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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;   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 chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33223528 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		JBrowse link
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340 		JBrowse link
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
G Adgrl2 adhesion G protein-coupled receptor L2 ISO RGD PMID:30340542 RGD:13838661 NCBI chr 2:237,696,055...238,327,141
Ensembl chr 2:237,696,056...238,327,141 		JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23806086 PMID:24088041 PMID:25259927 NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Arfgef2 ARF guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:176,358,909...176,416,178
Ensembl chr 2:174,062,976...174,118,355 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808 		JBrowse link
G Aspm assembly factor for spindle microtubules treatment ISO
ISS 		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 		ClinVar
MouseDO
RGD		 PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 More... RGD:13439744, RGD:13439744 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19781682 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026 		JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bcl11b BCL11 transcription factor B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32566746 NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312 		JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769 		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 chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173 		JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272 		JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:84,360,361...84,374,239
Ensembl chr10:83,864,638...83,878,011 		JBrowse link
G Cdk19 cyclin-dependent kinase 19 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:43,770,409...43,910,629
Ensembl chr20:43,770,409...43,910,628 		JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO
ISS 		DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 		ClinVar
MouseDO
RGD		 PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 More... RGD:13450906 NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:103,715,344...103,760,931
Ensembl chr13:101,184,127...101,229,669 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:25741868 NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
Ensembl chr 3:112,810,425...112,878,458 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31970223 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cep63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983783 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase IAGP RGD PMID:10219263 RGD:13204836 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo IAGP RGD PMID:10219263 RGD:13204836
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,729,194...23,795,391
Ensembl chr  X:23,729,338...23,793,238 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Copb2 COPI coat complex subunit beta 2 ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:127,893,450...127,911,347
Ensembl chr 5:122,664,677...122,682,095 		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 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:81,679,956...81,707,331
Ensembl chr14:77,455,696...77,482,821 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26633546 PMID:27480277 More... NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692 		JBrowse link
G Ddx11 DEAD/H-box helicase 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:105,833,234...105,862,844
Ensembl chr 9:105,833,504...105,862,550 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10602371 PMID:10677299 PMID:10814720 More... NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 PMID:34515852 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601 		JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:28767289 NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 PMID:18628313 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547 		JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,934,424...33,056,626
Ensembl chr20:32,934,636...33,056,652 		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 chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital microcephaly 		CTD
ClinVar		 PMID:18627055 PMID:25741868 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27072799 More... NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:27108799 PMID:28492532 PMID:30194818 PMID:31735425 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903 		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 chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:2323782 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 More... NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO DNA:nonsense mutation,haploinsufficiency :cds:
ClinVar Annotator: match by term: Microcephaly 		ClinVar
RGD		 PMID:25741868 PMID:20668042 RGD:8548823 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Kif20b kinesin family member 20B ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 1:241,840,898...241,896,451
Ensembl chr 1:232,428,371...232,483,787 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:26539891 NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072 		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 PMID:28492532 NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508 		JBrowse link
G Kif5c kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Kifbp kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:39013459 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915 		JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078 		JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931 		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 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607 		JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mak16 MAK16 homolog ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:60,972,699...60,981,250
Ensembl chr16:60,972,697...60,983,243 		JBrowse link
G Man1a1 mannosidase, alpha, class 1A, member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:33,202,509...33,385,747
Ensembl chr20:33,202,517...33,385,824 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144 		JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600 		JBrowse link
G Mcph1 microcephalin 1 no_association ISO
ISS 		DNA:nonsense mutation:cds:p.S25X (human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
DNA:SNP: :c.940G>C (g.37995G>C) (human) 		ClinVar
MouseDO
RGD		 PMID:25741868 PMID:12046007 PMID:23683352 PMID:19267414 RGD:9589021, RGD:13204745, RGD:13204744 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:20,382,995...20,401,993
Ensembl chr 8:12,101,594...12,120,592 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25741868 PMID:26005865 PMID:26005868 NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690 		JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:80,980,629...80,987,264
Ensembl chr14:76,756,077...76,763,411 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30308447 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724 		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 		ClinVar
RGD		 PMID:25741868 PMID:23599694 RGD:9590157 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:255,712,797...255,838,285
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:32275884 NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 PMID:31178128 NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 PMID:25741868 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19965921 PMID:25741868 PMID:28492532 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063 		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 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,629,537...32,639,559 JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313 		JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISS MouseDO NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 PMID:16740914 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:63,845,017...63,906,791
Ensembl chr 7:63,844,268...63,906,791 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11704759 PMID:11992261 PMID:12717436 PMID:14644997 PMID:15928039 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532 NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868 NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32566746 PMID:32980694 PMID:33309985 More... NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:57,722,946...57,761,935
Ensembl chr 4:57,722,223...57,761,653 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:25741868 NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024 		JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:26,876,687...27,002,554
Ensembl chr17:26,876,697...27,002,615 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26608784 PMID:26846091 PMID:28492532 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23749797 PMID:25741868 PMID:28492532 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:14672992 PMID:17347258 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Sec24c SEC24 homolog C, COPII coat complex component ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:3,602,460...3,624,524
Ensembl chr15:3,602,460...3,624,422 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		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 chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447 		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:20129935 PMID:21832227 PMID:25326635 More... NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:17273969 PMID:19701948 PMID:24124034 PMID:25125236 PMID:25741868 More... NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:6,741,504...7,221,685
Ensembl chr17:6,742,273...7,224,935 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:12,029,189...12,068,234
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610 		JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		JBrowse link
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30607023 PMID:31363758 NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717 		JBrowse link
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 PMID:27666374 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529 		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:22045651 PMID:22460224 PMID:25741868 More... NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30426156 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tfap2c transcription factor AP-2 gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:161,315,114...161,322,998
Ensembl chr 3:161,315,031...161,322,995 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:108,641,852...108,661,638 		JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215 		JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:60,980,665...60,988,587
Ensembl chr16:60,979,039...60,988,569 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO associated with Lissencephaly;DNA:missense mutations:cds: RGD PMID:18728072 RGD:11069114 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31481326 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25085639 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28973395 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
G Tubb5 tubulin, beta 5 class I ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		JBrowse link
G Tubg1 tubulin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		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 chr 3:128,265,160...128,377,830
Ensembl chr 3:107,811,392...107,922,204 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30275004 NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298 		JBrowse link
G Vgll2 vestigial-like family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:28492532 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
G Vps53 VPS53 subunit of GARP complex ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,919,820...61,038,674
Ensembl chr10:60,919,820...61,038,676 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:34413497 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:20890278 PMID:20890279 PMID:24875059 RGD:11541053 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
G Xirp1 xin actin-binding repeat containing 1 ISO ClinVar Annotator: match by term: Classical primary microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chr 8:119,744,778...119,757,547
Ensembl chr 8:119,747,419...119,757,349 		JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 More... NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:26056227 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:26633546 PMID:34313816 NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878 		JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306 		JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G C4h3orf20 similar to human chromosome 3 open reading frame 20 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414
Ensembl chr 1:123,968,265...123,977,414 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071 		JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,799,101...6,903,616
Ensembl chr 9:6,562,288...6,667,064 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828 		JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,511,558...123,609,874
Ensembl chr 4:123,511,559...123,609,874 		JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540 		JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009 		JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578 		JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Sh3bp5 SH3-domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,589,877...6,676,524
Ensembl chr16:6,583,465...6,698,975 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875 		JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 More... NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) 		OMIM
CTD
ClinVar		 PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies OMIM
ClinVar		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr16:75,787,411...75,868,584
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar PMID:25741868 PMID:28492532 PMID:33864888 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
autosomal dominant primary microcephaly 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: LMNB1-related primary microcephaly | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:32910914 PMID:33033404 NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
autosomal dominant primary microcephaly 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:33033404 NCBI chr 7:9,443,308...9,459,468
Ensembl chr 7:8,789,314...8,808,665 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha- and gamma-adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900 		JBrowse link
G Abhd17c abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595 		JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328 		JBrowse link
G Adamtsl3 ADAMTS-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986 		JBrowse link
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351 		JBrowse link
G Aen apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,815,094...132,824,522
Ensembl chr 1:132,815,142...132,824,523 		JBrowse link
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757 		JBrowse link
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638 		JBrowse link
G Akap13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302 		JBrowse link
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651 		JBrowse link
G Ankrd34c ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,271,264...90,281,759
Ensembl chr 8:90,269,315...90,281,775 		JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,675,148...105,679,970
Ensembl chr 3:105,663,638...105,682,404 		JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443 		JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789 		JBrowse link
G Anxa2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191 		JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322 		JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243 		JBrowse link
G Aqp9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395 		JBrowse link
G Aqr aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,874,987...100,945,026
Ensembl chr 3:100,874,987...100,945,044 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,673,199...68,775,648
Ensembl chr 8:59,777,379...59,880,245 		JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153 		JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124 		JBrowse link
G Arpp19 cAMP-regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452
Ensembl chr 8:75,779,523...75,802,452 		JBrowse link
G Atosa atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549 		JBrowse link
G Atp8b4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,554,979...113,757,635
Ensembl chr 3:113,556,192...113,757,225 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,891,207...105,914,414
Ensembl chr 3:105,892,478...105,914,410 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bcl2a1 BCL2-related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:98,596,806...98,604,890
Ensembl chr 8:89,716,914...89,724,998 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367 		JBrowse link
G Blm BLM RecQ like helicase ISO
ISS 		ClinVar Annotator: match by term: BLM-related condition | ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome
OMIM:210900
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... RGD:1580056, RGD:1599420 NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145 		JBrowse link
G Bnc1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333 		JBrowse link
G Bnip2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,640,436...70,661,782
Ensembl chr 8:70,640,445...70,675,590 		JBrowse link
G Btbd1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,734,549...135,773,067
Ensembl chr 1:135,734,589...135,771,981 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G C1h15orf40 similar to human chromosome 15 open reading frame 40 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,725,869...135,732,028
Ensembl chr 1:135,717,545...135,732,039 		JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031 		JBrowse link
G C2cd4b C2 calcium-dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328 		JBrowse link
G C3h15orf48 similar to human chromosome 15 open reading frame 48 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006 		JBrowse link
G C3h15orf62 similar to human chromosome 15 open reading frame 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,164,179...106,167,404
Ensembl chr 3:106,157,382...106,167,831 		JBrowse link
G C8h15orf39 similar to human chromosome 15 open reading frame 39 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941 		JBrowse link
G C8h15orf61 similar to human chromosome 15 open reading frame 61 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751 		JBrowse link
G Calml4 calmodulin-like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Car12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440 		JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370 		JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,736,120...105,745,039
Ensembl chr 3:105,739,174...105,744,697 		JBrowse link
G Ccnb2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874 		JBrowse link
G Ccndbp1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,962,402...107,974,234
Ensembl chr 3:107,962,261...107,974,233 		JBrowse link
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380 		JBrowse link
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682 		JBrowse link
G Celf6 CUGBP, Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041 		JBrowse link
G Cemip cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
Ensembl chr 3:112,810,425...112,878,458 		JBrowse link
G Cfap161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,743,783...137,768,685
Ensembl chr 1:137,743,784...137,768,730 		JBrowse link
G Cgnl1 cingulin-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,273,401...72,424,842
Ensembl chr 8:72,275,645...72,422,917 		JBrowse link
G Chac1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,342,302...106,345,526
Ensembl chr 3:106,342,302...106,345,526 		JBrowse link
G Chp1 calcineurin-like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251 		JBrowse link
G Chrm5 cholinergic receptor, muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,284,846...99,337,252
Ensembl chr 3:99,284,846...99,337,252 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760 		JBrowse link
G Cops2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,084,174...113,110,090
Ensembl chr 3:113,084,176...113,109,947 		JBrowse link
G Coro2b coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302 		JBrowse link
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297 		JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292 		JBrowse link
G Csnk1g1 casein kinase 1, gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,915,263...108,970,620
Ensembl chr 3:108,915,280...108,967,227 		JBrowse link
G Ctsh cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Ctxn2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Dapk2 death-associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330 		JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,749,736...132,765,963
Ensembl chr 1:132,749,756...132,765,923 		JBrowse link
G Dis3l DIS3-like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165 		JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,762,303...105,777,826
Ensembl chr 3:105,762,305...105,777,800 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,085,246...55,102,715
Ensembl chr 8:55,085,464...55,101,207 		JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,162,197...106,195,771
Ensembl chr 3:106,162,197...106,195,751 		JBrowse link
G Dph6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:101,307,229...101,437,463
Ensembl chr 3:101,307,231...101,534,603 		JBrowse link
G Dpp8 dipeptidylpeptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825 		JBrowse link
G Dtwd1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,392,402...113,409,322
Ensembl chr 3:113,392,457...113,408,105 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518 		JBrowse link
G Ehd4 EH-domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,058,191...107,121,985
Ensembl chr 3:107,058,958...107,122,002 		JBrowse link
G Eid1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,922,961...112,924,680
Ensembl chr 3:112,922,668...112,924,752 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953 		JBrowse link
G Ell3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,413,035...108,417,181
Ensembl chr 3:108,410,448...108,417,132 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729 		JBrowse link
G Emc7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,263,933...99,274,365
Ensembl chr 3:99,263,980...99,274,360 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:128,433,460...128,451,683
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969 		JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,507,839...106,535,922
Ensembl chr 3:106,508,076...106,535,922 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906 		JBrowse link
G Fam227b family with sequence similarity 227, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,226,662...113,392,396
Ensembl chr 3:113,233,205...113,392,320 		JBrowse link
G Fam81a family with sequence similarity 81, member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,762,852...70,821,898
Ensembl chr 8:70,763,614...70,821,875 		JBrowse link
G Fam98b family with sequence similarity 98, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,965,027...75,971,714
Ensembl chr 8:67,069,998...67,076,685 		JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148 		JBrowse link
G Fem1b fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929 		JBrowse link
G Foxb1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,407,221...70,409,841
Ensembl chr 8:70,408,186...70,409,781 		JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498 		JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472 		JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,074,584...105,217,180
Ensembl chr 3:105,068,543...105,217,167 		JBrowse link
G Furin furin (paired basic amino acid cleaving enzyme) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314 		JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,879,972...113,924,742
Ensembl chr 3:113,879,973...113,923,696 		JBrowse link
G Galk2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,110,057...113,243,014
Ensembl chr 3:113,110,030...113,233,306 		JBrowse link
G Ganc glucosidase, alpha; neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,353,369...107,406,104
Ensembl chr 3:107,353,369...107,405,241 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080 		JBrowse link
G Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,689,173...70,696,476
Ensembl chr 8:70,686,844...70,699,562 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783 		JBrowse link
G Gjd2 gap junction protein, delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061 		JBrowse link
G Glce glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,546,104...62,612,144
Ensembl chr 8:62,546,107...62,612,040 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069 		JBrowse link
G Golm2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,827,017...108,896,207
Ensembl chr 3:108,827,047...108,896,207 		JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,236,794...105,337,664
Ensembl chr 3:105,236,795...105,337,226 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842 		JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082 		JBrowse link
G Gtf2a2 general transcription factor 2A subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,662,447...70,675,576
Ensembl chr 8:70,662,428...70,675,569 		JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507 		JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177 		JBrowse link
G Haus2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,553,146...107,565,982
Ensembl chr 3:107,553,161...107,565,157 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,796,347...75,965,347
Ensembl chr 8:66,856,935...67,070,312 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
G Hmg20a high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656 		JBrowse link
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339 		JBrowse link
G Hypk Huntingtin interacting protein K ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,434,997...108,436,370
Ensembl chr 3:108,432,539...108,436,370 		JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,043,419...70,085,217
Ensembl chr 8:70,043,424...70,084,995 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959 		JBrowse link
G Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648 		JBrowse link
G Il16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414 		JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,368,455...106,465,716
Ensembl chr 3:106,368,455...106,467,911 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804 		JBrowse link
G Iqch IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223 		JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Isg20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,829,303...132,837,027
Ensembl chr 1:132,815,123...132,837,027 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650 		JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407 		JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,726,036...106,734,601
Ensembl chr 3:106,726,036...106,734,600 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Jmjd7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,998,454...107,004,538
Ensembl chr 3:106,998,477...107,004,538 		JBrowse link
G Katnbl1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,183,748...99,225,789
Ensembl chr 3:99,183,716...99,225,786 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,909,821...65,911,558 JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Klhl25 kelch-like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,724,894...129,750,142
Ensembl chr 1:129,722,026...129,750,227 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539 		JBrowse link
G Larp6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,183,744...61,205,548
Ensembl chr 8:61,184,116...61,205,535 		JBrowse link
G Lcmt2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,099,960...108,102,084
Ensembl chr 3:108,099,961...108,102,084 		JBrowse link
G Lctl lactase-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357 		JBrowse link
G Ldhal6b lactate dehydrogenase A-like 6B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272 		JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983 		JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681 		JBrowse link
G LOC120094549 U5 spliceosomal RNA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991 		JBrowse link
G LOC120094551 U6 spliceosomal RNA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146
Ensembl chr14:63,594,040...63,594,146
Ensembl chr15:63,594,040...63,594,146
Ensembl chr17:63,594,040...63,594,146
Ensembl chr  X:63,594,040...63,594,146
Ensembl chr17:63,594,040...63,594,146
Ensembl chr10:63,594,040...63,594,146
Ensembl chr14:63,594,040...63,594,146
Ensembl chr11:63,594,040...63,594,146
Ensembl chr15:63,594,040...63,594,146
Ensembl chr 2:63,594,040...63,594,146
Ensembl chr 3:63,594,040...63,594,146
Ensembl chr  X:63,594,040...63,594,146
Ensembl chr 5:63,594,040...63,594,146
Ensembl chr14:63,594,040...63,594,146
Ensembl chr 7:63,594,040...63,594,146
Ensembl chr13:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146
Ensembl chr 9:63,594,040...63,594,146
Ensembl chr 2:63,594,040...63,594,146
Ensembl chr16:63,594,040...63,594,146
Ensembl chr16:63,594,040...63,594,146
Ensembl chr 9:63,594,040...63,594,146
Ensembl chr15:63,594,040...63,594,146
Ensembl chr 5:63,594,040...63,594,146
Ensembl chr 2:63,594,040...63,594,146
Ensembl chr 6:63,594,040...63,594,146
Ensembl chr 1:63,594,040...63,594,146
Ensembl chr14:63,594,040...63,594,146
Ensembl chr 2:63,594,040...63,594,146
Ensembl chr 6:63,594,040...63,594,146
Ensembl chr 3:63,594,040...63,594,146
Ensembl chr18:63,594,040...63,594,146
Ensembl chr 5:63,594,040...63,594,146
Ensembl chr 6:63,594,040...63,594,146
Ensembl chr 1:63,594,040...63,594,146
Ensembl chr 2:63,594,040...63,594,146
Ensembl chr18:63,594,040...63,594,146
Ensembl chr18:63,594,040...63,594,146
Ensembl chr 6:63,594,040...63,594,146
Ensembl chr 2:63,594,040...63,594,146
Ensembl chr  X:63,594,040...63,594,146
Ensembl chr 6:63,594,040...63,594,146
Ensembl chr10:63,594,040...63,594,146
Ensembl chr 7:63,594,040...63,594,146
Ensembl chr 4:63,594,040...63,594,146 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Lpcat4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:119,499,128...119,507,275
Ensembl chr 3:99,044,729...99,052,875 		JBrowse link
G Lrrc49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,053,264...61,160,695
Ensembl chr 8:61,053,267...61,160,850 		JBrowse link
G Lrrc57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,544,786...107,553,256
Ensembl chr 3:107,547,405...107,553,256 		JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369 		JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654 		JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315 		JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690 		JBrowse link
G Map1a microtubule-associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,520,616...72,748,395
Ensembl chr 8:63,625,221...63,851,983 		JBrowse link
G Mapda N6-Methyl-AMP deaminase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,101,857...108,119,557
Ensembl chr 3:108,101,857...108,118,516
Ensembl chr 3:108,101,857...108,118,516 		JBrowse link
G Mapk6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720 		JBrowse link
G Mapkbp1 mitogen activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199 		JBrowse link
G Megf11 multiple EGF-like-domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999 		JBrowse link
G Mesp1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Mex3b mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,855,130...136,859,365
Ensembl chr 1:136,855,130...136,859,354 		JBrowse link
G Mfap1a microfibrillar-associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,440,163...108,456,744
Ensembl chr 3:108,438,845...108,456,750 		JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Minar1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,137,374...90,169,152
Ensembl chr 8:90,137,374...90,169,137 		JBrowse link
G Mindy2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,268,274...71,327,698
Ensembl chr 8:71,256,447...71,328,453 		JBrowse link
G Mir184 microRNA 184 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
G Mir9-3 microRNA 9-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,440,049...133,440,138 JBrowse link
G Mns1 meiosis-specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Mrpl46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,698,872...132,707,639
Ensembl chr 1:132,698,601...132,707,628 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,707,601...132,717,253
Ensembl chr 1:132,680,420...132,717,253 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		JBrowse link
G Myo5c myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Myzap myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036 		JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:82,264,751...82,349,642
Ensembl chr 8:73,383,695...73,468,951 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348 		JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339 		JBrowse link
G Nmb neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISS OMIM:210900 MouseDO NCBI chr 7:92,825,568...93,071,037
Ensembl chr 7:90,936,112...91,164,899 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286 		JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624 		JBrowse link
G Nutm1 NUT midline carcinoma, family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453 		JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,593,746...106,603,281
Ensembl chr 3:106,593,760...106,603,250 		JBrowse link
G Onecut1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277 		JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975 		JBrowse link
G Paqr5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,431,867...62,513,688
Ensembl chr 8:62,431,867...62,513,688 		JBrowse link
G Parp16 poly (ADP-ribose) polymerase family, member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433 		JBrowse link
G Parp6 poly (ADP-ribose) polymerase family, member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994
Ensembl chr 8:66,420,587...66,432,994 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333 		JBrowse link
G Pde8a phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,166,143...135,288,986
Ensembl chr 1:135,166,237...135,288,024 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Peak1 pseudopodium-enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,605,040...56,819,748
Ensembl chr 8:56,609,015...56,819,096 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172 		JBrowse link
G Phgr1 proline, histidine and glycine rich 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,742,822...105,760,835
Ensembl chr 3:105,757,581...105,760,832 		JBrowse link
G Pias1 protein inhibitor of activated STAT, 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,233,566...72,347,085
Ensembl chr 8:63,338,150...63,438,905 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599 		JBrowse link
G Pla2g4b phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,004,238...107,013,853
Ensembl chr 3:107,005,489...107,013,853 		JBrowse link
G Pla2g4d phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,220,973...107,242,224
Ensembl chr 3:107,220,978...107,242,224 		JBrowse link
G Pla2g4e phospholipase A2, group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:127,586,318...127,652,369
Ensembl chr 3:107,132,541...107,198,233 		JBrowse link
G Pla2g4f phospholipase A2, group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,249,053...107,266,201
Ensembl chr 3:107,250,075...107,264,689 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266 		JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polr2m RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,131,992...72,139,423
Ensembl chr 8:72,131,530...72,243,036 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428 		JBrowse link
G Ppp1r14d protein phosphatase 1, regulatory (inhibitor) subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,205,043...106,219,290
Ensembl chr 3:106,205,046...106,219,649 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765 		JBrowse link
G Prtg protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,548,440...73,657,945
Ensembl chr 8:73,548,466...73,653,259 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952 		JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,666,210...73,684,873
Ensembl chr 8:73,665,593...73,684,869 		JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384 		JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035 		JBrowse link
G Ramac RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,708,529...135,714,417
Ensembl chr 1:135,708,535...135,722,151 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056 		JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887 		JBrowse link
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209 		JBrowse link
G Rhcg Rh family, C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876 		JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,260,774...106,270,009
Ensembl chr 3:106,260,776...106,269,479 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,125,961...106,146,568
Ensembl chr 3:106,125,951...106,146,586 		JBrowse link
G Rnf111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:79,984,831...80,061,022
Ensembl chr 8:71,103,973...71,145,070 		JBrowse link
G Rora RAR-related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:69,301,635...70,034,741
Ensembl chr 8:69,301,733...70,025,931 		JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,746,642...106,768,182
Ensembl chr 3:106,656,742...106,768,151 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306 		JBrowse link
G Rplp1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,289,539...71,290,872
Ensembl chr 8:62,393,177...62,395,339 		JBrowse link
G Rpp25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
Ensembl chr 8:135,295,919...135,298,535 		JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418
Ensembl chr12:67,562,483...67,567,418
Ensembl chr 2:67,562,483...67,567,418 		JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,017,759...106,023,010
Ensembl chr 3:106,017,864...106,023,251 		JBrowse link
G Rsl24d1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,852,991...73,861,996
Ensembl chr 8:73,852,996...73,862,001 		JBrowse link
G Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Saxo2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,596,445...136,638,444
Ensembl chr 1:136,623,493...136,638,454 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Scarna15 small Cajal body-specific RNA 15 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,484,620...135,484,683
Ensembl chr 1:135,484,559...135,484,685
Ensembl chr 1:135,484,559...135,484,685 		JBrowse link
G Scg3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015 		JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463 		JBrowse link
G Sec11a SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,881,448...134,909,427
Ensembl chr 1:134,875,265...134,915,069 		JBrowse link
G Secisbp2l SECIS binding protein 2-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,989,613...113,036,060
Ensembl chr 3:112,991,908...113,035,884 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775 		JBrowse link
G Sema6d semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094 		JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928 		JBrowse link
G Serf2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,426,960...108,430,736
Ensembl chr 3:108,426,887...108,430,724 		JBrowse link
G Serinc4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,428,896...108,434,778
Ensembl chr 3:108,428,897...108,434,778 		JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726 		JBrowse link
G Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,124,500...136,255,669
Ensembl chr 1:136,124,499...136,255,584 		JBrowse link
G Shc4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,880,598...112,974,216
Ensembl chr 3:112,880,600...112,974,366 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Skic8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,103,542...55,120,837
Ensembl chr 8:55,103,545...55,120,813 		JBrowse link
G Skor1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
G Slc27a2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145 		JBrowse link
G Sltm SAFB-like, transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		JBrowse link
G Snap23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,514,088...107,546,177
Ensembl chr 3:107,514,131...107,544,320 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:75,515,780...75,565,487
Ensembl chr 8:66,630,086...66,670,360 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Spesp1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:62,751,313...62,766,657
Ensembl chr 8:62,751,297...62,766,718 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119 		JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
G Sptbn5 spectrin, beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,013,783...107,054,878
Ensembl chr 3:107,013,265...107,054,324 		JBrowse link
G Sqor sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,841,225...109,886,724
Ensembl chr 3:109,841,250...109,960,778 		JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,442,184...105,445,875
Ensembl chr 3:105,442,198...105,445,859 		JBrowse link
G Stard5 StAR-related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,606,151...137,616,017
Ensembl chr 1:137,606,177...137,616,469 		JBrowse link
G Stard9 StAR-related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898 		JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711 		JBrowse link
G Tbc1d2b TBC1 domain family, member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201 		JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683 		JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261 		JBrowse link
G Tgm5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:128,461,836...128,497,761
Ensembl chr 3:108,008,143...108,043,976 		JBrowse link
G Tgm7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:128,505,638...128,523,298
Ensembl chr 3:108,051,890...108,076,239 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995 		JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523 		JBrowse link
G Tipin timeless interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352
Ensembl chr 9:64,780,828...64,801,352 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359 		JBrowse link
G Tm6sf1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443 		JBrowse link
G Tmc3 transmembrane channel-like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:137,552,347...137,597,477
Ensembl chr 1:137,552,455...137,597,633 		JBrowse link
G Tmco5a transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:103,732,936...103,746,242
Ensembl chr 3:103,732,945...103,746,249 		JBrowse link
G Tmed3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,241,516...90,249,429
Ensembl chr 8:90,241,516...90,249,346 		JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609 		JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692 		JBrowse link
G Tmem62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,921,940...107,961,830
Ensembl chr 3:107,927,307...107,961,795 		JBrowse link
G Tmem87a transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,307,726...107,353,571
Ensembl chr 3:107,307,726...107,353,551 		JBrowse link
G Tmod2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720 		JBrowse link
G Tmod3 tropomodulin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977 		JBrowse link
G Tnfaip8l3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:129,565,060...129,585,629
Ensembl chr 3:109,111,468...109,132,037 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
G Tspan3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:56,546,067...56,569,815
Ensembl chr 8:56,546,069...56,569,880 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142 		JBrowse link
G Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:61,259,415...61,347,789
Ensembl chr 8:61,259,477...61,347,789 		JBrowse link
G Ubap1l ubiquitin associated protein 1-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,414,502...64,474,425
Ensembl chr 8:55,519,147...55,577,212 		JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:128,265,160...128,377,830
Ensembl chr 3:107,811,392...107,922,204 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467 		JBrowse link
G Unc13c unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586 		JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111 		JBrowse link
G Usp50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:126,733,276...126,744,130
Ensembl chr 3:106,279,425...106,291,964 		JBrowse link
G Vps39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Wdr76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,456,784...108,491,528
Ensembl chr 3:108,456,815...108,490,840 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630 		JBrowse link
G Whamm WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759 		JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939 		JBrowse link
G Zfp106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481 		JBrowse link
G Zfp280d zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:72,992,655...73,080,482
Ensembl chr 8:72,992,650...73,080,480 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
G Zfp609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977 		JBrowse link
G Zfp710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:17407155 PMID:28492532 NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601 		JBrowse link
G Zfp770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:100,963,430...100,971,663
Ensembl chr 3:100,963,427...100,971,684 		JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969 		JBrowse link
G Zscan2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,833,701...134,848,957
Ensembl chr 1:134,833,871...134,848,952 		JBrowse link
G Zscan29-ps1 zinc finger and SCAN domain containing 29, pseudogene 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,136,468...108,140,431 JBrowse link
G Zwilch zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916 		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 PMID:25741868 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 More... NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO
ISS 		ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: SLC9A6-related condition | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM:300243
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10528855 PMID:15319456 PMID:15358621 PMID:16019685 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
Chromosomal Instability with Tissue-Specific Radiosensitivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Chromosomal instability with tissue-specific radiosensitivity ClinVar PMID:24035193 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
G Asb7 ankyrin repeat and SOCS box-containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282 		JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:129,728,136...129,833,182
Ensembl chr 1:120,318,212...120,422,902 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607 		JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784 		JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135 		JBrowse link
G Mef2a myocyte enhancer factor 2a ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948 		JBrowse link
G Pgpep1l pyroglutamyl-peptidase I-like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407 		JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652 		JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494 		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 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:21290788 PMID:25741868 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
cleft palate, cardiac defects, and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132 		JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288 		JBrowse link
G Cox6c cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:72,707,566...72,814,183
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		JBrowse link
G Kcns2 potassium voltage-gated channel, modifier subfamily S, member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496 		JBrowse link
G Nipal2 NIPA-like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664 		JBrowse link
G Osr2 odd-skipped related transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224 		JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		JBrowse link
G Rgs22 regulator of G-protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,310,947...69,350,567
Ensembl chr 7:67,425,837...67,465,222 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,000,197...71,109,841
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO
ISS 		ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668 		JBrowse link
G Zfp706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte-derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:25741868 PMID:26077850 PMID:33500254 NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 | ClinVar Annotator: match by term: PCDH12-related condition OMIM
ClinVar		 PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 | ClinVar Annotator: match by term: PCDH12-related condition ClinVar PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 More... NCBI chr18:30,381,072...30,406,859
Ensembl chr18:30,131,691...30,155,685 		JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:31690835 PMID:33547280 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,123,471...55,135,971
Ensembl chr10:54,625,642...54,637,258 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565 		JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371 		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
ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome | ClinVar Annotator: match by term: OCULODIGITOESOPHAGODUODENAL SYNDROME | ClinVar Annotator: match by term: ODED SYNDROME 		CTD
ClinVar		 PMID:1459449 PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 More... NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: ODED SYNDROME ClinVar PMID:22335739 PMID:23975875 PMID:25326635 PMID:25589632 PMID:25741868 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Feingold Syndrome 1 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 ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar		 PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: Filippi syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf122 similar to human chromosome 1 open reading frame 122 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition ClinVar PMID:28492532 PMID:31481669 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929 		JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition OMIM
ClinVar		 PMID:28492532 PMID:31481669 PMID:34545459 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:157,289,497...157,290,920
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:16357870 PMID:23849776 PMID:25741868 More... NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		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:16332973 PMID:19734544 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia 		CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 More... NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		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 Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ClinVar PMID:25741868 PMID:39753114 NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 8:20,382,995...20,401,993
Ensembl chr 8:12,101,594...12,120,592 		JBrowse link
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | ClinVar Annotator: match by term: PUS7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859 NCBI chr 4:11,360,169...11,401,139
Ensembl chr 4:11,360,188...11,401,172 		JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome OMIM
ClinVar		 PMID:1642282 PMID:15821733 PMID:16380922 PMID:18411254 PMID:18414213 More... NCBI chr15:44,210,124...44,230,785
Ensembl chr15:40,034,568...40,055,306
Ensembl chr15:40,034,568...40,055,306 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome
ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome 		ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		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
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type | ClinVar Annotator: match by term: UBE3B-related condition
OMIM:244450 		CTD
ClinVar
MouseDO
OMIM		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr12:47,844,368...47,890,702
Ensembl chr12:42,183,760...42,230,094 		JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia | ClinVar Annotator: match by term: PLEKHG2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 PMID:35203342 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063 		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 Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: COX7B-related condition | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Lissencephaly 3 | ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds 		OMIM
ClinVar
CTD
RGD		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... RGD:11067701 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:25741868 NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31389005 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly OMIM
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650 		JBrowse link
Lowry Wood Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, microcephaly and nystagmus | ClinVar Annotator: match by term: Lowry-Wood syndrome ClinVar PMID:10189087 PMID:12605445 PMID:19288552 PMID:21474760 PMID:21474761 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 More... RGD:10045557 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 More... NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686 		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:25741868 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		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: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 | ClinVar Annotator: match by term: Taybi Linder syndrome ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Taybi Linder syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brachymelic primordial dwarfism ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: MOPD I ClinVar PMID:25741868 PMID:26743238 PMID:28492532 PMID:28771489 PMID:30615648 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		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
ISS 		ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | ClinVar Annotator: match by term: PCNT-related condition
OMIM:210720
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism, Type III 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: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE | ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III ClinVar PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: MOPD III ClinVar PMID:25351510 PMID:25741868 PMID:28237968 PMID:28492532 PMID:31195250 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
Microcephaly and Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability ClinVar PMID:25344692 PMID:25741868 PMID:28492532 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive 		CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: TUBGCP6-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5936364 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 More... NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942 		JBrowse link
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: TUBGCP4-related condition ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 PMID:35418825 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: TUBGCP4-related condition OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 More... NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: RBBP8-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18071751 PMID:18414213 PMID:21998596 More... NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
Microcephaly with Simplified Gyral Pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh4 cadherin 4 ISO ClinVar Annotator: match by term: Simplified gyral pattern ClinVar PMID:29706646 NCBI chr 3:166,525,092...167,003,380
Ensembl chr 3:166,525,099...167,003,371 		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:25741868 PMID:28492532 NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Recessive microcephaly with spastic quadriplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,381,072...30,406,859
Ensembl chr18:30,131,691...30,155,685 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 3:93,756,399...93,778,004
Ensembl chr 3:93,756,446...93,769,162 		JBrowse link
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monooxygenase 1 ISO ClinVar Annotator: match by term: MSMO1-related condition | ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar		 PMID:21285510 PMID:24144731 PMID:25741868 PMID:28492532 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30824121 NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:73,259,736...73,375,987
Ensembl chr18:70,989,731...71,100,836 		JBrowse link
G Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:73,431,104...73,520,759
Ensembl chr18:71,157,700...71,243,482 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
G Haus1 HAUS augmin-like complex, subunit 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660 		JBrowse link
G Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,488,315...70,526,471
Ensembl chr18:70,474,926...70,526,470 		JBrowse link
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:9536098 PMID:16972080 PMID:17576681 PMID:21835305 PMID:22991235 More... NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
G Pias2 protein inhibitor of activated STAT, 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:72,883,008...72,989,486
Ensembl chr18:70,607,665...70,710,033 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Siglec15 sialic acid binding Ig-like lectin 15 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,506,416...71,521,894
Ensembl chr18:71,505,399...71,521,881 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:73,840,568...73,883,925
Ensembl chr18:71,565,454...71,595,146 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:28492532 NCBI chr18:70,736,395...70,802,537
Ensembl chr18:70,736,602...70,797,789 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: IER3IP1-related condition | ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 OMIM
ClinVar		 PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 More... NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yipf5 Yip1 domain family, member 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33164986 NCBI chr18:32,123,814...32,136,947
Ensembl chr18:32,123,842...32,157,642 		JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: CTU2-related condition | ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25081361 PMID:25741868 PMID:26633546 More... NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
microcephaly, growth deficiency, seizures, and brain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations | ClinVar Annotator: match by term: WDR4-related condition OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 | ClinVar Annotator: match by term: TOP3A-related condition OMIM
ClinVar		 PMID:25741868 PMID:26689913 PMID:28492532 PMID:30057030 PMID:37013609 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10a tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 | ClinVar Annotator: match by term: TRMT10A-related condition OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More... NCBI chr 2:226,669,445...226,684,166
Ensembl chr 2:226,669,832...226,684,151 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 | ClinVar Annotator: match by term: PPP1R15B-related condition OMIM
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp Stam binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition OMIM
ClinVar		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		JBrowse link
microcephaly-micromelia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Microcephaly-micromelia syndrome OMIM
ClinVar		 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYDRANENCEPHALY AND MICROCEPHALY | ClinVar Annotator: match by term: Hydranencephaly and microcephaly 		OMIM
CTD
ClinVar		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar		 PMID:36333305 NCBI chr 1:243,782,786...243,845,418
Ensembl chr 1:243,782,246...243,845,250 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar		 PMID:36333305 NCBI chr 1:220,769,366...220,839,138
Ensembl chr 1:220,769,366...220,839,096 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
ISS 		ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
OMIM:235730
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,343,078...29,345,943 JBrowse link
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spop speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies | ClinVar Annotator: match by term: SPOP-related condition OMIM
ClinVar		 PMID:25741868 PMID:32109420 NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly OMIM
ClinVar		 PMID:25741868 PMID:31271740 PMID:34918187 PMID:34926941 NCBI chr 9:101,762,899...101,771,733
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM
ClinVar		 PMID:25741868 PMID:30607023 PMID:31363758 NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tti1 TELO2 interacting protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:36724785 NCBI chr 3:146,639,048...146,682,945
Ensembl chr 3:146,639,054...146,682,847 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | ClinVar Annotator: match by term: WARS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34585293 PMID:35790048 PMID:35815345 NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31079899 NCBI chr 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080 		JBrowse link
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ABSENT SPEECH, AND HYPOTONIA OMIM
ClinVar		 PMID:26467025 PMID:39306721 NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 PMID:34837432 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr10:60,031,441...60,090,259
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:26704558 PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:22228622 PMID:22729224 PMID:22949682 PMID:25326635 PMID:25326637 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:121,293,621...121,294,844
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:31904124 PMID:35701389 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31495489 PMID:37880672 NCBI chr11:83,362,534...83,386,257
Ensembl chr11:83,362,534...83,386,250 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ClinVar Annotator: match by term: SARS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:34570399 PMID:35790048 More... NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: GEMIN4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:28492532 PMID:30237576 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dohh deoxyhypusine hydroxylase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar		 PMID:25741868 PMID:35858628 NCBI chr 7:8,321,466...8,326,305
Ensembl chr 7:8,321,466...8,326,289 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmx2 thioredoxin-related transmembrane protein 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | ClinVar Annotator: match by term: TMX2-related condition OMIM
ClinVar		 PMID:25741868 PMID:31586943 PMID:31735293 NCBI chr 3:69,754,937...69,762,587
Ensembl chr 3:69,754,939...69,762,587 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: MTHFS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30031689 PMID:31844630 PMID:35599849 NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560 		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 chr 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 PMID:25741868 NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128 		JBrowse link
G Iah1 isoamyl acetate hydrolyzing esterase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr 6:40,865,530...40,872,747
Ensembl chr 6:40,865,502...40,872,978 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32738225 PMID:32788587 PMID:33001864 More... NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32738225 PMID:39825153 NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures ClinVar PMID:25741868 PMID:35202461 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516 		JBrowse link
G Nsrp1 nuclear speckle splicing regulatory protein 1 ISO OMIM NCBI chr10:61,880,807...61,914,471
Ensembl chr10:61,880,825...61,914,471 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32103185 NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps50 VPS50 subunit of EARP/GARPII complex ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis OMIM
ClinVar		 PMID:25741868 PMID:34037727 NCBI chr 4:31,484,424...31,585,617
Ensembl chr 4:31,484,463...31,585,617 		JBrowse link
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:23545411 PMID:25741868 PMID:27389779 PMID:29395664 PMID:33205896 More... NCBI chr 9:62,853,904...63,247,472
Ensembl chr 9:55,365,203...55,580,327 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | ClinVar Annotator: match by term: PLAA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28007986 PMID:28413018 PMID:28492532 PMID:31322726 NCBI chr 5:109,428,600...109,460,373
Ensembl chr 5:109,428,265...109,460,282 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppfibp1 PPFIA binding protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:35830857 NCBI chr 4:179,807,579...179,951,428
Ensembl chr 4:179,808,794...179,951,428 		JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1887849 PMID:9536098 PMID:10892749 PMID:14684699 PMID:15855896 More... NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396 		JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619 		JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599 		JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,564,348...188,590,872
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353 		JBrowse link
G Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663 		JBrowse link
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571 		JBrowse link
G Zfp697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041 		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
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Porencephaly 		CTD
ClinVar
MouseDO		 PMID:607595 PMID:2211826 PMID:3691802 PMID:7695699 PMID:8218237 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
DNA:mutation:cds:c.2399G>A,p.G800E(human) 		CTD
ClinVar
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:26708157 RGD:13450938 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT ClinVar PMID:25741868 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:27008544 PMID:31327001 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482 		JBrowse link
primary autosomal recessive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:34670123 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO DNA:mutations: :
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human) 		ClinVar
RGD		 PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 More... RGD:13442485, RGD:13442486 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 PMID:27453579 PMID:27503289 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO DNA:deletion mutation:cds:c.3243-46delTCAG (human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly 		ClinVar
RGD		 PMID:18414213 PMID:24033266 PMID:16900296 RGD:11541115 NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO DNA:mutation:cds: c.6125 G>A,p. M2041I(human) RGD PMID:22983954 RGD:9685043 NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915 		JBrowse link
G Mcph1 microcephalin 1 ISO DNA:deletion: :p.R393Sfs*50 (human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:mutations:exon, intron:multiple 		ClinVar
RGD		 PMID:16199547 PMID:18414213 PMID:20978018 PMID:22855649 PMID:25741868 More... RGD:13204748, RGD:13204750 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122 		JBrowse link
G Wdr62 WD repeat domain 62 ISO DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:missense mutation:cds:c.1198G> A(p.E400K)(human) 		ClinVar
RGD		 PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 More... RGD:11541051, RGD:11541056 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054 		JBrowse link
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 More... NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:18414213 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 More... NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868 NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:insertion:exon:c.427insA (human) 		OMIM
ClinVar
CTD
RGD		 PMID:7693575 PMID:9536098 PMID:11857108 PMID:12046007 PMID:15199523 More... RGD:9589022 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024 		JBrowse link
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 | ClinVar Annotator: match by term: ZNF335-related condition OMIM
ClinVar		 PMID:18414213 PMID:19131338 PMID:23178126 PMID:25741868 PMID:27540107 More... NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054 		JBrowse link
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive | ClinVar Annotator: match by term: PHC1-related condition OMIM
ClinVar		 PMID:23418308 PMID:25558065 PMID:25741868 NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959 		JBrowse link
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk6 cyclin-dependent kinase 6 ISO ClinVar Annotator: match by term: CDK6-related condition | ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive OMIM
ClinVar		 PMID:23918663 PMID:25741868 PMID:28492532 NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpe centromere protein E ISO ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive OMIM
ClinVar		 PMID:24748105 PMID:25741868 PMID:28492532 NCBI chr 2:223,637,035...223,695,692
Ensembl chr 2:223,636,998...223,695,669 		JBrowse link
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sass6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive | ClinVar Annotator: match by term: SASS6-related condition OMIM
ClinVar		 PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237 NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927 		JBrowse link
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: MFSD2A-related condition | ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:26005865 PMID:26005868 PMID:28492532 PMID:30043326 More... NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690 		JBrowse link
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: ANKLE2-related condition | ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:28492532 More... NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514 		JBrowse link
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: CIT-related condition | ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 More... NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive ClinVar PMID:2021172 PMID:2215617 PMID:11139241 PMID:18175313 PMID:18385078 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197 		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
ISS 		ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition
OMIM:604317
CTD Direct Evidence: marker/mechanism
DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human)
DNA:mutation:cds:c.390G > A(human)
DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3440221 PMID:9536098 PMID:10573015 PMID:16199547 PMID:17576681 More... RGD:11537475, RGD:11537473, RGD:11537472 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		JBrowse link
primary autosomal recessive microcephaly 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive OMIM
ClinVar		 PMID:23308235 PMID:25741868 PMID:28492532 PMID:28892560 PMID:29343805 More... NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164 		JBrowse link
primary autosomal recessive microcephaly 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020 		JBrowse link
primary autosomal recessive microcephaly 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27737959 PMID:28492532 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373 		JBrowse link
primary autosomal recessive microcephaly 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph non-SMC condensin I complex, subunit H ISO ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPH-related condition OMIM
ClinVar		 PMID:25741868 PMID:27737959 NCBI chr 3:114,371,937...114,399,178
Ensembl chr 3:114,371,941...114,399,180 		JBrowse link
primary autosomal recessive microcephaly 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup37 nucleoporin 37 ISO ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive | ClinVar Annotator: match by term: NUP37-related condition OMIM
ClinVar		 PMID:25741868 PMID:30179222 NCBI chr 7:22,556,544...22,609,622
Ensembl chr 7:22,573,764...22,609,616 		JBrowse link
primary autosomal recessive microcephaly 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc14 trafficking protein particle complex subunit 14 ISO ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive | ClinVar Annotator: match by term: TRAPPC14-related condition OMIM
ClinVar		 PMID:25741868 PMID:30715179 NCBI chr12:17,262,748...17,267,093
Ensembl chr12:17,262,750...17,267,084 		JBrowse link
primary autosomal recessive microcephaly 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive OMIM
ClinVar		 PMID:33199730 NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817 		JBrowse link
primary autosomal recessive microcephaly 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd6ip programmed cell death 6 interacting protein ISO OMIM NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773 		JBrowse link
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:243T>A(p.S81X)(human)
DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human) 		OMIM
ClinVar
CTD
RGD		 PMID:10677332 PMID:15793586 PMID:16199547 PMID:17764569 PMID:18414213 More... RGD:13450905, RGD:11057920 NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782 		JBrowse link
primary autosomal recessive microcephaly 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1 BUB1 mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35044816 NCBI chr 3:115,020,254...115,051,650
Ensembl chr 3:115,020,254...115,051,650 		JBrowse link
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: KNL1-related condition | ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 More... NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915 		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 susceptibility
treatment 		ISO ClinVar Annotator: match by term: ASPM-related condition | ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple 		ClinVar
RGD
CTD
OMIM		 PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 More... RGD:13439744, RGD:1599300, RGD:13439741 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12843329 PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 More... NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive ClinVar PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 PMID:20301772 More... NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024 		JBrowse link
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive | ClinVar Annotator: match by term: STIL-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18414213 PMID:19215732 PMID:20301772 PMID:22989186 PMID:23772360 More... NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730 		JBrowse link
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:22521416 PMID:25741868 PMID:26657937 More... NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772 		JBrowse link
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 More... NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
Ensembl chr 3:112,810,425...112,878,458 		JBrowse link
primary microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase susceptibility ISO DNA:splice-site mutation:intron (c.753+3A>T) (human)
DNA:splice-site mutation:intron (c.753+3A>T|c.1111+1G>A) (human) 		RGD PMID:27519304 PMID:27503289 RGD:11553038, RGD:11553519 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 More... NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607 		JBrowse link
G Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 PMID:26608784 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Tsr1 TSR1, ribosome maturation factor ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr10:59,760,420...59,771,868
Ensembl chr10:59,760,409...59,771,864 		JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852 		JBrowse link
G Camp cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543 		JBrowse link
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969 		JBrowse link
G Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664 		JBrowse link
G Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:110,925,024...110,930,308 		JBrowse link
G Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758 		JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568 		JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381 		JBrowse link
G Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067 		JBrowse link
G Fbxw12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813 		JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166 		JBrowse link
G Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252 		JBrowse link
G Klhl18 kelch-like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		JBrowse link
G Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714 		JBrowse link
G Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185 		JBrowse link
G Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,264,098...109,264,188 JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634 		JBrowse link
G Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,743,470...109,769,153
Ensembl chr 8:109,744,697...109,769,027 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628 		JBrowse link
G Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,842,525...110,848,855
Ensembl chr 8:110,842,671...110,848,802 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359 		JBrowse link
G Rtp3 receptor (chemosensory) transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699 		JBrowse link
G Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413 		JBrowse link
G Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
G Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720 		JBrowse link
G Spink8 serine peptidase inhibitor, Kazal type 8 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994 		JBrowse link
G Tma7 translation machinery associated 7 homolog ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499 		JBrowse link
G Xcr1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,479,454...123,516,168
Ensembl chr 8:123,479,590...123,487,226 		JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 More... NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... RGD:11560486 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar		 PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		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)
ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404, RGD:10053614 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
Ensembl chr 3:112,810,425...112,878,458 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Seckel syndrome 1 ClinVar PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		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 chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seckel syndrome 2 		OMIM
CTD
ClinVar		 PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 More... NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: CENPJ-related disorder | ClinVar Annotator: match by term: Seckel syndrome 4
DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human) 		OMIM
ClinVar
RGD		 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... RGD:11541118, RGD:11541114 NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More... NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024 		JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
severe combined immunodeficiency 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 124, SEVERE COMBINED | ClinVar Annotator: match by term: NHEJ1 SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
Short Stature and Microcephaly with Genital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: CENPT-related condition | ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29228025 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		JBrowse link
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies OMIM
ClinVar		 PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064 More... NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399 		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 chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675 		JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition OMIM
ClinVar		 PMID:24907849 PMID:25741868 PMID:28492532 PMID:32737394 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction ClinVar PMID:11118202 PMID:22232082 PMID:25741868 PMID:26046366 PMID:26845104 More... NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition OMIM
ClinVar		 PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 More... NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808 		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
ISS 		ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
OMIM:616657 		OMIM
ClinVar
MouseDO		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NANS-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type 		OMIM
CTD
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: NANS-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:65,596,149...65,620,434
Ensembl chr 5:60,800,032...60,824,858 		JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: CENPF-related condition | ClinVar Annotator: match by term: Stromme syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:28407396 More... NCBI chr13:103,715,344...103,760,931
Ensembl chr13:101,184,127...101,229,669 		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:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:13,282,431...13,402,254
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601 		JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:9,079,016...9,084,696
Ensembl chr  X:9,080,254...9,081,240 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type ClinVar PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240 		JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
TIMES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO ClinVar Annotator: match by term: Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature OMIM
ClinVar		 PMID:39623139 NCBI chr14:4,223,901...4,315,590
Ensembl chr14:4,227,832...4,315,249 		JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		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		 PMID:25741868 PMID:28492532 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		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 PMID:28492532 PMID:35196747 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		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		 PMID:25741868 PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: Warburg micro syndrome 1 OMIM
ClinVar		 PMID:8249951 PMID:9536098 PMID:15216542 PMID:15216543 PMID:15696165 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO
ISS 		ClinVar Annotator: match by term: RAB18-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM:614222 		OMIM
ClinVar
MouseDO		 PMID:18414213 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 More... NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO
ISS 		ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM:615663 		OMIM
ClinVar
MouseDO		 PMID:24239381 PMID:25741868 PMID:28492532 PMID:32740904 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Warburton Anyane Yeboa Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: ARNT2-related condition | ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar		 PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153 		JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
Zaki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wls Wnt ligand secretion mediator ISO
ISS 		ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome
OMIM:619648 		OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 2:248,931,885...249,047,248
Ensembl chr 2:248,931,903...249,048,298 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    physical disorder 5203
      congenital nervous system abnormality 1538
        microcephaly 1146
          3p deletion syndrome 39
          Absent Eyebrows and Eyelashes with Mental Retardation 0
          Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
          Al-Raqad Syndrome 1
          Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
          Amish Lethal Microcephaly 1
          Aphalangia Syndactyly Microcephaly 0
          Arboleda-Tham syndrome 1
          Asparagine Synthetase Deficiency 2
          Ataxia-Microcephaly-Cataract Syndrome 0
          Baetz-Greenwalt Syndrome 0
          Baralle-Macken Syndrome 1
          Basel-Vanagaite-Smirin-Yosef syndrome 1
          Battaglia Neri Syndrome 0
          Beaulieu-Boycott-Innes Syndrome 2
          Boudhina Yedes Khiari syndrome 0
          Brachydactyly, Type A2, With Microcephaly 0
          Branchial Arch Syndrome X-Linked 0
          Bullous Dystrophy, Hereditary Macular Type 0
          CAMFAK Syndrome 0
          CK syndrome 1
          Cardiofacioneurodevelopmental Syndrome 1
          Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
          Christianson syndrome 15
          Chromosomal Instability with Tissue-Specific Radiosensitivity 1
          Cohen syndrome 37
          Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
          Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
          Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
          Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
          Dubowitz syndrome 0
          Ellis Yale Winter Syndrome 0
          Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
          FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 1
          Faundes-Banka Syndrome 15
          Feingold syndrome + 2
          Filippi syndrome 1
          Forsythe-Wakeling Syndrome 0
          GOMBO Syndrome 0
          Galloway-Mowat syndrome + 13
          Hadziselimovic Syndrome 0
          Halal Syndrome 0
          Hersh Podruch Weisskopf Syndrome 0
          Heyn-Sproul-Jackson Syndrome 1
          Hoyeraal Hreidarsson Syndrome 7
          Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
          Hypospadias-Mental Retardation Syndrome 0
          Jorgenson Lenz Syndrome 0
          Juberg Hayward Syndrome 10
          Kaufman oculocerebrofacial syndrome 1
          LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 2
          Lambotte Syndrome 0
          Lowry Wood Syndrome 1
          MEHMO syndrome 1
          MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
          MacDermot Winter Syndrome 0
          Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
          Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
          Microcephalic Osteodysplastic Primordial Dwarfism + 6
          Microcephalic Primordial Dwarfism Toriello Type 0
          Microcephaly Albinism Digital Anomalies Syndrome 0
          Microcephaly Deafness Syndrome 0
          Microcephaly Microphthalmos Blindness 0
          Microcephaly Nonsyndromal 0
          Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
          Microcephaly Seizures Genital Hypoplasia 0
          Microcephaly Seizures Mental Retardation Heart Disorders 0
          Microcephaly Sparse Hair Mental Retardation Seizures 0
          Microcephaly and Chorioretinopathy + 5
          Microcephaly with Cervical Spine Fusion Anomalies 0
          Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
          Microcephaly with Chorioretinopathy, Autosomal Dominant 0
          Microcephaly with Mental Retardation and Digital Anomalies 1
          Microcephaly with Simplified Gyral Pattern 1
          Microcephaly with Spastic Quadriplegia 2
          Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
          Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
          Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 0
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          Microcephaly, Epilepsy, and Diabetes Syndrome + 19
          Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
          Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange + 465
          Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
          Microcephaly, Macrotia, and Mental Retardation 0
          Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
          Microcephaly, Short Stature, and Impaired Glucose Metabolism + 2
          Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
          Microcephaly-Capillary Malformation Syndrome 1
          Microhydranencephaly 1
          Microphthalmia and Mental Deficiency 0
          Milner Khallouf Gibson Syndrome 0
          Mirhosseini-Holmes-Walton Syndrome 0
          Mosaic Variegated Aneuploidy Syndrome 5 1
          Mosaic Variegated Aneuploidy Syndrome 6 1
          Mowat-Wilson syndrome 11
          Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
          NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY 1
          NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 27
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES 4
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES 2
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY 1
          NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS 1
          Nabais Sa-de Vries Syndrome, Type 1 1
          Neu-Laxova syndrome 1 2
          Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 1
          Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
          Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment 1
          Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 1
          Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
          Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 1
          Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 1
          Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 3
          Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities 1
          Nijmegen Breakage Syndrome-Like Disorder 1
          Oculopalatocerebral Syndrome 0
          Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
          PHGDH deficiency 11
          PSAT deficiency 1
          Paine Syndrome 0
          Partington Anderson Syndrome 0
          Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 65
          Raine Syndrome 1
          Rajab Interstitial Lung Disease with Brain Calcifications 1 1
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
          SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
          SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
          Sammartino De Crecchio Syndrome 0
          Say Syndrome 0
          Say-Barber-Miller Syndrome 0
          Schimke X-Linked Mental Retardation Syndrome 0
          Seckel Syndrome 3 0
          Seckel syndrome 1 4
          Seckel syndrome 2 2
          Seckel syndrome 4 2
          Secretory Diarrhea, Myopathy, and Deafness 0
          Seemanova Lesny Syndrome 0
          Seizures, Cortical Blindness, and Microcephaly Syndrome 1
          Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 0
          Short Stature and Microcephaly with Genital Anomalies 1
          Silengo Lerone Pelizza Syndrome 0
          Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
          Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
          Stromme syndrome 1
          TIMES Syndrome 1
          Teebi Kaurah Syndrome 0
          Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 0
          Total Anonychia with Microcephaly 0
          Trichodental Syndrome 0
          Tsukahara Syndrome 1
          Warburg micro syndrome + 4
          Warburton Anyane Yeboa Syndrome 1
          Webb-Dattani Syndrome 1
          Wiedemann-Steiner syndrome 4
          Winship Viljoen Leary Syndrome 0
          Zaki syndrome 1
          Zerres Rietschel Majewski Syndrome 0
          achalasia microcephaly syndrome 0
          autosomal dominant microcephaly 0
          chromosome 15q26-qter deletion syndrome 14
          chromosome 17p13.1 deletion syndrome 0
          cleft palate, cardiac defects, and intellectual disability 1
          hypertelorism, microtia, facial clefting syndrome 0
          infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 2
          intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
          linear skin defects with multiple congenital anomalies 2 1
          lissencephaly 3 + 3
          lissencephaly 4 3
          lissencephaly 6 1
          mandibulofacial dysostosis, Guion-Almeida type 1
          microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
          microcephaly, growth deficiency, seizures, and brain malformations 1
          microcephaly, seizures, and developmental delay 2
          microcephaly-micromelia syndrome 1
          neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 1
          neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
          pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
          porencephaly + 3
          primary microcephaly + 45
          pseudo-TORCH syndrome 1 1
          severe combined immunodeficiency 124 1
          spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
          spondyloepimetaphyseal dysplasia, Genevieve-type 2
          syndromic X-linked intellectual disability Najm type 12
          syndromic X-linked intellectual disability Shrimpton type 0
          syndromic microphthalmia 13 1
          syndromic microphthalmia 8 0
Path 2
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10965
            autosomal genetic disease 10454
              autosomal dominant disease 6803
                complex cortical dysplasia with other brain malformations 1643
                  Malformations of Cortical Development, Group I 1398
                    microcephaly 1146
                      3p deletion syndrome 39
                      Absent Eyebrows and Eyelashes with Mental Retardation 0
                      Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
                      Al-Raqad Syndrome 1
                      Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
                      Amish Lethal Microcephaly 1
                      Aphalangia Syndactyly Microcephaly 0
                      Arboleda-Tham syndrome 1
                      Asparagine Synthetase Deficiency 2
                      Ataxia-Microcephaly-Cataract Syndrome 0
                      Baetz-Greenwalt Syndrome 0
                      Baralle-Macken Syndrome 1
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
                      Battaglia Neri Syndrome 0
                      Beaulieu-Boycott-Innes Syndrome 2
                      Boudhina Yedes Khiari syndrome 0
                      Brachydactyly, Type A2, With Microcephaly 0
                      Branchial Arch Syndrome X-Linked 0
                      Bullous Dystrophy, Hereditary Macular Type 0
                      CAMFAK Syndrome 0
                      CK syndrome 1
                      Cardiofacioneurodevelopmental Syndrome 1
                      Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                      Christianson syndrome 15
                      Chromosomal Instability with Tissue-Specific Radiosensitivity 1
                      Cohen syndrome 37
                      Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
                      Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
                      Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
                      Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 2
                      Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                      Dubowitz syndrome 0
                      Ellis Yale Winter Syndrome 0
                      Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
                      FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 1
                      Faundes-Banka Syndrome 15
                      Feingold syndrome + 2
                      Filippi syndrome 1
                      Forsythe-Wakeling Syndrome 0
                      GOMBO Syndrome 0
                      Galloway-Mowat syndrome + 13
                      Hadziselimovic Syndrome 0
                      Halal Syndrome 0
                      Hersh Podruch Weisskopf Syndrome 0
                      Heyn-Sproul-Jackson Syndrome 1
                      Hoyeraal Hreidarsson Syndrome 7
                      Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
                      Hypospadias-Mental Retardation Syndrome 0
                      Jorgenson Lenz Syndrome 0
                      Juberg Hayward Syndrome 10
                      Kaufman oculocerebrofacial syndrome 1
                      LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 2
                      Lambotte Syndrome 0
                      Lowry Wood Syndrome 1
                      MEHMO syndrome 1
                      MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
                      MacDermot Winter Syndrome 0
                      Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
                      Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
                      Microcephalic Osteodysplastic Primordial Dwarfism + 6
                      Microcephalic Primordial Dwarfism Toriello Type 0
                      Microcephaly Albinism Digital Anomalies Syndrome 0
                      Microcephaly Deafness Syndrome 0
                      Microcephaly Microphthalmos Blindness 0
                      Microcephaly Nonsyndromal 0
                      Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
                      Microcephaly Seizures Genital Hypoplasia 0
                      Microcephaly Seizures Mental Retardation Heart Disorders 0
                      Microcephaly Sparse Hair Mental Retardation Seizures 0
                      Microcephaly and Chorioretinopathy + 5
                      Microcephaly with Cervical Spine Fusion Anomalies 0
                      Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
                      Microcephaly with Chorioretinopathy, Autosomal Dominant 0
                      Microcephaly with Mental Retardation and Digital Anomalies 1
                      Microcephaly with Simplified Gyral Pattern 1
                      Microcephaly with Spastic Quadriplegia 2
                      Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                      Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 1
                      Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 0
                      Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                      Microcephaly, Epilepsy, and Diabetes Syndrome + 19
                      Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
                      Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange + 465
                      Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                      Microcephaly, Macrotia, and Mental Retardation 0
                      Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
                      Microcephaly, Short Stature, and Impaired Glucose Metabolism + 2
                      Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
                      Microcephaly-Capillary Malformation Syndrome 1
                      Microhydranencephaly 1
                      Microphthalmia and Mental Deficiency 0
                      Milner Khallouf Gibson Syndrome 0
                      Mirhosseini-Holmes-Walton Syndrome 0
                      Mosaic Variegated Aneuploidy Syndrome 5 1
                      Mosaic Variegated Aneuploidy Syndrome 6 1
                      Mowat-Wilson syndrome 11
                      Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
                      NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY 1
                      NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 27
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES 4
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES 2
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS 1
                      Nabais Sa-de Vries Syndrome, Type 1 1
                      Neu-Laxova syndrome 1 2
                      Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 1
                      Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
                      Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment 1
                      Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 1
                      Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
                      Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 1
                      Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 1
                      Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 3
                      Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities 1
                      Nijmegen Breakage Syndrome-Like Disorder 1
                      Oculopalatocerebral Syndrome 0
                      Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                      PHGDH deficiency 11
                      PSAT deficiency 1
                      Paine Syndrome 0
                      Partington Anderson Syndrome 0
                      Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 65
                      Raine Syndrome 1
                      Rajab Interstitial Lung Disease with Brain Calcifications 1 1
                      SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
                      SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
                      SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
                      Sammartino De Crecchio Syndrome 0
                      Say Syndrome 0
                      Say-Barber-Miller Syndrome 0
                      Schimke X-Linked Mental Retardation Syndrome 0
                      Seckel Syndrome 3 0
                      Seckel syndrome 1 4
                      Seckel syndrome 2 2
                      Seckel syndrome 4 2
                      Secretory Diarrhea, Myopathy, and Deafness 0
                      Seemanova Lesny Syndrome 0
                      Seizures, Cortical Blindness, and Microcephaly Syndrome 1
                      Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 0
                      Short Stature and Microcephaly with Genital Anomalies 1
                      Silengo Lerone Pelizza Syndrome 0
                      Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                      Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
                      Stromme syndrome 1
                      TIMES Syndrome 1
                      Teebi Kaurah Syndrome 0
                      Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 0
                      Total Anonychia with Microcephaly 0
                      Trichodental Syndrome 0
                      Tsukahara Syndrome 1
                      Warburg micro syndrome + 4
                      Warburton Anyane Yeboa Syndrome 1
                      Webb-Dattani Syndrome 1
                      Wiedemann-Steiner syndrome 4
                      Winship Viljoen Leary Syndrome 0
                      Zaki syndrome 1
                      Zerres Rietschel Majewski Syndrome 0
                      achalasia microcephaly syndrome 0
                      autosomal dominant microcephaly 0
                      chromosome 15q26-qter deletion syndrome 14
                      chromosome 17p13.1 deletion syndrome 0
                      cleft palate, cardiac defects, and intellectual disability 1
                      hypertelorism, microtia, facial clefting syndrome 0
                      infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 2
                      intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
                      linear skin defects with multiple congenital anomalies 2 1
                      lissencephaly 3 + 3
                      lissencephaly 4 3
                      lissencephaly 6 1
                      mandibulofacial dysostosis, Guion-Almeida type 1
                      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
                      microcephaly, growth deficiency, seizures, and brain malformations 1
                      microcephaly, seizures, and developmental delay 2
                      microcephaly-micromelia syndrome 1
                      neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 1
                      neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
                      pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
                      porencephaly + 3
                      primary microcephaly + 45
                      pseudo-TORCH syndrome 1 1
                      severe combined immunodeficiency 124 1
                      spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
                      spondyloepimetaphyseal dysplasia, Genevieve-type 2
                      syndromic X-linked intellectual disability Najm type 12
                      syndromic X-linked intellectual disability Shrimpton type 0
                      syndromic microphthalmia 13 1
                      syndromic microphthalmia 8 0
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