752
Ensembl chr15:37,767,822...37,772,857
JBrowse link
G RSL24D1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:34,152,671...34,168,532 JBrowse link
G RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,355,927...20,424,153
Ensembl chr15:38,599,163...38,662,100
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494
JBrowse link
G SAXO2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,243,727...61,265,885 JBrowse link
G SCAMP2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,786,314...53,816,203
Ensembl chr15:73,404,173...73,434,025
JBrowse link
G SCAMP5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,935,756...53,961,611
Ensembl chr15:73,565,906...73,577,524
JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:55,263,970...55,830,877
Ensembl chr15:74,855,612...75,377,042
JBrowse link
G SCG3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,619,990...30,658,668
Ensembl chr15:48,950,839...48,989,481
JBrowse link
G SCG5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:11,136,920...11,192,606
Ensembl chr15:29,974,633...30,030,291
JBrowse link
G SEC11A SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,337,266...63,384,532 JBrowse link
G SECISBP2L SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,937,192...28,033,830
Ensembl chr15:46,260,387...46,318,036
JBrowse link
G SEMA4B semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,873,927...68,918,792
Ensembl chr15:88,076,399...88,120,729
JBrowse link
G SEMA6D semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:26,135,344...26,725,571
Ensembl chr15:44,994,073...45,050,169
JBrowse link
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,351,662...53,376,327
Ensembl chr15:72,972,475...72,996,953
JBrowse link
G SENP8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,069,863...51,092,561
Ensembl chr15:69,854,934...69,855,572
JBrowse link
G SERF2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,752,018...22,754,220 JBrowse link
G SERINC4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,755,169...22,760,184
Ensembl chr15:40,845,167...40,850,960
JBrowse link
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,021,217...57,031,176 JBrowse link
G SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:61,988,584...62,153,543
Ensembl chr15:81,337,529...81,501,770
JBrowse link
G SHC4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,773,442...27,913,790
Ensembl chr15:46,098,526...46,236,533
JBrowse link
G SHF Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,100,832...24,146,702
Ensembl chr15:42,469,202...42,500,239
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
JBrowse link
G SKIC8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:57,204,199...57,229,052
Ensembl chr15:76,175,131...76,194,368
JBrowse link
G SKOR1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,722,712...46,787,689 JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,552,886...44,597,640
Ensembl chr15:62,831,987...62,882,431
JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:27,069,937...27,091,619
Ensembl chr15:45,394,090...45,415,823
JBrowse link
G SLC27A2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,130,262...29,182,752
Ensembl chr15:47,452,227...47,505,066
JBrowse link
G SLC28A2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,199,846...24,223,378
Ensembl chr15:42,554,142...42,578,096
JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,425,816...24,469,085
Ensembl chr15:42,758,455...42,798,815
JBrowse link
G SLC51B SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,988,512...43,992,939
Ensembl chr15:62,268,738...62,277,160
JBrowse link
G SLTM SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:37,848,629...37,903,221
Ensembl chr15:56,158,460...56,211,695
JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154
JBrowse link
G SNAP23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,456,247...21,494,340
Ensembl chr15:39,612,445...39,650,759
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420
JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,508,586...54,536,301
Ensembl chr15:74,102,753...74,126,511
JBrowse link
G SNX1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,048,974...43,096,544
Ensembl chr15:61,340,352...61,382,700
JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,103,990...43,109,802
Ensembl chr15:61,396,185...61,401,937
JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,556,304...54,570,683
Ensembl chr15:74,151,053...74,159,584
JBrowse link
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,971,017...24,025,043 JBrowse link
G SPESP1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:47,775,405...47,902,786
Ensembl chr15:66,651,277...66,667,511
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,902,865...43,929,663
Ensembl chr15:62,187,767...62,213,741
JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,786,621...19,800,297
Ensembl chr15:38,036,638...38,050,303
JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,660,190...29,718,477
Ensembl chr15:47,997,304...48,055,239
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:17,182,976...17,286,566
Ensembl chr15:35,439,762...35,536,565
JBrowse link
G SPTBN5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,789,568...20,839,907 JBrowse link
G SQOR sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:24,575,863...24,636,798
Ensembl chr15:42,908,532...42,965,538
JBrowse link
G SRP14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,973,826...18,976,946
Ensembl chr15:37,229,658...37,232,729
JBrowse link
G STARD5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:60,299,309...60,310,602
Ensembl chr15:79,254,424...79,265,673
JBrowse link
G STARD9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,537,229...21,681,651
Ensembl chr15:39,692,013...39,836,032
JBrowse link
G STOML1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,892,400...52,903,812
Ensembl chr15:71,647,380...71,656,369
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,117,891...53,150,790
Ensembl chr15:72,741,482...72,770,876
JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,562,313...22,633,064
Ensembl chr15:40,769,539...40,795,723
Ensembl chr15:40,769,539...40,795,723
JBrowse link
G TBC1D21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:52,783,013...52,798,656
Ensembl chr15:71,538,363...71,553,960
JBrowse link
G TBC1D2B TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:56,923,368...57,006,708
Ensembl chr15:75,874,740...75,972,020
JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:35,885,421...36,257,632
Ensembl chr15:54,202,862...54,570,440
JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,904,880...23,927,325 JBrowse link
G TEX9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:35,211,936...35,428,547
Ensembl chr15:53,649,547...53,713,721
JBrowse link
G TGM5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,193,639...22,227,977
Ensembl chr15:40,349,085...40,382,737
JBrowse link
G TGM7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,237,315...22,263,527
Ensembl chr15:40,392,135...40,409,516
JBrowse link
G THAP10 THAP domain containing 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:49,830,820...49,841,919
Ensembl chr15:68,597,315...68,608,402
JBrowse link
G THBS1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:50,067,560...50,732,761
Ensembl chr15:68,859,819...69,491,696
JBrowse link
G TICRR TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,270,029...68,322,201
Ensembl chr15:87,476,738...87,528,870
JBrowse link
G TIPIN TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,290,350...45,310,335
Ensembl chr15:63,566,463...63,585,717
JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:49,000,145...49,050,246
Ensembl chr15:67,770,176...67,817,320
JBrowse link
G TLN2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:41,337,084...41,790,949
Ensembl chr15:59,892,920...60,088,414
JBrowse link
G TLNRD1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,981,991...59,985,055 JBrowse link
G TM6SF1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,467,207...62,498,060
Ensembl chr15:80,995,993...81,025,503
JBrowse link
G TMC3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:60,318,800...60,359,642
Ensembl chr15:79,273,709...79,314,223
JBrowse link
G TMCO5A transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:16,864,593...16,897,708 JBrowse link
G TMED3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:58,280,282...58,355,677
Ensembl chr15:77,237,664...77,313,574
JBrowse link
G TMEM202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:51,347,032...51,357,008
Ensembl chr15:70,111,035...70,120,598
JBrowse link
G TMEM266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,972,048...55,117,865
Ensembl chr15:74,638,076...74,708,901
JBrowse link
G TMEM62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,091,408...22,146,419
Ensembl chr15:40,248,952...40,301,280
JBrowse link
G TMEM87A transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,164,958...21,227,644
Ensembl chr15:39,325,412...39,386,297
JBrowse link
G TMOD2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,690,641...30,757,960
Ensembl chr15:49,035,929...49,079,570
JBrowse link
G TNFAIP8L3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:30,008,024...30,046,021
Ensembl chr15:48,343,714...48,390,020
JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,364,696...22,472,499
Ensembl chr15:40,519,012...40,626,741
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:23,691,927...23,724,349
Ensembl chr15:41,861,525...41,893,069
JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,332,107...43,400,522
Ensembl chr15:61,623,584...61,692,963
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,513,220...29,639,506
Ensembl chr15:47,853,187...47,977,451
JBrowse link
G TSPAN3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:55,976,231...56,001,345
Ensembl chr15:75,564,473...75,574,697
JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,699,674...21,877,481
Ensembl chr15:39,861,102...40,034,982
JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,332,076...22,371,360
Ensembl chr15:40,486,665...40,522,996
JBrowse link
G TYRO3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:20,499,789...20,520,152
Ensembl chr15:38,739,509...38,760,288
JBrowse link
G UACA uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:49,607,308...49,711,188
Ensembl chr15:68,375,939...68,477,395
JBrowse link
G UBAP1L ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:44,033,064...44,047,056 JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:54,754,642...54,814,264
Ensembl chr15:74,348,034...74,407,411
JBrowse link
G UBL7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,388,333...53,403,617
Ensembl chr15:73,008,913...73,024,208
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725
JBrowse link
G ULK3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:53,778,676...53,785,754
Ensembl chr15:73,396,341...73,403,362
JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:32,914,784...33,563,610 JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502
JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:42,450,782...42,541,162
Ensembl chr15:60,746,406...60,830,535
JBrowse link
G USP50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,450,804...29,500,515
Ensembl chr15:47,790,100...47,839,619
JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624
JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:40,819,512...41,020,644
Ensembl chr15:59,119,001...59,319,619
JBrowse link
G VPS18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,836,707...19,846,231
Ensembl chr15:38,086,518...38,095,835
JBrowse link
G VPS39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,113,047...21,162,738
Ensembl chr15:39,273,546...39,323,196
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853
JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
JBrowse link
G WDR76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,786,956...22,828,496
Ensembl chr15:40,877,721...40,918,519
JBrowse link
G WDR93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,384,395...68,434,212
Ensembl chr15:87,590,676...87,639,820
JBrowse link
G WHAMM WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:62,763,534...62,788,639
Ensembl chr15:80,706,760...80,730,006
JBrowse link
G ZFAND6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:59,023,678...59,107,270
Ensembl chr15:78,048,571...78,115,098
JBrowse link
G ZFYVE19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:19,747,606...19,755,185
Ensembl chr15:37,999,283...38,006,744
JBrowse link
G ZNF106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:21,372,911...21,452,149
Ensembl chr15:39,533,822...39,608,427
JBrowse link
G ZNF280D zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:35,597,057...35,700,187
Ensembl chr15:53,914,597...53,989,022
JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
JBrowse link
G ZNF609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:43,405,805...43,628,201
Ensembl chr15:61,735,706...61,912,212
JBrowse link
G ZNF710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:68,688,203...68,770,188
Ensembl chr15:87,956,415...87,971,119
JBrowse link
G ZNF770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:13,897,020...13,907,460
Ensembl chr15:32,158,176...32,160,251
JBrowse link
G ZNF774 zinc finger protein 774 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:69,039,595...69,050,747
Ensembl chr15:88,241,732...88,251,483
JBrowse link
G ZSCAN2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:63,268,141...63,291,499
Ensembl chr15:82,595,450...82,614,776
JBrowse link
G ZSCAN29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:22,322,316...22,331,662
Ensembl chr15:40,476,956...40,486,653
JBrowse link
G ZWILCH zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr15:45,452,382...45,496,780
Ensembl chr15:63,727,562...63,771,213
JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G COL4A2 collagen type IV alpha 2 chain 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 More... NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
JBrowse link
G LOC117975672 COL4A2 antisense RNA 2 ISO ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: Porencephaly 2 ClinVar PMID:16199547 PMID:22209246 PMID:22209247 PMID:22333902 PMID:24001601 More... NCBI chr13:91,593,477...91,600,562 JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar
PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr15:19,466,344...19,510,553
Ensembl chr15:37,726,474...37,763,602
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr  X:125,424,181...125,546,128
Ensembl chr  X:135,694,869...135,812,388
JBrowse link
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 More... NCBI chr  X:125,794,158...125,909,809
Ensembl chr  X:136,058,879...136,176,110
JBrowse link
G BRS3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:125,617,592...125,623,411
Ensembl chr  X:135,883,613...135,888,069
JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G 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 More... NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
JBrowse link
G 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 More... NCBI chr  X:125,270,340...125,334,961
Ensembl chr  X:135,559,321...135,602,375
JBrowse link
G 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 More... NCBI chr  X:126,149,803...126,159,844
Ensembl chr  X:136,418,522...136,420,048
JBrowse link
G HIVEP2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 6:140,518,954...140,712,849
Ensembl chr 6:145,240,914...145,328,850
JBrowse link
G 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 More... NCBI chr  X:125,626,714...125,641,988
Ensembl chr  X:135,892,697...135,910,919
JBrowse link
G MAP7D3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:125,337,678...125,375,182
Ensembl chr  X:135,605,208...135,646,956
JBrowse link
G 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 More... NCBI chr  X:125,997,989...126,009,525
Ensembl chr  X:136,264,406...136,275,360
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315
JBrowse link
G SLC9A6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM
ClinVar
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:125,099,378...125,171,161
Ensembl chr  X:135,378,094...135,439,781
JBrowse link
G 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 More... NCBI chr  X:125,660,337...125,685,373
Ensembl chr  X:135,926,371...135,951,303
JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:126,691,534...126,705,788
Ensembl chr  X:136,954,024...136,967,819
JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396
JBrowse link
G ASB7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,328,868...79,378,039
Ensembl chr15:98,616,797...98,666,094
JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,901,340...79,976,067
Ensembl chr15:99,186,705...99,260,591
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
JBrowse link
G LRRC28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,932,476...78,069,106
Ensembl chr15:97,117,104...97,250,570
JBrowse link
G LRRK1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,642,908...79,793,990
Ensembl chr15:98,931,344...99,081,168
JBrowse link
G LYSMD4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,396,860...78,413,774
Ensembl chr15:97,590,076...97,596,035
JBrowse link
G MEF2A myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092
JBrowse link
G PGPEP1L pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,651,265...77,791,570
Ensembl chr15:96,836,590...96,839,587
JBrowse link
G SYNM synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,790,447...77,821,317
Ensembl chr15:96,975,160...97,002,412
JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,821,847...77,932,769
Ensembl chr15:97,005,675...97,116,569
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr17:25,843,447...25,869,874 JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 1:123,070,751...123,114,327
Ensembl chr 1:112,417,138...112,459,176
JBrowse link
G BCL9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 1:122,982,604...123,067,299
Ensembl chr 1:112,463,904...112,478,264
JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219
JBrowse link
G FMO5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 1:122,605,677...122,648,325
Ensembl chr 1:112,881,859...112,921,194
JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 1:123,352,801...123,355,625
Ensembl chr 1:112,174,365...112,177,893
JBrowse link
G PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 1:122,577,308...122,595,083
Ensembl chr 1:112,934,877...112,952,364
JBrowse link
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar
PMID:25741868 PMID:34077761 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome OMIM
ClinVar
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,375,414...2,392,423 JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477
JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,151,126...97,203,196
Ensembl chr 8:99,322,930...99,376,251
JBrowse link
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,521,146...99,725,603
Ensembl chr 8:101,832,538...101,883,956
JBrowse link
G AZIN1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604
JBrowse link
G BAALC BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,796,292...99,942,112
Ensembl chr 8:101,950,095...102,041,388
JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,027,417...100,038,945
Ensembl chr 8:102,182,944...102,194,445
JBrowse link
G DCAF13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,070,628...100,098,885
Ensembl chr 8:102,226,116...102,254,900
JBrowse link
G DCSTAMP dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,967,757...100,985,384
Ensembl chr 8:103,121,332...103,138,223
JBrowse link
G DPYS dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,008,090...101,096,234
Ensembl chr 8:103,160,922...103,248,303
JBrowse link
G FBXO43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,774,246...96,786,933
Ensembl chr 8:98,948,145...98,960,382
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,954,523...99,989,153
Ensembl chr 8:102,110,317...102,144,363
JBrowse link
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,129,147...98,308,120
Ensembl chr 8:100,308,575...100,471,830
JBrowse link
G KCNS2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:95,070,460...95,078,405
Ensembl chr 8:97,251,481...97,252,914
JBrowse link
G KLF10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,302,943...99,310,099
Ensembl chr 8:101,462,915...101,469,982
JBrowse link
G LOC100994763 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,525,872...96,541,578
Ensembl chr 8:98,700,724...98,716,662
JBrowse link
G LRP12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,118,465...101,218,272
Ensembl chr 8:103,271,889...103,369,552
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752
JBrowse link
G NCALD neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,324,885...98,767,804
Ensembl chr 8:100,488,400...100,520,842
JBrowse link
G NIPAL2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:94,826,325...94,938,586
Ensembl chr 8:97,013,882...97,118,281
JBrowse link
G ODF1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,206,018...99,216,111
Ensembl chr 8:101,366,611...101,376,030
JBrowse link
G OSR2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:95,590,753...95,598,491
Ensembl chr 8:97,768,980...97,776,669
JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,346,433...97,365,628
Ensembl chr 8:99,518,347...99,537,614
JBrowse link
G POLR2K RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,791,485...96,794,913
Ensembl chr 8:98,965,837...98,969,221
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328
JBrowse link
G RGS22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,601,282...96,747,195
Ensembl chr 8:98,775,639...98,920,786
JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,156,403...100,894,128 JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,897,388...96,950,440
Ensembl chr 8:99,070,813...99,123,495
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
JBrowse link
G SLC25A32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,054,560...100,071,016
Ensembl chr 8:102,210,068...102,226,732
JBrowse link
G SNX31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,216,289...97,293,064
Ensembl chr 8:99,389,362...99,465,796
JBrowse link
G SPAG1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:96,798,887...96,882,982
Ensembl chr 8:98,977,469...99,054,849
JBrowse link
G STK3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:95,098,185...95,465,324
Ensembl chr 8:97,355,173...97,708,437
JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM
ClinVar
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,560,251...97,595,117
Ensembl chr 8:99,730,393...99,762,990
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688
JBrowse link
G ZNF706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:97,835,750...97,845,132
Ensembl chr 8:100,004,227...100,012,127
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
JBrowse link
Complex Cortical Dysplasia with Other Brain Malformations 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:31585108
Complex Cortical Dysplasia with Other Brain Malformations 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr14:84,762,903...84,807,440
Ensembl chr14:104,570,327...104,611,245
JBrowse link
Complex Cortical Dysplasia with Other Brain Malformations 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911
JBrowse link
complex cortical dysplasia with other brain malformations 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5C kinesin family member 5C ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 OMIM
ClinVar
PMID:23033978 PMID:23603762 PMID:24088041 PMID:24812067 PMID:25741868 More... NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
JBrowse link
complex cortical dysplasia with other brain malformations 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF2A kinesin family member 2A ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 3 OMIM
ClinVar
PMID:23603762 PMID:25741868 PMID:27747449 PMID:28492532 NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
JBrowse link
complex cortical dysplasia with other brain malformations 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBG1 tubulin gamma 1 ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 4 OMIM
ClinVar
PMID:23603762 PMID:25741868 PMID:28492532 NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
JBrowse link
complex cortical dysplasia with other brain malformations 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB2A tubulin beta 2A class IIa ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 | ClinVar Annotator: match by term: TUBB2A-related condition OMIM
ClinVar
PMID:24702957 PMID:25326637 PMID:25741868 PMID:27770045 PMID:28492532 More... NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
JBrowse link
complex cortical dysplasia with other brain malformations 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6 OMIM
ClinVar
PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr 6:30,465,367...30,470,451 JBrowse link
Complex Cortical Dysplasia with Other Brain Malformations 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2A:79,594,694...80,745,885
Ensembl chr2A:81,303,559...82,307,258
JBrowse link
G LRRTM1 leucine rich repeat transmembrane neuronal 1 ISO ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 ClinVar NCBI chr2A:80,376,582...80,392,899
Ensembl chr2A:81,953,891...81,955,459
JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G 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 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359
JBrowse link
G 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 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982
JBrowse link
G 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 More... NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
JBrowse link
G 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 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320
JBrowse link
G 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 7:17,193,531...17,229,769
Ensembl chr 7:16,443,703...16,448,076
Ensembl chr 7:16,443,703...16,448,076
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G 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 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
JBrowse link
G 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 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
G 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 More... NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G 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 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
JBrowse link
G 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 More... NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G 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 More... NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
JBrowse link
G 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 chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
JBrowse link
G 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 chr 8:42,388,406...42,448,466 JBrowse link
G 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 chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043
JBrowse link
G 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 More... NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
JBrowse link
G 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 chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163
JBrowse link
G 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 chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
JBrowse link
G 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 chr11:61,868,257...61,892,473
Ensembl chr11:65,192,355...65,216,274
JBrowse link
G 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 chr11:61,703,021...61,710,784
Ensembl chr11:65,028,407...65,036,163
JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,836,463...61,867,303
Ensembl chr11:65,161,892...65,191,398
JBrowse link
G 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 chr11:61,793,509...61,796,539
Ensembl chr11:65,117,818...65,120,915
JBrowse link
G 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 chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825
JBrowse link
G 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 chr11:61,824,463...61,834,930
Ensembl chr11:65,148,441...65,159,211
JBrowse link
G 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 chr11:61,697,751...61,702,501
Ensembl chr11:65,023,138...65,027,605
JBrowse link
G 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 chr11:61,728,204...61,738,174
Ensembl chr11:65,054,041...65,063,540
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G 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 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr22:14,077,463...14,929,250 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
JBrowse link
G 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 3:42,710,724...42,772,396
Ensembl chr 3:43,788,312...43,835,453
JBrowse link
G 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 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
G 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 3:42,615,424...42,680,102
Ensembl chr 3:43,679,176...43,743,463
JBrowse link
G 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 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396
JBrowse link
G 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 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G 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 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
JBrowse link
G 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
G HHATL hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,600,209...42,610,540
Ensembl chr 3:43,664,271...43,674,486
JBrowse link
G HIGD1A HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,692,771...42,710,654
Ensembl chr 3:43,754,154...43,773,460
JBrowse link
G 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 3:42,592,977...42,600,100
Ensembl chr 3:43,657,128...43,664,055
JBrowse link
G 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 3:42,840,198...42,846,633
Ensembl chr 3:43,904,935...43,908,914
Ensembl chr 3:43,904,935...43,908,914
JBrowse link
G 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 3:42,302,237...42,378,700
Ensembl chr 3:42,565,535...42,579,033
JBrowse link
G 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 3:42,506,135...42,556,343
Ensembl chr 3:43,571,457...43,617,801
JBrowse link
G 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 More... NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
JBrowse link
G 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 3:42,452,946...42,506,666
Ensembl chr 3:42,715,553...42,736,927
JBrowse link
G 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 3:43,179,640...43,244,364
Ensembl chr 3:44,244,453...44,305,648
JBrowse link
G 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 3:42,487,389...42,500,908
Ensembl chr 3:43,552,858...43,565,681
JBrowse link
G 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 3:41,920,678...42,135,881
Ensembl chr 3:42,262,630...42,399,068
JBrowse link
G 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 3:41,152,261...41,864,865
Ensembl chr 3:41,568,907...42,121,959
JBrowse link
G 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 3:42,407,591...42,442,565
Ensembl chr 3:42,670,195...42,705,170
JBrowse link
G 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 3:42,560,887...42,573,752
Ensembl chr 3:43,629,405...43,639,232
JBrowse link
G ZNF662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,809,150...42,823,194
Ensembl chr 3:43,872,164...43,883,699
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 3:51,315,948...51,320,022
Ensembl chr 3:52,548,933...52,554,343
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 5:137,305,110...137,324,879
Ensembl chr 5:143,414,064...143,429,540
JBrowse link
G 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 More... NCBI chr 5:137,316,493...137,351,061
Ensembl chr 5:143,441,497...143,461,355
JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar
PMID:25741868 PMID:33547280 NCBI chr17:7,341,076...7,346,570
Ensembl chr17:7,327,363...7,333,270
JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100995589 uncharacterized LOC100995589 ISO ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome ClinVar PMID:16906565 PMID:18470948 PMID:20301770 PMID:21224895 PMID:25741868 More... NCBI chr2A:15,923,366...15,926,680 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome ClinVar PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 More... NCBI chr2A:15,925,130...15,931,605 JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100995589 uncharacterized LOC100995589 ISO ClinVar Annotator: match by term: MYCN-related condition ClinVar PMID:25741868 PMID:30573562 NCBI chr2A:15,923,366...15,926,680 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar
PMID:25741868 PMID:30573562 NCBI chr2A:15,925,130...15,931,605 JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CKAP2L cytoskeleton associated protein 2 like ISO ClinVar Annotator: match by term: Filippi syndrome OMIM
ClinVar
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr2A:89,293,727...89,322,182
Ensembl chr2A:113,747,536...113,775,619
JBrowse link
G NT5DC4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:89,315,647...89,336,907
Ensembl chr2A:113,732,812...113,753,637
JBrowse link
Focal Cortical Dysplasia of Taylor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Focal cortical dysplasia type 2 OMIM
ClinVar
PMID:9536098 PMID:17360675 PMID:17576681 PMID:20190810 PMID:23636326 More... NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G 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 OMIM
ClinVar
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II OMIM
ClinVar
PMID:9536098 PMID:9829910 PMID:10205261 PMID:10533066 PMID:10533067 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
G 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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related OMIM
ClinVar
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201
JBrowse link
G LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888
JBrowse link
G TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497
JBrowse link
G TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271
JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
JBrowse link
G WDR73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
JBrowse link
G ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENG endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G 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 More... NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833
JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904
JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H1orf122 chromosome 1 C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 1:37,082,486...37,084,170 JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar
PMID:31481669 PMID:34545459 NCBI chr 1:37,077,653...37,082,929 JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746
JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar
PMID:25741868 PMID:31481669 NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201
JBrowse link
Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 ISO protein:altered expression:neocortex (human) RGD PMID:22759905 RGD:11560525 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G 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 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G 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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G RHEB Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:30414531 NCBI chr 7:143,054,747...143,108,011 JBrowse link
G RPS6 ribosomal protein S6 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722
JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 1:88,652,196...88,662,237
Ensembl chr 1:123,701,343...123,711,481
JBrowse link
G 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 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403
JBrowse link
G 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 More... NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G 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 Ensembl chr20:61,581,331...61,618,718 JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly OMIM
ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 More... NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913
JBrowse link
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 7:97,447,332...97,512,812
Ensembl chr 7:110,177,284...110,243,923
JBrowse link
Intellectual Developmental Disorder with Autism and Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361
JBrowse link
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:45,883,122...46,074,805
Ensembl chr11:46,374,675...46,564,358
JBrowse link
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay ClinVar PMID:25741868 NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107
JBrowse link
G 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 More... NCBI chr11:72,372,577...72,524,817
Ensembl chr11:76,015,998...76,104,197
JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:27,049,858...27,080,396
Ensembl chr 8:24,251,557...24,284,001
JBrowse link
G 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 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
G 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:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999
JBrowse link
G 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:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602
JBrowse link
G 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:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G 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:143,484,008...143,489,904 JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214
JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,711,495...143,736,128 JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587
JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type OMIM
ClinVar
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
JBrowse link
G 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 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr19:36,597,420...36,607,021 JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia OMIM
ClinVar
PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940
JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar
PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:67,082,551...67,088,492
Ensembl chr  X:77,194,757...77,200,532
JBrowse link
lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
JBrowse link
G ARX aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:17,598,858...17,612,544 JBrowse link
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
JBrowse link
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G 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 chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
JBrowse link
G CTNNA2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr2A:79,594,694...80,745,885
Ensembl chr2A:81,303,559...82,307,258
JBrowse link
G DAG1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
G DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
G 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 More... NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr 1:176,569,305...176,623,403
Ensembl chr 1:180,872,306...180,925,725
JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
JBrowse link
G LOC112438684 mitotic-spindle organizing protein 2B ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr2B:28,467,686...28,476,354 JBrowse link
G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
JBrowse link
G 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 More... Ensembl chr16:16,007,168...16,091,058 JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... Ensembl chr16:15,948,881...16,027,986 JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly
RGD
ClinVar
PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 PMID:9817918 More... RGD:11073221 NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
G 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 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
JBrowse link
G 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 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630
JBrowse link
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr 6:30,465,367...30,470,451 JBrowse link
G TUBG1 tubulin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
JBrowse link
lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
JBrowse link
G 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 More... NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
lissencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
JBrowse link
lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
JBrowse link
G 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 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 Ensembl chr16:16,007,168...16,091,058 JBrowse link
G 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 More... Ensembl chr16:15,948,881...16,027,986 JBrowse link
lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
JBrowse link
G 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 More... NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
JBrowse link
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KATNB1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly OMIM
ClinVar
PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr16:38,011,804...38,034,015
Ensembl chr16:57,143,472...57,165,426
JBrowse link
lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
JBrowse link
lissencephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630
JBrowse link
lissencephaly 9 with complex brainstem malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
Lowry Wood Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
JBrowse link
Luscan-Lumish Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF9 kinesin family member 9 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
JBrowse link
G KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
JBrowse link
Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G 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 More... NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
JBrowse link
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:32267004 NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:24033266 PMID:28492532 NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635
JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808
JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:26660953 NCBI chr11:61,244,175...61,248,805
Ensembl chr11:64,573,537...64,578,328
JBrowse link
G FOXO4 forkhead box O4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr  X:60,364,466...60,372,147
Ensembl chr  X:70,422,504...70,429,971
JBrowse link
G 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 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948
JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr12:4,926,069...4,968,475
Ensembl chr12:4,847,510...4,849,099
JBrowse link
G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
JBrowse link
G MORC4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr  X:96,040,992...96,100,570
Ensembl chr  X:106,418,348...106,472,561
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 PMID:33077954 PMID:34197453 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 1:60,331,945...60,713,729
Ensembl chr 1:61,938,945...62,526,753
JBrowse link
G NFIB nuclear factor I B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30388402 NCBI chr 9:13,923,516...14,376,264 JBrowse link
G 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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G RAB5IF RAB5 interacting factor ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:24194475 PMID:35614220 NCBI chr20:32,938,953...32,945,648
Ensembl chr20:34,059,109...34,065,624
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
JBrowse link
G TBC1D7 TBC1 domain family member 7 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 6:13,150,677...13,174,661
Ensembl chr 6:13,491,734...13,546,853
JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30977854 PMID:36047296 NCBI chr 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187
JBrowse link
G USP7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr16:7,825,332...7,895,095
Ensembl chr16:9,065,858...9,106,146
JBrowse link
G WDFY3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:31327001 NCBI chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
JBrowse link
G ZNF526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr19:39,108,454...39,115,200 JBrowse link
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies OMIM
ClinVar
PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
JBrowse link
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 9:13,923,516...14,376,264 JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIN2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS OMIM
ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr20:19,716,071...19,960,598
Ensembl chr20:19,811,284...19,924,256
JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERC1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr12:1,066,034...1,597,562
Ensembl chr12:1,027,967...1,545,431
JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation OMIM
ClinVar
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
JBrowse link
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr19:3,066,554...3,090,285 JBrowse link
macrocephaly-autism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr10:84,581,971...84,587,420 JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome OMIM
ClinVar
PMID:1336932 PMID:2338203 PMID:9140396 PMID:9241266 PMID:9259288 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 6:13,150,677...13,174,661
Ensembl chr 6:13,491,734...13,546,853
JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM
ClinVar
PMID:16199547 PMID:16760738 PMID:19334086 PMID:22305528 PMID:22541558 More... NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
JBrowse link
Megalencephaly - Cutis Marmorata Telangiectatica Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G 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 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G 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 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
JBrowse link
G 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 More... NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:24469055 PMID:25741868 PMID:28492532 NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
JBrowse link
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100995589 uncharacterized LOC100995589 ISO ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome ClinVar PMID:25741868 PMID:30573562 NCBI chr2A:15,923,366...15,926,680 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome ClinVar
OMIM
PMID:25741868 PMID:30573562 NCBI chr2A:15,925,130...15,931,605 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME ClinVar PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,471,692...18,497,896
Ensembl chr19:19,474,320...19,498,511
JBrowse link
G ARRDC2 arrestin domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,480,879...17,491,851
Ensembl chr19:18,461,626...18,469,079
JBrowse link
G BORCS8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,615,221...18,630,230
Ensembl chr19:19,617,791...19,632,239
JBrowse link
G CCDC124 coiled-coil domain containing 124 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,412,778...17,423,756
Ensembl chr19:18,386,017...18,397,647
JBrowse link
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487
JBrowse link
G COMP cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,222,270...18,230,936
Ensembl chr19:19,229,562...19,238,008
JBrowse link
G COPE COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,337,678...18,357,399
Ensembl chr19:19,345,680...19,364,737
JBrowse link
G CRLF1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,070,465...18,083,701
Ensembl chr19:19,040,682...19,046,584
JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,123,375...18,221,832
Ensembl chr19:19,131,484...19,228,980
JBrowse link
G DDX49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,357,682...18,366,614
Ensembl chr19:19,364,949...19,373,869
JBrowse link
G ELL elongation factor for RNA polymerase II ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,923,035...17,999,842
Ensembl chr19:18,894,054...18,969,923
JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,009,505...18,021,772
Ensembl chr19:18,980,269...18,992,170
JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487
JBrowse link
G GDF15 growth differentiation factor 15 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470
JBrowse link
G HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,367,191...18,379,454
Ensembl chr19:19,374,442...19,385,392
JBrowse link
G IFI30 IFI30 lysosomal thiol reductase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,652,935...17,657,239
Ensembl chr19:18,629,663...18,635,046
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,536,709...17,547,665
Ensembl chr19:18,513,585...18,541,383
JBrowse link
G IQCN IQ motif containing N ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,732,673...17,750,226
Ensembl chr19:18,708,155...18,719,021
JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,913,400...17,916,789
Ensembl chr19:18,884,412...18,887,931
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G 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 chr19:17,755,331...17,757,164 JBrowse link
G KCNN1 potassium calcium-activated channel subfamily N member 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,430,795...17,478,981
Ensembl chr19:18,422,231...18,458,630
JBrowse link
G KLHL26 kelch like family member 26 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 Ensembl chr19:19,086,145...19,117,456 JBrowse link
G KXD1 KxDL motif containing 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,034,887...18,046,603 JBrowse link
G LRRC25 leucine rich repeat containing 25 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,869,844...17,876,364
Ensembl chr19:18,840,438...18,846,918
JBrowse link
G LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,785,580...17,801,866
Ensembl chr19:18,757,390...18,773,812
JBrowse link
G MAST3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,575,138...17,630,814
Ensembl chr19:18,571,425...18,605,026
JBrowse link
G MEF2B myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,583,770...18,609,757
Ensembl chr19:19,585,920...19,610,256
JBrowse link
G MPV17L2 MPV17 mitochondrial inner membrane protein like 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,669,334...17,672,802
Ensembl chr19:18,645,830...18,649,085
JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,639,380...18,641,725
Ensembl chr19:19,640,163...19,642,179
JBrowse link
G PDE4C phosphodiesterase 4C ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,683,455...17,709,936
Ensembl chr19:18,663,378...18,686,194
JBrowse link
G PGPEP1 pyroglutamyl-peptidase I ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,819,337...17,848,683
Ensembl chr19:18,792,341...18,812,697
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177
JBrowse link
G RAB3A RAB3A, member RAS oncogene family ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,672,661...17,679,541
Ensembl chr19:18,649,166...18,656,768
JBrowse link
G REX1BD required for excision 1-B domain containing ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,065,875...18,069,557
Ensembl chr19:19,035,764...19,039,415
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,630,221...18,639,840
Ensembl chr19:19,631,847...19,640,619
JBrowse link
G RPL18A ribosomal protein L18a ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,341,788...17,345,278
Ensembl chr19:18,315,535...18,318,978
JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,501,567...18,550,368
Ensembl chr19:19,504,325...19,553,158
JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480
JBrowse link
G SSBP4 single stranded DNA binding protein 4 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:17,897,548...17,913,159
Ensembl chr19:18,877,213...18,883,849
JBrowse link
G SUGP2 SURP and G-patch domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,429,029...18,471,958
Ensembl chr19:19,436,661...19,473,103
JBrowse link
G TMEM161A transmembrane protein 161A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,557,799...18,576,722
Ensembl chr19:19,560,046...19,578,779
JBrowse link
G TMEM59L transmembrane protein 59 like ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,089,605...18,097,943
Ensembl chr19:19,059,660...19,067,669
JBrowse link
G 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 chr19:18,040,946...18,052,445 JBrowse link
G UPF1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr19:18,269,878...18,306,199
Ensembl chr19:19,292,725...19,313,224
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:218,726,142...218,856,585
Ensembl chr 1:224,107,145...224,238,813
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:217,640,005...218,081,158 JBrowse link
G 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 chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
JBrowse link
G SPMIP3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:219,964,465...220,001,843
Ensembl chr 1:225,346,231...225,382,166
JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome OMIM
ClinVar
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:16,653,762...16,678,198
Ensembl chr  X:24,027,099...24,050,879
JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNT pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:28492532 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLASP1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNT pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM
ClinVar
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
JBrowse link
microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:35,432,834...35,446,969
Ensembl chr12:36,214,444...36,227,886
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33223528 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:119,565,913...119,612,092
Ensembl chr10:123,839,570...123,886,759
JBrowse link
G ACE angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:129,937,993...129,983,747 JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:910,954...912,687
Ensembl chr19:1,890,437...1,891,748
JBrowse link
G ADD3 adducin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:106,597,693...106,727,494
Ensembl chr10:110,123,270...110,178,671
JBrowse link
G ADGRL2 adhesion G protein-coupled receptor L2 ISO RGD PMID:30340542 RGD:13838661 NCBI chr 1:80,506,240...81,189,353
Ensembl chr 1:83,086,465...83,317,446
JBrowse link
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
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 More... NCBI chr  X:100,794,882...100,874,083
Ensembl chr  X:111,253,717...111,332,534
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 More... NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:111,997,440...112,009,662
Ensembl chr 1:111,225,522...111,237,778
JBrowse link
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23806086 PMID:24088041 PMID:25259927 NCBI chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140
JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
JBrowse link
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 chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
JBrowse link
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564
JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
JBrowse link
G ASPM assembly factor for spindle microtubules treatment
susceptibility
ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive RGD
ClinVar
PMID:16141009 PMID:19028728 PMID:20301772 PMID:20679666 PMID:20823249 More... RGD:13439744 RGD:1599300 NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19781682 PMID:25741868 PMID:28492532 PMID:30287823 PMID:31871109 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911
JBrowse link
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
JBrowse link
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:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:143,265,920...143,274,956
Ensembl chr  X:153,137,992...153,161,628
JBrowse link
G BCL11B BCL11 transcription factor B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:79,795,262...79,898,472 JBrowse link
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 chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
JBrowse link
G BPTF bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428
JBrowse link
G BRD4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
JBrowse link
G CALHM4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,337,385...114,369,423
Ensembl chr 6:118,482,269...118,512,046
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,319,599...114,325,898
Ensembl chr 6:118,464,517...118,471,411
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,263,062...114,265,898
Ensembl chr 6:118,409,813...118,411,574
JBrowse link
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 More... NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342
JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570
JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281
JBrowse link
G CCDC88A coiled-coil domain containing 88A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2A:55,445,060...55,576,479
Ensembl chr2A:56,589,221...56,715,362
JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195
JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972
JBrowse link
G CDK19 cyclin dependent kinase 19 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:108,413,832...108,619,053
Ensembl chr 6:112,483,434...112,686,987
JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091
JBrowse link
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
JBrowse link
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
JBrowse link
G CEP63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983783 NCBI chr 3:131,532,450...131,609,240
Ensembl chr 3:139,003,898...139,092,680
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
JBrowse link
G CERT1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:39,788,858...39,927,626
Ensembl chr 5:40,400,900...40,539,921
JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:35202461 NCBI chr11:63,134,776...63,202,516
Ensembl chr11:66,444,406...66,510,221
JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO RGD PMID:10219263 RGD:13204836 NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
JBrowse link
G CLASP1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
JBrowse link
G CLCN4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:2,787,185...2,867,846
Ensembl chr  X:10,040,067...10,120,991
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
G COPB2 COPI coat complex subunit beta 2 ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:63,607,217...63,739,464
Ensembl chr 8:65,268,837...65,401,069
JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr21:30,030,359...30,032,899 JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
JBrowse link
G DDX11 DEAD/H-box helicase 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:55,176,165...55,207,123 JBrowse link
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 More... NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 5:136,876,396...136,980,097 JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism CTD PMID:28191891 NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132
JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,173,641...114,246,129
Ensembl chr 6:118,347,786...118,386,193
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
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 More... NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665
JBrowse link
G ELAC2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241
JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:28767289 NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 PMID:18628313 NCBI chr10:44,703,720...44,784,948 JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317
JBrowse link
G FAM111A FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:54,359,711...54,372,132
Ensembl chr11:57,818,413...57,823,046
JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,534,874...114,573,958
Ensembl chr 6:118,704,146...118,717,760
JBrowse link
G FAM184A family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,768,098...116,957,070
Ensembl chr 6:120,908,644...121,026,173
JBrowse link
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 chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:35,012,076...35,027,018 JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
JBrowse link
G FCN3 ficolin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861
JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936
JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048
JBrowse link
G FRMD4A FERM domain containing 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399
JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:84,445,039...84,456,781 JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr17:713,806...721,374
Ensembl chr17:637,677...644,438
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
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 More... NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
JBrowse link
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 More... NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
JBrowse link
G GPRC6A G protein-coupled receptor class C group 6 member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,841,611...22,562,418
Ensembl chr12:22,744,177...23,069,480
JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chr17:43,530,919...43,537,999 JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:2323782 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 More... NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:203,566,902...203,577,857 JBrowse link
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117
JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
JBrowse link
G IFT74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:26,802,459...26,912,292
Ensembl chr 9:27,415,565...27,514,558
JBrowse link
G IGF1 insulin like growth factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:45,447,977...45,535,836
Ensembl chr  X:53,557,563...53,644,737
JBrowse link
G ITGB6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426
JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:15,100,415...15,376,505
Ensembl chr 6:15,466,050...15,739,170
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 More... NCBI chr11:2,469,750...2,874,467 JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G KIF20B kinesin family member 20B ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr10:86,428,814...86,501,384
Ensembl chr10:89,968,651...90,041,998
JBrowse link
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:26539891 NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531
JBrowse link
G KIF26B kinesin family member 26B ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr 1:220,756,171...221,321,969
Ensembl chr 1:226,343,821...226,681,669
JBrowse link
G KIF2A kinesin family member 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
JBrowse link
G KIF5C kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
JBrowse link
G KIFBP kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chr10:65,455,924...65,484,140
Ensembl chr10:67,989,492...68,017,898
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
JBrowse link
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
JBrowse link
G KPNA5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,488,850...114,550,061
Ensembl chr 6:118,641,551...118,684,486
JBrowse link
G LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:141,562,798...141,631,388
Ensembl chr 5:147,578,042...147,646,834
JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30905398 NCBI chr 6:33,344,372...33,363,143 JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
JBrowse link
G LMNB1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
JBrowse link
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
JBrowse link
G LOC100992172 SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 7:59,090,343...59,098,332 JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G MAK16 MAK16 homolog ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:32,799,512...32,816,149
Ensembl chr 8:29,986,247...30,002,800
JBrowse link
G MAN1A1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,984,842...117,157,623
Ensembl chr 6:121,127,656...121,298,196
JBrowse link
G MASP1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:184,241,611...184,317,272
Ensembl chr 3:192,707,784...192,782,196
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
JBrowse link
G MCM4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:44,387,529...44,404,773
Ensembl chr 8:41,778,247...41,794,783
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
JBrowse link
G MCPH1 microcephalin 1 no_association ISO DNA:SNP: :c.940G>C (g.37995G>C) (human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
RGD
ClinVar
PMID:19267414 PMID:25741868 RGD:13204744 NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
JBrowse link
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 More... NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:88,806,209...88,835,138
Ensembl chr11:92,292,947...92,321,913
JBrowse link
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 More... NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
JBrowse link
G MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:5,040,237...5,207,674
Ensembl chr13:23,334,267...23,500,582
JBrowse link
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 chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
JBrowse link
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:2,201,326...2,211,302 JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
JBrowse link
G NEPRO nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30308447 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:34385670 NCBI chr17:26,581,886...26,653,137
Ensembl chr17:27,100,683...27,171,043
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513
JBrowse link
G NUP188 nucleoporin 188 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:32275884 NCBI chr 9:100,069,656...100,130,521
Ensembl chr 9:128,733,780...128,791,252
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 PMID:31178128 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 PMID:25741868 NCBI chr 6:115,486,422...115,521,317 JBrowse link
G ORC1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653
JBrowse link
G OTX2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19965921 PMID:25741868 PMID:28492532 NCBI chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012
JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:100,060,647...100,345,491
Ensembl chr  X:110,672,664...110,797,992
JBrowse link
G PCLO piccolo presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:74,714,364...75,126,518 JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:143,352,944...143,381,428
Ensembl chr  X:153,240,182...153,267,874
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:45,864,220...45,872,263
Ensembl chr11:46,355,950...46,364,543
JBrowse link
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 chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940
JBrowse link
G PLK4 polo like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G POC1A POC1 centriolar protein A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:52,016,372...52,096,073
Ensembl chr 3:53,245,162...53,324,579
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POLK DNA polymerase kappa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:39,700,659...39,788,727
Ensembl chr 5:40,311,526...40,401,003
JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 ISO MouseDO NCBI chr 6:36,417,086...36,437,259
Ensembl chr 6:37,612,724...37,632,942
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 PMID:16740914 NCBI chr  X:41,188,244...41,200,312
Ensembl chr  X:49,053,030...49,058,585
JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:92,886,918...92,959,611
Ensembl chr 8:95,084,103...95,156,104
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11704759 PMID:11992261 PMID:12717436 PMID:14644997 PMID:15539800 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532 NCBI chr17:76,337,991...76,348,207
Ensembl chr17:82,040,824...82,045,686
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:201,381,270...201,385,703
Ensembl chr 1:206,381,539...206,386,002
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868 NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32566746 PMID:32980694 PMID:33309985 NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RBBP8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
JBrowse link
G RBM28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:120,211,198...120,335,079
Ensembl chr 7:132,955,078...132,988,576
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
JBrowse link
G RFX7 regulatory factor X7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:35,057,195...35,211,897
Ensembl chr15:53,376,869...53,527,541
JBrowse link
G RNF17 ring finger protein 17 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link
G RREB1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:6,945,205...7,089,757
Ensembl chr 6:7,257,875...7,356,544
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 Ensembl chr20:61,581,331...61,618,718 JBrowse link
G 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 chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
JBrowse link
G RWDD1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,379,178...114,401,570
Ensembl chr 6:118,524,052...118,546,373
JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:85,086,661...85,104,983 JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23749797 PMID:25741868 PMID:28492532 NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:914,220...925,244
Ensembl chr19:1,893,577...1,904,452
JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868
G 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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
JBrowse link
G SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:140,544,797...140,571,078
Ensembl chr 8:143,557,722...143,582,353
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:70,267,194...70,295,116
Ensembl chr10:72,943,116...72,968,027
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
JBrowse link
G SIM1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:98,221,476...98,301,215
Ensembl chr 6:102,104,783...102,181,062
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
JBrowse link
G SLC12A5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
G SLC25A19 solute carrier family 25 member 19 ISO Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A RGD PMID:12185364 RGD:1624242 NCBI chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 PMID:25741868 More... NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842
JBrowse link
G 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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
JBrowse link
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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
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 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:16604071 PMID:17273969 PMID:24124034 PMID:25125236 PMID:25741868 More... NCBI chr  X:45,576,100...45,637,314
Ensembl chr  X:53,697,154...53,745,636
JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33299146 NCBI chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841
JBrowse link
G SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:63,087,798...63,174,977 JBrowse link
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312
JBrowse link
G STAMBP STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
JBrowse link
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
G SVBP small vasohibin binding protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30607023 PMID:31363758 NCBI chr 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
JBrowse link
G TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:116,421,520...116,523,138
Ensembl chr 8:119,170,327...119,271,405
JBrowse link
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 6:41,631,483...41,672,988
Ensembl chr 6:42,933,107...42,978,271
JBrowse link
G TAT tyrosine aminotransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886
JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:118,884,928...119,139,138
Ensembl chr 6:123,022,008...123,273,810
JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 PMID:27666374 NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223
JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613
JBrowse link
G TBL2 transducin beta like 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 Ensembl chr 7:80,721,616...80,730,685 JBrowse link
G TBX2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189
JBrowse link
G TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 PMID:25741868 More... NCBI chr18:48,603,069...48,969,010
Ensembl chr18:51,938,357...52,352,030
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,781,915...145,824,312
Ensembl chr 5:151,786,944...151,825,549
JBrowse link
G TCTN2 tectonic family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:121,256,675...121,293,997
Ensembl chr12:125,482,294...125,518,903
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TFAP2C transcription factor AP-2 gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:52,966,907...52,981,024
Ensembl chr20:54,255,489...54,265,432
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
JBrowse link
G TRAIP TRAF interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 3:49,760,528...49,789,637
Ensembl chr 3:50,996,647...51,025,241
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,303,027...114,355,958
Ensembl chr 6:118,449,441...118,498,836
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:112,079,147...112,339,567 JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 3:12,410,885...12,463,932
Ensembl chr 3:12,759,375...12,800,201
JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr19:51,121,560...51,125,768
Ensembl chr19:59,964,174...59,968,453
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
JBrowse link
G TTI2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:32,813,830...32,828,134
Ensembl chr 8:30,000,487...30,014,742
JBrowse link
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31481326 NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
JBrowse link
G TUBB tubulin beta class I ISO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 6:30,465,367...30,470,451 JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25085639 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28973395 More... NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
JBrowse link
G TUBG1 tubulin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340
JBrowse link
G TUBGCP5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 Ensembl chr15:20,403,757...20,444,851 JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725
JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr2B:97,029,102...97,257,181
Ensembl chr2B:215,434,343...215,660,423
JBrowse link
G VARS1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30275004 NCBI chr 6:31,438,663...31,456,926
Ensembl chr 6:32,325,931...32,343,276
JBrowse link
G VGLL2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
JBrowse link
G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327
JBrowse link
G VPS53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:400,048...576,119
Ensembl chr17:414,782...604,705
JBrowse link
G WDFY3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:34413497 NCBI chr10:117,430,788...117,488,778
Ensembl chr10:120,845,695...120,903,540
JBrowse link
G WDR62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
JBrowse link
G XIRP1 xin actin binding repeat containing 1 ISO ClinVar Annotator: match by term: Classical primary microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chr 3:39,079,712...39,089,098 JBrowse link
G YME1L1 YME1 like 1 ATPase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:27,220,951...27,263,841
Ensembl chr10:27,584,099...27,626,453
JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:26056227 NCBI chr  X:54,043,329...54,162,351
Ensembl chr  X:64,121,109...64,182,331
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 NCBI chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192
JBrowse link
G ZNF668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:26633546 PMID:34313816 NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr 6:114,443,844...114,477,220
Ensembl chr 6:118,598,031...118,621,081
JBrowse link
Microcephaly and Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
JBrowse link
G PLK4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:22,332,076...22,371,360
Ensembl chr15:40,486,665...40,522,996
JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 OMIM
ClinVar
PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLK4 polo like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
JBrowse link
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53BP1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr15:22,364,696...22,472,499
Ensembl chr15:40,519,012...40,626,741
JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr15:22,332,076...22,371,360
Ensembl chr15:40,486,665...40,522,996
JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBBP8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome OMIM
ClinVar
PMID:18071751 PMID:21998596 PMID:24389050 PMID:25741868 PMID:27848944 More... NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM
ClinVar
PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
JBrowse link
Microcephaly with Simplified Gyral Pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH4 cadherin 4 ISO ClinVar Annotator: match by term: Simplified gyral pattern ClinVar PMID:29706646 NCBI chr20:57,595,158...58,306,115
Ensembl chr20:58,943,614...59,629,795
JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:29,975,072...29,991,716 JBrowse link
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSMO1 methylsterol monooxygenase 1 ISO ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar
PMID:21285510 PMID:24144731 NCBI chr 4:157,523,099...157,538,508
Ensembl chr 4:169,606,809...169,622,212
JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:3,026,787...3,083,170
Ensembl chr11:3,053,551...3,109,509
JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,615,759...39,742,492
Ensembl chr18:43,244,066...43,274,212
JBrowse link
G ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,455,256...39,548,926
Ensembl chr18:42,990,152...43,082,789
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
JBrowse link
G ELOA2 elongin A2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:40,418,709...40,422,812 JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788
JBrowse link
G HAUS1 HAUS augmin like complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,386,522...39,409,747
Ensembl chr18:42,922,570...42,945,766
JBrowse link
G HDHD2 haloacid dehalogenase like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:40,495,385...40,538,527
Ensembl chr18:43,855,696...43,898,765
JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:9536098 PMID:16972080 PMID:17576681 PMID:21835305 PMID:22991235 More... NCBI chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901
JBrowse link
G KATNAL2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:40,196,170...40,492,175
Ensembl chr18:43,758,249...43,850,517
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921
JBrowse link
G PIAS2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:40,067,901...40,196,078
Ensembl chr18:43,622,455...43,728,675
JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,265,559...39,364,422
Ensembl chr18:42,804,773...42,892,493
JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453
JBrowse link
G SIGLEC15 sialic acid binding Ig like lectin 15 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,111,697...39,125,631
Ensembl chr18:42,658,534...42,663,773
JBrowse link
G SKOR2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:40,594,124...40,639,720 JBrowse link
G 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 chr18:39,007,475...39,035,489
Ensembl chr18:42,550,210...42,575,723
JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:38,766,994...38,966,124
Ensembl chr18:42,448,067...42,506,485
JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
JBrowse link
G ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:39,958,239...40,036,282
Ensembl chr18:43,492,025...43,569,857
JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 OMIM
ClinVar
PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 More... NCBI chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901
JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YIPF5 Yip1 domain family member 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:33164986 NCBI chr 5:139,557,911...139,570,364
Ensembl chr 5:145,612,807...145,625,280
JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar
PMID:25081361 PMID:25741868 PMID:26633546 PMID:27480277 PMID:28492532 More... NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
JBrowse link
microcephaly, growth deficiency, seizures, and brain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
JBrowse link
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135
JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695
JBrowse link
G 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 OMIM
ClinVar
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT10A tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 OMIM
ClinVar
PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 NCBI chr 4:91,970,440...91,987,722
Ensembl chr 4:102,631,501...102,648,454
JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1R15B protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 OMIM
ClinVar
PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chr 1:180,002,895...180,014,956
Ensembl chr 1:184,293,640...184,302,316
JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM
ClinVar
PMID:16199547 PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 More... NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAMBP STAM binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition OMIM
ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
JBrowse link
Microcephaly-Micromelia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132
JBrowse link
Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Hydranencephaly and microcephaly OMIM
ClinVar
PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... Ensembl chr16:15,948,881...16,027,986 JBrowse link
microlissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
JBrowse link
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094
JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chr17:2,045,960...2,051,483 JBrowse link
G MNT MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chr17:2,375,414...2,392,423 JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chr17:1,332,004...1,387,120
Ensembl chr17:1,229,080...1,285,470
JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLF2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar
PMID:36333305 NCBI chr10:97,511,398...97,566,386
Ensembl chr10:100,989,044...101,042,730
JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMC5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar
PMID:36333305 NCBI chr 9:54,446,863...54,543,249 JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
JBrowse link
G ARHGAP15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:16,067,081...16,706,372
Ensembl chr2B:147,217,528...147,855,517
JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr2B:15,512,420...15,899,477
Ensembl chr2B:148,026,117...148,312,426
JBrowse link
G HNMT histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315
JBrowse link
G KYNU kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:16,792,401...16,947,766
Ensembl chr2B:146,975,995...147,132,634
JBrowse link
G LRP1B LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243
JBrowse link
G NXPH2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:21,071,974...21,184,767
Ensembl chr2B:142,745,699...142,751,017
JBrowse link
G SPOPL speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:21,280,143...21,351,547
Ensembl chr2B:142,577,019...142,648,257
JBrowse link
G THSD7B thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:22,185,005...23,099,445
Ensembl chr2B:140,948,485...141,744,341
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM
ClinVar
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
JBrowse link
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly OMIM
ClinVar
PMID:31271740 PMID:34918187 PMID:34926941 NCBI chr2B:128,952,009...128,963,640
Ensembl chr2B:247,740,881...247,752,504
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 1:42,105,405...42,115,721
Ensembl chr 1:43,482,870...43,492,577
JBrowse link
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395
JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr2A:9,413,517...9,462,758
Ensembl chr2A:9,576,871...9,626,193
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr20:34,304,137...34,354,615
Ensembl chr20:35,417,502...35,467,918
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr14:80,954,852...80,996,316
Ensembl chr14:100,268,845...100,310,662
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2B:58,977,379...59,039,514
Ensembl chr2B:176,436,471...176,498,638
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr16:37,896,177...37,942,040
Ensembl chr16:57,036,425...57,074,221
JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
JBrowse link
G 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:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
JBrowse link
G DCX doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:33,780,381...33,796,829
Ensembl chr  X:41,475,116...41,505,837
JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr22:12,774,147...12,929,261
Ensembl chr22:30,630,110...30,781,578
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:143,799,088...143,825,282 JBrowse link
G 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 More...
G 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 More... NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr11:17,788,010...17,936,591
Ensembl chr11:17,472,158...17,517,892
JBrowse link
G KIF2A kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 5:51,605,954...51,690,921
Ensembl chr 5:53,251,415...53,332,218
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:26704558 PMID:28492532 NCBI chr  X:89,504,404...89,622,354
Ensembl chr  X:99,643,595...99,759,631
JBrowse link
G 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 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G 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 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:108,934,081...108,935,376
Ensembl chr  X:119,328,911...119,329,942
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
JBrowse link
G 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 chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
JBrowse link
G 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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
JBrowse link
G TUBB2A tubulin beta 2A class IIa ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
JBrowse link
G 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 More... NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704
JBrowse link
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr17:713,806...721,374
Ensembl chr17:637,677...644,438
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr19:2,517,866...2,527,786
Ensembl chr19:3,468,094...3,474,038
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:52,953,360...52,979,685
Ensembl chr11:56,423,772...56,449,402
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFS methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:30031689 NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 6:168,695,047...168,713,257
Ensembl chr 6:173,781,040...173,799,342
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2B:58,977,379...59,039,514
Ensembl chr2B:176,436,471...176,498,638
JBrowse link
G 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 More... NCBI chr 1:126,357,779...126,385,120
Ensembl chr 1:130,006,097...130,032,985
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 1:206,884,334...206,889,753
Ensembl chr 1:211,911,802...211,913,979
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 7:85,188,960...85,315,452
Ensembl chr 7:98,786,809...98,908,113
JBrowse link
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2B:83,445,401...83,838,065
Ensembl chr2B:201,351,023...201,584,044
JBrowse link
G 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 9:26,749,607...26,793,580
Ensembl chr 9:27,357,437...27,401,103
JBrowse link
G 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 chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395
JBrowse link
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr12:58,616,002...58,787,280
Ensembl chr12:61,234,873...61,296,894
JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM
ClinVar
PMID:1887849 PMID:9536098 PMID:10892749 PMID:14684699 PMID:15855896 More... NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261
JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM
ClinVar
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chr  X:69,718,532...69,857,507
Ensembl chr  X:79,832,517...79,964,187
JBrowse link
Norman-Roberts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 7:95,303,823...95,336,085
Ensembl chr 7:108,048,307...108,080,127
JBrowse link
G 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 7:95,288,747...95,320,294
Ensembl chr 7:108,033,235...108,050,302
JBrowse link
G 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 7:95,338,743...95,359,353
Ensembl chr 7:108,083,203...108,103,494
JBrowse link
G 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 OMIM
ClinVar
PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
JBrowse link
G 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 7:95,363,028...95,437,527
Ensembl chr 7:108,088,197...108,178,578
JBrowse link
Occipital Cortical Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292
JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 Ensembl chr10:134,187,115...134,214,693 JBrowse link
Periventricular Laminar Heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
JBrowse link
periventricular nodular heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr  X:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G 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 More... NCBI chr  X:143,462,157...143,481,496
Ensembl chr  X:153,349,050...153,367,709
JBrowse link
G 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 More... NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445
JBrowse link
G 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 More... NCBI chr  X:143,870,421...143,878,288
Ensembl chr  X:153,740,751...153,748,621
JBrowse link
G 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 More... NCBI chr  X:143,458,693...143,461,945
Ensembl chr  X:153,346,466...153,348,840
JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr 6:31,300,126...31,313,829
Ensembl chr 6:32,190,037...32,204,321
JBrowse link
G 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 More... NCBI chr  X:143,265,920...143,274,956
Ensembl chr  X:153,137,992...153,161,628
JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,045,298...143,059,892
Ensembl chr  X:152,931,608...152,946,292
JBrowse link
G 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 More... NCBI chr  X:144,550,320...144,592,795
Ensembl chr  X:154,389,283...154,428,669
JBrowse link
G 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 More... NCBI chr  X:143,138,574...143,149,824 JBrowse link
G 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 More... NCBI chr  X:144,742,839...144,851,524
Ensembl chr  X:154,581,649...154,641,515
JBrowse link
G 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 More... NCBI chr  X:144,540,603...144,550,152
Ensembl chr  X:154,379,485...154,388,932
JBrowse link
G CPA6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:63,962,991...64,285,840
Ensembl chr 8:65,624,306...65,946,848
JBrowse link
G 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 More... NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G 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 More... NCBI chr  X:143,842,920...143,851,795
Ensembl chr  X:153,712,054...153,725,868
JBrowse link
G 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 More... NCBI chr  X:143,192,599...143,201,647
Ensembl chr  X:153,084,555...153,088,208
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,792,178...143,794,530 JBrowse link
G ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822
JBrowse link
G 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 More... NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317
JBrowse link
G 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 More... NCBI chr  X:144,366,123...144,367,842 JBrowse link
G F8A3 coagulation factor VIII associated 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,925,422...144,927,166 JBrowse link
G 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 More... NCBI chr  X:143,947,867...143,957,966
Ensembl chr  X:153,817,983...153,828,152
JBrowse link
G 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 More... NCBI chr  X:143,885,931...143,892,435 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
OMIM
ClinVar
PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
G 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 More... NCBI chr  X:144,505,703...144,534,871
Ensembl chr  X:154,345,251...154,374,743
JBrowse link
G 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 More... NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,150,062...144,232,216
Ensembl chr  X:153,993,736...154,038,529
JBrowse link
G 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 More... NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877
JBrowse link
G 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 More... NCBI chr  X:142,998,240...143,032,602
Ensembl chr  X:152,881,714...152,907,620
JBrowse link
G 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 More... NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999
JBrowse link
G 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 More... NCBI chr  X:143,336,460...143,345,274
Ensembl chr  X:153,222,309...153,231,135
JBrowse link
G 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 More... NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
JBrowse link
G 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 More... NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602
JBrowse link
G 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 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G 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 More... NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549
JBrowse link
G LOC100985575 40-kDa huntingtin-associated protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,851,466...144,853,185 JBrowse link
G LOC100992822 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,364,612...144,365,333 JBrowse link
G LOC112438438 paraneoplastic antigen Ma6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,947,214...142,949,820 JBrowse link
G LOC117977735 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,849,954...144,850,606 JBrowse link
G MAGEA1 MAGE family member A1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,727,982...142,732,563 JBrowse link
G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
JBrowse link
G 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 More... NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G 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 More... NCBI chr  X:144,258,416...144,285,658
Ensembl chr  X:154,099,463...154,126,575
JBrowse link
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 More... NCBI chr  X:144,542,898...144,550,059
Ensembl chr  X:154,382,737...154,385,472
JBrowse link
G 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 More... NCBI chr  X:143,484,008...143,489,904 JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
JBrowse link
G 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 More... NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
JBrowse link
G 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 More... NCBI chr  X:143,352,944...143,381,428
Ensembl chr  X:153,240,182...153,267,874
JBrowse link
G 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 More... NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167
JBrowse link
G 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 More... NCBI chr  X:143,314,794...143,330,066
Ensembl chr  X:153,200,971...153,215,909
JBrowse link
G 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 More... NCBI chr  X:143,220,029...143,224,659
Ensembl chr  X:153,106,491...153,123,897
JBrowse link
G 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 More... NCBI chr  X:142,631,788...142,635,768
Ensembl chr  X:152,551,452...152,552,940
JBrowse link
G 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 More... NCBI chr  X:142,564,200...142,566,785
Ensembl chr  X:152,483,930...152,485,276
JBrowse link
G PNMA6A PNMA family member 6A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,645,639...142,649,841 JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,728,535...144,734,893
Ensembl chr  X:154,567,361...154,573,715
JBrowse link
G 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 More... NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214
JBrowse link
G 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 More... NCBI chr  X:143,839,739...143,844,026 JBrowse link
G 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 More... NCBI chr  X:143,929,086...143,932,406
Ensembl chr  X:153,800,354...153,803,653
JBrowse link
G 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 More...
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,303,611...144,311,226
Ensembl chr  X:154,144,752...154,151,903
JBrowse link
G 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 More... NCBI chr  X:143,331,213...143,336,426
Ensembl chr  X:153,216,794...153,222,273
JBrowse link
G 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 More... NCBI chr  X:143,344,286...143,349,272
Ensembl chr  X:153,230,137...153,235,124
JBrowse link
G 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 More... NCBI chr  X:143,853,054...143,863,491
Ensembl chr  X:153,725,294...153,734,046
JBrowse link
G 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 More... NCBI chr  X:143,711,495...143,736,128 JBrowse link
G 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 More... NCBI chr  X:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 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 More... NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587
JBrowse link
G 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 More... NCBI chr  X:144,956,906...145,081,204 JBrowse link
G 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 More... NCBI chr  X:142,995,051...142,998,178 JBrowse link
G 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 More... NCBI chr  X:143,925,494...143,928,444 JBrowse link
G 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 More... NCBI chr  X:144,685,548...144,709,136
Ensembl chr  X:154,504,795...154,547,773
JBrowse link
G 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 More... NCBI chr  X:142,961,821...142,976,962
Ensembl chr  X:152,848,217...152,863,236
JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,472,497...142,547,835
Ensembl chr  X:152,391,505...152,464,221
JBrowse link
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
G 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:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999
JBrowse link
G 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:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602
JBrowse link
G 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:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G 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:143,484,008...143,489,904 JBrowse link
G 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:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214
JBrowse link
G 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:143,711,495...143,736,128 JBrowse link
G 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:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587
JBrowse link
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar
PMID:25741868 PMID:28868155 NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105
JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:82,630,734...82,633,448
Ensembl chr 1:117,628,573...117,631,026
JBrowse link
G HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:83,160,326...83,185,688
Ensembl chr 1:118,157,037...118,182,957
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G 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 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency OMIM
ClinVar
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
JBrowse link
G REG4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 1:82,735,390...82,753,262
Ensembl chr 1:117,733,515...117,751,044
JBrowse link
G TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:83,556,763...83,663,453
Ensembl chr 1:118,553,638...118,659,379
JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:83,405,595...83,515,718
Ensembl chr 1:118,402,385...118,516,099
JBrowse link
G ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 1:82,898,848...82,927,622 JBrowse link
Polydactyly-Macrocephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAX MYC associated factor X susceptibility ISO OMIM NCBI chr14:45,588,366...45,683,828
Ensembl chr14:64,535,120...64,562,671
JBrowse link
polyhydramnios, megalencephaly, and symptomatic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRADA STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 More... NCBI chr17:57,783,114...57,822,056
Ensembl chr17:62,929,065...62,967,021
JBrowse link
polymicrogyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:31608932 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:20207543 PMID:25741868 PMID:28492532 PMID:29706646 NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:28492532 PMID:29706646 NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765
JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:29706646 NCBI chr 1:127,154,152...127,164,591
Ensembl chr 1:130,803,557...130,805,338
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 NCBI chr  X:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
JBrowse link
G 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 More... NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Polymicrogyria ClinVar PMID:32581362 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
JBrowse link
G 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 chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
JBrowse link
Polymicrogyria with Optic Nerve Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726
JBrowse link
G 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 More... NCBI chr22:2,931,523...3,082,475 JBrowse link
porencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly ClinVar PMID:25741868 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G 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 chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
JBrowse link
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599
JBrowse link
primary autosomal recessive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
JBrowse link
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 More... NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
JBrowse link
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:18414213 PMID:24033266 NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:27453579 PMID:27503289 NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
JBrowse link
G KNL1 kinetochore scaffold 1 ISO DNA:mutation:cds: c.6125 G>A,p. M2041I(human) RGD PMID:22983954 RGD:9685043 NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
JBrowse link
G WDR62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 More... NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 NCBI chr20:42,287,518...42,312,169
Ensembl chr20:43,374,591...43,397,724
JBrowse link
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
JBrowse link
G 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 More... NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
JBrowse link
G 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 chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive OMIM
ClinVar
PMID:7693575 PMID:11857108 PMID:12046007 PMID:15199523 PMID:16199547 More... NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
JBrowse link
G RNF17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
JBrowse link
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 OMIM
ClinVar
PMID:19131338 PMID:23178126 PMID:25741868 PMID:27540107 PMID:28327206 More... NCBI chr20:42,287,518...42,312,169
Ensembl chr20:43,374,591...43,397,724
JBrowse link
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHC1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive OMIM
ClinVar
PMID:23418308 PMID:25558065 PMID:25741868 NCBI chr12:8,999,018...9,025,900
Ensembl chr12:9,231,394...9,257,806
JBrowse link
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive OMIM
ClinVar
PMID:23918663 NCBI chr 7:84,603,419...84,835,082 JBrowse link
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPE centromere protein E ISO ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive OMIM
ClinVar
PMID:24748105 PMID:25741868 NCBI chr 4:95,562,005...95,654,397
Ensembl chr 4:106,185,283...106,277,229
JBrowse link
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SASS6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive OMIM
ClinVar
PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237 NCBI chr 1:102,741,808...102,790,850
Ensembl chr 1:101,459,348...101,506,072
JBrowse link
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:26005865 PMID:26005868 PMID:28492532 PMID:30043326 More... NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438
JBrowse link
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKLE2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive OMIM
ClinVar
PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 More... NCBI chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140
JBrowse link
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIT citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 More... NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511
JBrowse link
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
JBrowse link
primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition OMIM
ClinVar
PMID:3440221 PMID:9536098 PMID:10573015 PMID:16199547 PMID:17576681 More... NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
JBrowse link
Primary Autosomal Recessive Microcephaly 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323
JBrowse link
Primary Autosomal Recessive Microcephaly 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206
JBrowse link
Primary Autosomal Recessive Microcephaly 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr11:129,005,365...129,078,581
Ensembl chr11:132,865,349...132,935,590
JBrowse link
Primary Autosomal Recessive Microcephaly 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2A:102,939,357...102,980,091
Ensembl chr2A:97,258,412...97,299,906
JBrowse link
Primary Autosomal Recessive Microcephaly 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP37 nucleoporin 37 ISO ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:30179222 NCBI chr12:99,661,779...99,707,618
Ensembl chr12:103,059,232...103,105,066
JBrowse link
Primary Autosomal Recessive Microcephaly 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 7:92,189,179...92,193,483
Ensembl chr 7:105,622,497...105,625,978
JBrowse link
Primary Autosomal Recessive Microcephaly 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
JBrowse link
Primary Autosomal Recessive Microcephaly 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNB2 lamin B2 ISO ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant ClinVar
OMIM
PMID:25741868 PMID:33033404 NCBI chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568
JBrowse link
Primary Autosomal Recessive Microcephaly 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100986453 ribosomal RNA-processing protein 7 homolog A ISO ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive OMIM
ClinVar
PMID:33199730 NCBI chr22:23,403,954...23,415,442 JBrowse link
Primary Autosomal Recessive Microcephaly 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD6IP programmed cell death 6 interacting protein ISO OMIM NCBI chr 3:33,719,603...33,793,301
Ensembl chr 3:34,016,474...34,093,631
JBrowse link
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive OMIM
ClinVar
PMID:10677332 PMID:15793586 PMID:17764569 PMID:18414213 PMID:20301772 More... NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
JBrowse link
Primary Autosomal Recessive Microcephaly 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive OMIM
ClinVar
PMID:35044816 NCBI chr2A:91,393,317...91,433,579
Ensembl chr2A:111,793,236...111,858,392
JBrowse link
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive OMIM
ClinVar
PMID:10521316 PMID:18414213 PMID:22983954 PMID:25326637 PMID:25741868 More... NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858
JBrowse link
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 More... NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
JBrowse link
G 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 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637
JBrowse link
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive OMIM
ClinVar
PMID:12843329 PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 More... NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G 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 More... NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
JBrowse link
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:19215732 PMID:20301772 PMID:22989186 PMID:23772360 More... NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
JBrowse link
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP135 centrosomal protein 135 ISO ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive OMIM
ClinVar
PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 PMID:30214071 More... NCBI chr 4:67,895,930...67,980,231
Ensembl chr 4:74,463,689...74,547,735
JBrowse link
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 More... NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
JBrowse link
primary microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 More... NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr17:7,746,731...7,867,426
Ensembl chr17:7,739,573...7,853,752
JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868
G IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473
JBrowse link
G 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 More... NCBI chr11:2,469,750...2,874,467 JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
JBrowse link
G RTTN rotatin ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 PMID:26608784 NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104
JBrowse link
G 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 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258
JBrowse link
G TSR1 TSR1 ribosome maturation factor ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr17:2,314,567...2,328,518
Ensembl chr17:2,199,023...2,213,193
JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 3:46,568,200...46,591,331
Ensembl chr 3:47,671,286...47,695,772
JBrowse link
G 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 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924
JBrowse link
G CAMP cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,137,785...48,139,893
Ensembl chr 3:49,222,110...49,224,250
JBrowse link
G 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 3:46,822,128...46,882,217
Ensembl chr 3:47,923,673...47,978,660
JBrowse link
G 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 3:48,354,203...48,362,173
Ensembl chr 3:49,436,988...49,445,819
JBrowse link
G 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 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G 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 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G 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 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
JBrowse link
G 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 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G 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 3:45,719,655...45,810,964
Ensembl chr 3:46,900,845...46,917,443
JBrowse link
G 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 3:46,296,556...46,311,246
Ensembl chr 3:47,414,124...47,415,562
JBrowse link
G 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 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
JBrowse link
G 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 3:48,557,976...48,586,051
Ensembl chr 3:49,639,942...49,667,335
JBrowse link
G 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 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
G 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 3:46,473,282...46,478,454
Ensembl chr 3:47,577,949...47,583,126
JBrowse link
G 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 3:47,464,341...47,482,910
Ensembl chr 3:48,564,199...48,580,048
JBrowse link
G CXCR6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,848,722...45,856,145
Ensembl chr 3:46,960,610...46,961,638
JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522
JBrowse link
G DHX30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,715,275...47,762,872
Ensembl chr 3:48,819,125...48,857,964
JBrowse link
G ELP6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,392,777...47,415,830
Ensembl chr 3:48,496,874...48,515,090
JBrowse link
G FBXW12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,290,904...48,318,318 JBrowse link
G FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,825,670...45,903,595
Ensembl chr 3:46,932,148...47,009,676
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,948,965...48,954,276
Ensembl chr 3:50,030,303...50,035,676
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798
JBrowse link
G KIF9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
JBrowse link
G KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
JBrowse link
G LIMD1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,500,413...45,587,850
Ensembl chr 3:46,610,315...46,695,406
JBrowse link
G LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,520,870...48,531,947
Ensembl chr 3:49,602,770...49,613,717
JBrowse link
G LOC103786080 ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,843,126...48,845,424
Ensembl chr 3:49,925,886...49,926,758
JBrowse link
G LRRC2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,413,776...46,463,131
Ensembl chr 3:47,518,600...47,567,020
JBrowse link
G LTF lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,733,361...45,823,810
Ensembl chr 3:46,840,037...46,929,864
JBrowse link
G MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,763,379...47,995,457
Ensembl chr 3:48,858,544...49,020,950
JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084
JBrowse link
G NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,879,867...46,909,901
Ensembl chr 3:47,987,142...48,010,766
JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,586,112...48,606,811
Ensembl chr 3:49,676,282...49,688,548
JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260
JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,914,547...48,931,723
Ensembl chr 3:49,993,219...50,013,272
JBrowse link
G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,439,542...48,479,501
Ensembl chr 3:49,521,550...49,560,711
JBrowse link
G PLXNB1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,325,892...48,352,128
Ensembl chr 3:49,408,666...49,434,913
JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,665,421...48,774,111
Ensembl chr 3:49,747,611...49,854,382
JBrowse link
G PRSS50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,610,119...46,616,435
Ensembl chr 3:47,713,699...47,719,315
JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,954,345...49,018,745
Ensembl chr 3:50,035,676...50,097,596
JBrowse link
G RTP3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,397,231...46,400,221
Ensembl chr 3:47,502,087...47,505,062
JBrowse link
G SACM1L SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,596,775...45,652,482
Ensembl chr 3:46,704,565...46,760,104
JBrowse link
G SCAP SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,314,535...47,379,455
Ensembl chr 3:48,414,012...48,479,845
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,389,924...48,426,064
Ensembl chr 3:49,471,604...49,508,840
JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
JBrowse link
G SLC26A6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,547,277...48,557,099
Ensembl chr 3:49,629,237...49,639,039
JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,663,830...45,703,576
Ensembl chr 3:46,770,067...46,811,158
JBrowse link
G SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248
JBrowse link
G SPINK8 serine peptidase inhibitor Kazal type 8 (putative) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,219,663...48,249,064
Ensembl chr 3:49,304,505...49,327,704
JBrowse link
G TMA7 translation machinery associated 7 homolog ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,362,222...48,366,235
Ensembl chr 3:49,445,111...49,448,009
JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,542,058...48,543,674
Ensembl chr 3:49,624,215...49,625,444
JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,590,527...46,608,981 JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,484,628...48,485,179 JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,931,669...48,940,591
Ensembl chr 3:50,013,708...50,021,367
JBrowse link
G XCR1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,922,985...45,934,332
Ensembl chr 3:47,033,084...47,034,085
JBrowse link
G ZNF589 zinc finger protein 589 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,155,002...48,188,343 JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency OMIM
ClinVar
PMID:9536098 PMID:17436247 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439
JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OCLN occludin ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 NCBI chr 5:44,447,230...44,509,637
Ensembl chr 5:46,023,437...46,069,342
JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chr 7:311,468...394,623 JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARSB phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29979980 NCBI chr2B:109,813,000...109,897,159
Ensembl chr2B:228,394,238...228,478,345
JBrowse link
Schizencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: SCHIZENCEPHALY ClinVar PMID:25741868 PMID:28492532 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G EMX2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Schizencephaly OMIM
ClinVar
PMID:8528262 PMID:9359037 NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972
JBrowse link
G SHH sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Schizencephaly OMIM
ClinVar
PMID:9302262 PMID:10556296 PMID:12709790 PMID:15292211 PMID:18655123 More... NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G SIX3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Schizencephaly OMIM
ClinVar
PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More... NCBI chr2A:45,038,634...45,072,867 JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G 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 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G 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 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
Seckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase susceptibility ISO ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
DNA:point mutation:2101A>G (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
JBrowse link
G 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 chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G CEP152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
JBrowse link
G PCNT pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
JBrowse link
Seckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNT pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
JBrowse link
G RBBP8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 OMIM
ClinVar
PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 More... NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4 OMIM
ClinVar
PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432
JBrowse link
G 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 More... NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945
JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:136,876,396...136,980,097 JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447
JBrowse link
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHEJ1 non-homologous 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 OMIM
ClinVar
PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
JBrowse link
Short Stature and Microcephaly with Genital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPT centromere protein T ISO ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies OMIM
ClinVar
PMID:25741868 PMID:29228025 NCBI chr16:48,169,892...48,177,559
Ensembl chr16:67,557,661...67,564,735
JBrowse link
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr2A:46,732,683...46,740,589
Ensembl chr2A:47,663,304...47,671,463
JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies ClinVar PMID:27250922 NCBI chr2A:46,696,543...46,732,625
Ensembl chr2A:47,627,376...47,663,272
JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF407 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 chr18:67,985,750...68,451,774 JBrowse link
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 7:144,229,031...144,256,854
Ensembl chr 7:156,378,685...156,406,516
JBrowse link
G 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 More... NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490
JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 8:18,626,998...18,980,416
Ensembl chr 8:15,576,416...15,904,123
JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932
JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615
JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NANS N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type OMIM
ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 9:69,146,016...69,172,355
Ensembl chr 9:97,267,088...97,293,385
JBrowse link
G 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 9:69,176,088...69,209,574
Ensembl chr 9:97,294,407...97,330,059
JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Stromme syndrome OMIM
ClinVar
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 More... NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
JBrowse link
subcortical band heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
G EML1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar
PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr14:80,362,837...80,566,996
Ensembl chr14:99,793,812...99,885,359
JBrowse link
G 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 More... NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)
RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGB3 high mobility group box 3 ISO OMIM NCBI chr  X:140,632,163...140,639,774 JBrowse link
syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:33,026,525...33,052,252
Ensembl chr  X:40,730,677...40,756,209
JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:32,497,931...32,624,307
Ensembl chr  X:40,202,235...40,249,986
JBrowse link
G 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 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570
JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:33,074,757...33,095,049
Ensembl chr  X:40,777,829...40,798,628
JBrowse link
G 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:33,780,381...33,796,829
Ensembl chr  X:41,475,116...41,505,837
JBrowse link
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 More... NCBI chr  X:34,136,375...34,145,754
Ensembl chr  X:41,836,693...41,837,838
JBrowse link
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 More... NCBI chr  X:34,172,153...34,176,193
Ensembl chr  X:41,868,163...41,869,172
JBrowse link
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 More... NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
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:33,097,206...33,183,322
Ensembl chr  X:40,798,363...40,886,270
JBrowse link
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:33,071,311...33,071,977
Ensembl chr  X:40,774,479...40,774,889
JBrowse link
G NYX nyctalopin ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:33,899,010...33,928,363 JBrowse link
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:33,535,543...33,683,220
Ensembl chr  X:41,232,041...41,379,910
JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:137,524,106...138,015,114
Ensembl chr  X:147,951,022...148,436,935
JBrowse link
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 1:5,549,742...6,532,568
Ensembl chr 1:6,824,687...7,781,265
JBrowse link
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 OMIM
ClinVar
PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chr  X:45,746,228...45,897,250
Ensembl chr  X:53,855,404...54,005,366
JBrowse link
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 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080
JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF125 ring finger protein 125 ISO ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar
PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chr18:25,227,353...25,297,186
Ensembl chr18:28,824,183...28,873,068
JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar
PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr11:61,244,175...61,248,805
Ensembl chr11:64,573,537...64,578,328
JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:67,985,750...68,451,774 JBrowse link
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 treatment ISO RGD PMID:12384518 RGD:1549429 NCBI chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936
JBrowse link
G FLNA filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chr16:604,366...605,560 JBrowse link
G TSC1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
RGD
ClinVar
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776
JBrowse link
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 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324
JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602
JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286
JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313
JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661
JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419
JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152
JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686
JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010
JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666
JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697
JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713
JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833
JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,170,361...108,189,498 JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133
JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031
JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414
JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841
JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945
JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607
JBrowse link
G 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 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326
JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268
JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082
JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482
JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869
JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643
JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304
JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178
JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864
JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,481,811...106,482,817 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904
JBrowse link
G LOC100994627 ficolin-2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992
JBrowse link
G LOC100994951 ficolin-1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111
JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065
JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066
JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071
JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926
JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631
JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257
JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117
JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598
JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,669,550...106,681,918 JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805
JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,620,368...106,629,655 JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680
JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774
JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545
JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,218,338...104,269,322
Ensembl chr 9:132,832,924...132,865,901
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413
JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340
JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704
JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642
JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051
JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653
JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228
JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686
JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430
JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054
JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007
JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302
JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292
JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331
JBrowse link
G TSC1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 OMIM
ClinVar
RGD
PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
JBrowse link
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 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660
JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793
JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046
JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036
JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889
JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Ensembl chr16:733,726...735,794 JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,390,160...1,403,978 JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995
JBrowse link
G C1QTNF8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,095,896...1,097,260 JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,035,826...1,055,005 JBrowse link
G CCDC154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:54,158...64,522
Ensembl chr16:1,488,750...1,498,293
JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:735,974...739,572 JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:803,340...813,170 JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:742,818...754,087 JBrowse link
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:233,377...299,494
Ensembl chr16:1,666,559...1,726,437
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391
JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385
JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557
JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:708,401...711,626 JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592
JBrowse link
G GNG13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:813,363...813,721 JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,407,385...1,418,523 JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:740,574...742,521 JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:789,542...796,792
Ensembl chr16:1,994,864...2,001,615
JBrowse link
G IFNG interferon gamma ISO OMIM NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442
JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:696,710...698,767 JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:299,835...323,210
Ensembl chr16:1,733,188...1,754,175
JBrowse link
G LMF1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:869,449...973,456 JBrowse link
G LOC100972985 meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:835,420...874,178 JBrowse link
G LOC100975679 acylpyruvase FAHD1, mitochondrial ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:449,359...451,070 JBrowse link
G LOC100977490 ras-related protein Rab-26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,006,847...1,012,263 JBrowse link
G LOC100978423 tryptase beta-2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G LOC100990880 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:39,543...41,134
Ensembl chr16:1,474,158...1,475,201
JBrowse link
G LOC100992459 hydroxyacylglutathione hydrolase, mitochondrial ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:431,417...455,211 JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:327,995...392,691
Ensembl chr16:1,759,171...1,821,246
JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G METRN meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:728,365...730,423 JBrowse link
G METTL26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828
JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558
JBrowse link
G MSLN mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:777,146...783,449 JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr16:761,003...766,102
Ensembl chr16:2,028,487...2,032,636
JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:742,402...744,850
Ensembl chr16:2,048,550...2,051,005
JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:664,310...676,640
Ensembl chr16:2,115,583...2,127,069
JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:392,694...394,106
Ensembl chr16:1,822,719...1,824,147
JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:720,087...725,567 JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:682,746...684,569 JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656
JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:405,264...411,626 JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,070,291...1,073,123 JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:585,901...600,482 JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 More... NCBI chr16:604,366...605,560 JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:105,005...113,730
Ensembl chr16:1,540,411...1,543,413
JBrowse link
G RAB40C RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:606,023...640,714 JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:690,053...692,580 JBrowse link
G RHOT2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:682,588...687,861 JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:735,302...737,776
Ensembl chr16:2,055,918...2,057,965
JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:749,186...760,331
Ensembl chr16:2,033,466...2,043,719
JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:739,562...742,323
Ensembl chr16:2,051,128...2,054,086
JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:800,191...806,007 JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532 NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:399,090...405,020
Ensembl chr16:1,830,040...1,835,504
JBrowse link
G SSTR5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:694,414...696,682 JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:710,090...714,421
Ensembl chr16:2,078,645...2,083,100
JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:725,629...732,350
Ensembl chr16:2,061,199...2,067,715
JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337
JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr16:152,459...178,785
Ensembl chr16:1,588,454...1,609,649
JBrowse link
G TPSG1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,222,933...1,226,415 JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 OMIM
ClinVar
PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
G TSR3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,404,927...1,411,747 JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:1,367,288...1,382,575 JBrowse link
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 chr16:11,145...39,682
Ensembl chr16:1,418,377...1,457,134
JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:699,142...704,869 JBrowse link
G WDR90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 Ensembl chr16:661,264...681,977 JBrowse link
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
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr16:694,562...706,711
Ensembl chr16:2,086,844...2,092,277
JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
JBrowse link
G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,593,069...43,602,550
Ensembl chr19:52,121,687...52,131,135
JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 Ensembl chr22:45,428,159...45,604,453 JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,639,921...43,653,473 JBrowse link
G DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome ClinVar PMID:6368217 PMID:10838249 PMID:11071142 PMID:11592034 PMID:11741828 More... NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
JBrowse link
G FSD1L fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 9:76,619,595...76,717,372
Ensembl chr 9:104,761,018...104,837,806
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
JBrowse link
G GNG8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,626,498...43,637,618
Ensembl chr19:52,155,081...52,156,410
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar NCBI chr22:14,077,463...14,929,250 JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:26060116 RGD:11532770 NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
JBrowse link
G POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 More... NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
JBrowse link
G PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,666,591...43,710,858
Ensembl chr19:52,195,303...52,237,731
JBrowse link
G PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,613,065...43,617,700
Ensembl chr19:52,141,822...52,146,473
JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:24033266 PMID:25741868 PMID:27733679 PMID:28492532 NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
JBrowse link
G SLC44A1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:76,417,869...76,612,233
Ensembl chr 9:104,597,755...104,737,620
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241
JBrowse link
G 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 More...
G 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 More... NCBI chr 9:76,854,177...76,938,334
Ensembl chr 9:104,980,935...105,128,988
JBrowse link
G 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 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:27,639,726...27,676,555
Ensembl chr10:28,001,249...28,037,527
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:28492532 NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:644,646...670,860
Ensembl chr20:414,066...431,032
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome 3 OMIM
ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr10:27,639,726...27,676,555
Ensembl chr10:28,001,249...28,037,527
JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D20 TBC1 domain family member 20 ISO ClinVar Annotator: match by term: Warburg micro syndrome 4 OMIM
ClinVar
PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr20:644,646...670,860
Ensembl chr20:414,066...431,032
JBrowse link
Warburton Anyane Yeboa Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar
PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr15:59,376,993...59,573,925 JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 6:154,581,148...155,018,706 JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar
PMID:5519603 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 More... NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:45,576,100...45,637,314
Ensembl chr  X:53,697,154...53,745,636
JBrowse link
X-linked lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia OMIM
ClinVar
PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chr  X:17,598,858...17,612,544 JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817
JBrowse link
G 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 More... NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:126,691,534...126,705,788
Ensembl chr  X:136,954,024...136,967,819
JBrowse link
Zaki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WLS Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar
PMID:25741868 PMID:34587386 NCBI chr 1:67,336,009...67,470,265
Ensembl chr 1:69,318,742...69,425,652
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        Nervous System Malformations 2346
          complex cortical dysplasia with other brain malformations 1576
            Abnormal Cortical Gyration 2
            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 + 1358
            Malformations of Cortical Development, Group II + 186
            Malformations of Cortical Development, Group III + 26
            Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 54
            Muller Barth Menger Syndrome 0
            Non-Lissencephalic Cortical Dysplasia 0
            Occipital Cortical Malformations 1
            Polymicrogyria with Optic Nerve Hypoplasia 1
            Schizencephaly 4
            autosomal dominant intellectual developmental disorder 13 2
            complex cortical dysplasia with other brain malformations 1 0
            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 0
            pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
Path 2
Term Annotations click to browse term
  disease 18006
    Developmental Disease 17892
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17809
        genetic disease 17793
          monogenic disease 10204
            autosomal genetic disease 9386
              autosomal dominant disease 6168
                complex cortical dysplasia with other brain malformations 1576
                  Abnormal Cortical Gyration 2
                  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 + 1358
                  Malformations of Cortical Development, Group II + 186
                  Malformations of Cortical Development, Group III + 26
                  Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 54
                  Muller Barth Menger Syndrome 0
                  Non-Lissencephalic Cortical Dysplasia 0
                  Occipital Cortical Malformations 1
                  Polymicrogyria with Optic Nerve Hypoplasia 1
                  Schizencephaly 4
                  autosomal dominant intellectual developmental disorder 13 2
                  complex cortical dysplasia with other brain malformations 1 0
                  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 0
                  pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
paths to the root