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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:microcephaly
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Accession:DOID:10907 term browser browse the term
Definition:A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO)
Synonyms:exact_synonym: Congenital microcephaly;   Microcephalies;   Microlissencephalies;   Microlissencephaly;   Severe Congenital Microcephalies;   Severe Congenital Microcephaly;   microcephalus;   microencephaly
 narrow_synonym: Classical primary microcephaly;   PRIMARY MICROCEPHALY, RECESSIVE;   PROGRESSIVE MICROCEPHALY
 primary_id: MESH:D008831
 xref: GARD:3603;   GARD:7038;   ICD10CM:Q02;   ICD9CM:742.1;   NCI:C85874
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 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 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 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 ALPL alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9452105, PMID:11760847, PMID:12162492, PMID:18455459, PMID:18769927, PMID:18821074, PMID:25023282, PMID:25741868, PMID:28492532, PMID:30293248 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 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, PMID:26637979 NCBI chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140
JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
JBrowse link
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201
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 AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr15:29,857,818...29,957,158
Ensembl chr15:48,195,581...48,288,895
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 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 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 susceptibility
treatment
ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar Annotator: match by term: Microcephaly
DNA:mutations:multiple:
RGD
ClinVar
PMID:16141009, PMID:19808985, PMID:20823249, PMID:25741868, PMID:26539891, PMID:28492532 RGD:13439741, 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:32566746 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 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:25741868 NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
JBrowse link
G AXIN2 axin 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:28492532, PMID:30311386 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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 NCBI chr  X:143,265,920...143,274,956 JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327, PMID:25741868, 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 BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:15475955, PMID:25741868, PMID:28492532 NCBI 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:11994750, PMID:25741868, PMID:29100083, PMID:29100089, PMID:32581362 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 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 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 DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)
ClinVar Annotator: match by term: Microcephaly
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
RGD
ClinVar
PMID:18414213, PMID:25741868, PMID:26436113, PMID:28492532, PMID:32581362 RGD:13450906 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 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 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 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 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 COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868, PMID:30311386 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
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 COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24033287, PMID:24633401, PMID:24854265, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
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, PMID:30311386 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 ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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 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 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:9653161, PMID:10602371, PMID:10677299, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11175299, PMID:15521979, PMID:15670717, PMID:15805162, PMID:15952211, PMID:16044199, PMID:16207203, PMID:16497572, PMID:16983147, PMID:17441222, PMID:17965227, PMID:18006960, PMID:19390132, PMID:20301322, PMID:20556518, PMID:21696385, PMID:23042628, PMID:23293579, PMID:24033266, PMID:25040602, PMID:25741868, PMID:28250423, PMID:28492532, PMID:28972118, PMID:29300326, PMID:30311386 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:25741868, PMID:28492532 NCBI chr 5:136,876,396...136,980,097 JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257
JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive microcephaly
CTD
ClinVar
PMID:17460227, PMID:30311386 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 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 JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:23603762, PMID:25741868, PMID:30311386 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, PMID:25944381, PMID:28492532, PMID:32581362 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 ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 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 EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr17:7,604,331...7,610,302
Ensembl chr17:7,590,569...7,596,876
JBrowse link
G ELAC2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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 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 Annotator: match by term: Congenital microcephaly
ClinVar PMID:25741868, PMID:30311386 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G EPG5 ectopic P-granules autophagy protein 5 homolog 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 EPM2A EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:143,179,097...143,525,223 JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:9443879, PMID:10739753, PMID:10767341, PMID:18414213, PMID:18628313, PMID:19894250, PMID:22661500, PMID:22904069, PMID:25136123, PMID:25741868, PMID:25820262, PMID:28492532, PMID:30311386 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 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 family with sequence similarity 111 member 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 FANCC FA complementation group C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
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 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:28492532 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18627055, PMID:25741868 NCBI chr14:9,545,147...9,572,309 JBrowse link
G FOXP2 forkhead box P2 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
JBrowse link
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, PMID:24033266, PMID:25741868, PMID:26490186, PMID:26997702, PMID:28492532 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 GDNF glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:30311386 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, PMID:28202424, PMID:28492532, PMID:28747448 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 NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
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 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 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:2323782, PMID:17027311, PMID:23975452, PMID:25481104, PMID:25741868, PMID:28492532 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 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 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 DNA:nonsense mutation,haploinsufficiency :cds:
ClinVar Annotator: match by term: Microcephaly
RGD
ClinVar
PMID:20668042, PMID:25741868 RGD:8548823 NCBI chr12:99,986,887...100,066,773 JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:28492532 NCBI chr17:5,036,659...5,046,146
Ensembl chr17:5,024,740...5,034,216
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 KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 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 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 KIF2A kinesin family member 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:23603762, PMID:25741868 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 JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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: Congenital microcephaly
ClinVar Annotator: match by term: Microcephaly
ClinVar PMID:25741868, PMID:30311386 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 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 LOC100968477 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 LOC100970467 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 LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967, PMID:25741868, PMID:32581362 NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
JBrowse link
G LOC100990238 intraflagellar transport protein 122 homolog 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 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 LRPPRC leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:28492532, PMID:30311386 NCBI chr2A:43,975,949...44,083,846
Ensembl chr2A:44,914,578...45,021,434
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 mannan binding lectin serine peptidase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:30311386 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 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 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:nonsense mutation:cds:p.S25X (human)
ClinVar Annotator: match by term: Microcephaly
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
DNA:SNP: :c.940G>C (g.37995G>C) (human)
RGD
ClinVar
PMID:12046007, PMID:19267414, PMID:23683352, PMID:25741868 RGD:13204744, RGD:13204745, RGD:9589021 NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
JBrowse link
G MCUB mitochondrial calcium uniporter dominant negative subunit beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 4:102,062,220...102,186,200
Ensembl chr 4:112,631,323...112,753,943
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10814719, PMID:10852707, PMID:10854091, PMID:10944854, PMID:10991688, PMID:11007980, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11071498, PMID:11214906, PMID:11227330, PMID:11238684, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309367, PMID:11309679, PMID:11313756, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11524741, PMID:11738860, PMID:11738864, PMID:11738866, PMID:11738879, PMID:11738883, PMID:11738885, PMID:11746022, PMID:11772708, PMID:11805248, PMID:11885030, PMID:11896459, PMID:11913567, PMID:11960578, PMID:12075485, PMID:12111643, PMID:12180070, PMID:12325019, PMID:12325033, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12872250, PMID:12966523, PMID:14560307, PMID:14598336, PMID:15057977, PMID:15173251, PMID:15287421, PMID:15389714, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16077729, PMID:16122633, PMID:16169931, PMID:16183801, PMID:16473305, PMID:16672765, PMID:16690727, PMID:16832102, PMID:16844334, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17914728, PMID:17986102, PMID:18174548, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:19652677, PMID:19722030, PMID:19914908, PMID:20031356, PMID:20151026, PMID:20301670, PMID:20625242, PMID:21154482, PMID:21160487, PMID:21764336, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:22525432, PMID:23238081, PMID:23260135, PMID:23262346, PMID:23270700, PMID:23421866, PMID:23452848, PMID:23810759, PMID:23921973, PMID:24033266, PMID:24328834, PMID:24399845, PMID:24458799, PMID:25473036, PMID:25741868, PMID:26175308, PMID:26350204, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27255190, PMID:27354166, PMID:27465203, PMID:27799067, PMID:27929079, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18414213, PMID:28492532, PMID:30311386 NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942
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 JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 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:17296794, PMID:19889647, PMID:21285398, PMID:22442078, PMID:24126688, PMID:24604904, PMID:24862862, PMID:24863639, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26382835, PMID:26467025, PMID:26686600, PMID:26801520, PMID:27549087, PMID:27863451, PMID:28492532, PMID:30311386, PMID:31188717 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MFSD2A major facilitator superfamily domain containing 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:25741868, PMID:26005865, PMID:26005868 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 NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328
JBrowse link
G MMAA metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:137,960,877...138,001,384
Ensembl chr 4:149,620,381...149,658,470
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9562578, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11847170, PMID:14563344, PMID:15519027, PMID:16679492, PMID:19273718, PMID:19356534, PMID:19574547, PMID:20505798, PMID:22057632, PMID:22115648, PMID:22569109, PMID:22574137, PMID:24033266, PMID:25335496, PMID:25741868, PMID:27108529, PMID:27532257, PMID:28492532, PMID:30311386 NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:30311386 Ensembl chr16:16,007,168...16,091,058 JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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 NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:30311386 Ensembl chr16:15,948,881...16,027,986 JBrowse link
G NEXMIF neurite extension and migration factor ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr  X:63,985,226...64,177,750
Ensembl chr  X:74,107,799...74,114,635
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 NIN ninein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr14:31,308,388...31,420,045
Ensembl chr14:49,609,368...49,719,971
JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 5:73,306,527...73,491,367
Ensembl chr 5:78,585,649...78,698,184
JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr  X:60,413,098...60,439,359
Ensembl chr  X:70,469,764...70,496,526
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO associated with Growth Disorders;DNA:duplications:multiple (human)
ClinVar Annotator: match by term: Microcephaly
RGD
ClinVar
PMID:23599694, PMID:25741868 RGD:9590157 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
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 NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar 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:25741868 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 PCGF3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr 4:802,990...874,063
Ensembl chr 4:746,137...805,443
JBrowse link
G PCLO piccolo presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:74,714,364...75,126,518 JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr21:32,872,733...32,907,868 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
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 NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:30311386 NCBI chr17:35,122,347...35,252,800
Ensembl chr2A:110,417,770...110,546,387
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:25344692, 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 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:32077105 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: Congenital microcephaly
ClinVar Annotator: match by term: Microcephaly
ClinVar PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12960218, PMID:14644997, PMID:15987685, PMID:16358218, PMID:16523510, PMID:17020470, PMID:17056636, PMID:17222357, PMID:17339163, PMID:17361219, PMID:18372317, PMID:19020799, PMID:19206169, PMID:19467855, PMID:19737548, PMID:20308328, PMID:21396583, PMID:21500339, PMID:21533187, PMID:22315187, PMID:23584145, PMID:24033266, PMID:24628801, PMID:25741868, PMID:26249544, PMID:26297936, PMID:27521173, PMID:27619028, PMID:28492532, PMID:30311386, PMID:32581362 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 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 JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
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: Congenital microcephaly
ClinVar Annotator: match by term: Microcephaly
ClinVar PMID:20400964, PMID:21990120, PMID:24800917, PMID:25741868, PMID:26261251, PMID:28492532, PMID:30311386, PMID:32566746 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 RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:39,582,480...39,623,749
Ensembl chr  X:47,440,815...47,481,204
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 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 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
G RTTN rotatin ISO ClinVar Annotator: match by term: Congenital microcephaly
ClinVar Annotator: match by term: 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 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 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 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:25741868 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 SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:28492532, PMID:30311386 NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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 SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:28492532 NCBI chr11:106,973,256...106,982,237
Ensembl chr11:110,817,016...110,896,829
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 SH3BP4 SH3 domain binding protein 4 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:30311386 NCBI chr2B:122,179,431...122,284,430
Ensembl chr2B:241,089,624...241,149,524
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:9462754, PMID:10980529, PMID:25741868, PMID:32581362 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 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 SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:17273969, PMID:25125236, PMID:25741868, PMID:28492532 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 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 NCBI chr16:24,229,869...24,271,427 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: 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 NCBI chr 6:41,631,483...41,672,988
Ensembl chr 6:42,933,107...42,978,271
JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744
JBrowse link
G TAT tyrosine aminotransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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 NCBI chr 1:210,881,078...211,008,686 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:18728071, PMID:21671391, PMID:22460224, PMID:25741868, PMID:28492532, PMID:28708303, PMID:29695756, PMID:32581362 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 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 NCBI chr 5:1,542,217...1,586,775
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 TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22958901, PMID:24033266, PMID:24093860, PMID:25741868, PMID:26507537, PMID:28255936, PMID:28492532, PMID:30311386 NCBI chr 1:176,957,298...176,976,033 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 3 like 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 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 NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
JBrowse link
G TUBB2A tubulin beta 2A class IIa ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:2,993,653...2,997,570 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 associated protein 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 associated protein 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 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 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 UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:108,897,140...108,916,620
Ensembl chr  X:119,292,231...119,311,632
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:30311386 NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216
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 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 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 WDR62 WD repeat domain 62 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
RGD
PMID:20890278, PMID:20890279, PMID:24875059 RGD:11541053 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: Microlissencephaly
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 WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19559398, PMID:22581971, PMID:28492532, PMID:30311386 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
JBrowse link
G XIRP1 xin actin binding repeat containing 1 ISO ClinVar Annotator: match by term: Classical primary microcephaly ClinVar PMID:25558065 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 ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly
ClinVar Annotator: match by term: Congenital microcephaly
ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
JBrowse link
G ZMYND11 zinc finger MYND-type containing 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868, PMID:30311386 NCBI chr10:139,879...264,711
Ensembl chr10:226,880...346,369
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 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
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 OMIM 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 OMIM NCBI chr17:69,220,073...69,237,067
Ensembl chr17:74,773,341...74,789,699
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 OMIM NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
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 OMIM 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 THOC6 THO complex 6 ISO OMIM NCBI chr16:1,965,875...1,969,595
Ensembl chr16:3,138,229...3,141,876
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 Annotator: match by term: Acquired porencephaly
ClinVar PMID:18077766, PMID:25741868, PMID:26467025, PMID:28492532 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 OMIM NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
JBrowse link
G COL4A2-AS2 COL4A2 antisense 2 ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar PMID:28492532, PMID:30315939 NCBI chr13:91,593,477...91,600,562 JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, PMID:19564592, PMID:20397747, PMID:20479760, PMID:21160487, PMID:21775177, PMID:22867051, PMID:23064044, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
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 RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549, PMID:16813600, PMID:18414213, PMID:19241098, PMID:20479760, PMID:21160487, PMID:21775177, PMID:22867051, PMID:25741868, PMID:26467025, PMID:28492532 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 OMIM NCBI chr  X:125,099,378...125,171,161
Ensembl chr  X:135,378,094...135,439,781
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 OMIM NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931
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 OMIM 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 VPS13B vacuolar protein sorting 13 homolog B ISO OMIM NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
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 DELE1 DAP3 binding cell death enhancer 1 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 ClinVar PMID:25741868 NCBI chr 5:137,283,938...137,302,203
Ensembl chr 5:143,394,554...143,412,532
JBrowse link
G PCDH12 protocadherin 12 ISO OMIM NCBI chr 5:137,305,110...137,324,879
Ensembl chr 5:143,414,064...143,429,540
JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19852433, PMID:21532573 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: Feingold syndrome 1 ClinVar PMID:16906565, PMID:18470948, PMID:20301770, PMID:25741868 NCBI chr2A:15,923,366...15,926,680 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO OMIM NCBI chr2A:15,925,130...15,931,605 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 OMIM NCBI chr2A:89,293,727...89,322,182
Ensembl chr2A:113,747,536...113,775,619
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CTD Direct Evidence: marker/mechanism CTD 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 WDR73 WD repeat domain 73 ISO OMIM 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: Spinocerebellar ataxia autosomal recessive 5
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 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM NCBI chr 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746
JBrowse link
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KMT2A lysine methyltransferase 2A ISO OMIM NCBI chr11:113,273,198...113,364,404 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
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 OMIM 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 DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome
ClinVar PMID:28492532 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 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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 OMIM NCBI chr11:88,806,209...88,835,138 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 OMIM NCBI chr 7:97,447,332...97,512,812
Ensembl chr 7:110,177,284...110,243,923
JBrowse link
Juberg Hayward Syndrome 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: Cranio-oro-digital syndrome ClinVar PMID:10982489, PMID:12410386, PMID:12612583, PMID:15194946, PMID:15917206, PMID:16299064, PMID:16417552, PMID:16822260, PMID:17264970, PMID:17431908, PMID:17632775, PMID:18414213, PMID:18805826, PMID:19773341, PMID:20598277, PMID:20844545, PMID:21520333, PMID:21836662, PMID:22522697, PMID:25167861, PMID:25649377, PMID:25741868, PMID:26404489, PMID:26467025, PMID:27193221, PMID:28133863, PMID:28454995, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr  X:143,799,088...143,825,282 JBrowse link
Kat6a 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: KAT6A syndrome ClinVar PMID:15040442, PMID:16651658, PMID:17374998, PMID:19001415, PMID:19254709, PMID:19410540, PMID:19854944, PMID:19922872, PMID:21724834, PMID:22921202, PMID:23063713, PMID:23431171, PMID:24307508, PMID:24684905, PMID:25348405, PMID:25728775, PMID:25728777, PMID:25741868, PMID:27133397, PMID:27615324 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
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 OMIM NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216
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 NCBI chr19:36,597,420...36,607,021 JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO OMIM 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 OMIM NCBI chr  X:67,082,551...67,088,492
Ensembl chr  X:77,194,757...77,200,532
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 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 OMIM Ensembl chr16:15,948,881...16,027,986 JBrowse link
Lissencephaly 6, with Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KATNB1 katanin regulatory subunit B1 ISO OMIM NCBI chr16:38,011,804...38,034,015
Ensembl chr16:57,143,472...57,165,426
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: Lowry Wood syndrome ClinVar PMID:25741868 NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793
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 OMIM NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147
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 OMIM 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 chr21:32,872,733...32,907,868 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: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:21474760, PMID:21474761, PMID:21977988, PMID:22581640, PMID:25741868, PMID:25741869, PMID:26522830 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 OMIM NCBI chr21:32,872,733...32,907,868 JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 associated protein 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 associated protein 6 ISO OMIM 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 OMIM 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, autosomal recessive, 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 associated protein 4 ISO OMIM 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 OMIM 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 OMIM NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
JBrowse link
Microcephaly with Spastic Quadriplegia 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: Recessive microcephaly with spastic quadriplegia ClinVar PMID:22822038, PMID:25741868, PMID:30178464 NCBI chr 5:137,305,110...137,324,879
Ensembl chr 5:143,414,064...143,429,540
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 OMIM 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 OMIM 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 OMIM 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 IER3IP1 immediate early response 3 interacting protein 1 ISO OMIM NCBI chr18:40,543,039...40,564,372 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 OMIM NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
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 OMIM 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 OMIM 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 PNKP polynucleotide kinase 3'-phosphatase ISO OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 ClinVar PMID:25741868, PMID:25749350, PMID:28191891, PMID:28492532, PMID:28630177 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 OMIM Ensembl chr16:15,948,881...16,027,986 JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM 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 OMIM 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 OMIM 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
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 OMIM NCBI chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
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 OMIM NCBI chr2B:58,977,379...59,039,514
Ensembl chr2B:176,436,471...176,498,638
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 OMIM 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 OMIM NCBI chr17:713,806...721,374
Ensembl chr17:637,677...644,438
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 OMIM NCBI chr11:52,953,360...52,979,685
Ensembl chr11:56,423,772...56,449,402
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 OMIM NCBI chr 1:126,357,779...126,385,120
Ensembl chr 1:130,006,097...130,032,985
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 PLAA phospholipase A2 activating protein ISO OMIM NCBI chr 9:26,749,607...26,793,580
Ensembl chr 9:27,357,437...27,401,103
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 OMIM NCBI chr 5:127,972,630...128,059,911 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 associated protein 2 ISO OMIM Ensembl chr10:134,187,115...134,214,693 JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH DEFICIENCY ClinVar NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO OMIM NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly
CTD
ClinVar
PMID:607595, PMID:23225343, PMID:25741868, PMID:28492532 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 DNA:mutation:cds:c.2399G>A,p.G800E(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
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 OMIM 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 ASPM assembly factor for spindle microtubules ISO DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human)
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly
DNA:mutations: :
RGD
ClinVar
PMID:15355437, PMID:18414213, PMID:18452193, PMID:19028728, PMID:19770472, PMID:20679666, PMID:22823409, PMID:23611254, PMID:24033266, PMID:25525159, PMID:26467025 RGD:13442485, RGD:13442486 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 DNA:deletion mutation:cds:c.3243-46delTCAG (human)
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly
RGD
ClinVar
PMID:16900296, PMID:18414213, PMID:24033266 RGD:11541115 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: Primary autosomal recessive 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 DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly
DNA:deletion: :p.R393Sfs*50 (human)
RGD
ClinVar
PMID:20978018, PMID:22775483, PMID:25741868 RGD:13204748, RGD:13204750 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 DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly
DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)
RGD
ClinVar
PMID:20729831, PMID:21961505, PMID:22308068, PMID:23065275, PMID:24228726, PMID:25303973, PMID:25741868, PMID:28756000 RGD:11541051, RGD:11541056 NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038
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: Primary autosomal recessive microcephaly 1 ClinVar PMID:18414213, PMID:25741868, PMID:26467025 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: Primary autosomal recessive microcephaly 1 ClinVar PMID:18414213, PMID:19028728, PMID:23611254, PMID:25741868, PMID:28492532, PMID:29644084 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: Primary autosomal recessive microcephaly 1 ClinVar PMID:12843329, PMID:15793586, 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 OMIM NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 major facilitator superfamily domain containing 2A ISO OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 NCAPD2 non-SMC condensin I complex subunit D2 ISO OMIM 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 OMIM 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 OMIM 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 OMIM 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 MAP11 microtubule associated protein 11 ISO OMIM NCBI chr 7:92,189,179...92,193,483
Ensembl chr 7:105,622,497...105,625,978
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 OMIM NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608
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 OMIM 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 OMIM NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810
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 OMIM 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: Primary autosomal recessive microcephaly 6 ClinVar PMID:15793586, PMID:18414213, PMID:24402816, PMID:25741868, PMID:26467025, PMID:28492532 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 OMIM 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 OMIM 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 OMIM NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233
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 QARS1 glutaminyl-tRNA synthetase 1 ISO OMIM NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
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 OMIM 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 OMIM 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 OMIM 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 OMIM NCBI chr2B:109,813,000...109,897,159
Ensembl chr2B:228,394,238...228,478,345
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 DNA:point mutation:2101A>G (human) OMIM
RGD
PMID:12640452 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: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 chr21:32,872,733...32,907,868 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 chr21:32,872,733...32,907,868 JBrowse link
G RBBP8 RB binding protein 8, endonuclease ISO OMIM 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 OMIM 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:20522431, PMID:24402816, PMID:25741868, PMID:26467025, PMID:28492532 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 OMIM NCBI chr 5:136,876,396...136,980,097 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 OMIM 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 OMIM 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 OMIM 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, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC4 X-ray repair cross complementing 4 ISO OMIM NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490
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 OMIM 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 OMIM 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:27213289 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 OMIM NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
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 microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNX3 sorting nexin 3 ISO OMIM NCBI chr 6:106,010,633...106,063,331
Ensembl chr 6:109,874,105...109,924,185
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 CASK calcium/calmodulin dependent serine protein kinase ISO OMIM NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570
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
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
PMID:25741868, PMID:26467025 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
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
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193
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 OMIM NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
JBrowse link