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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal cerebral subcortex morphology
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Accession:HP:0010993 term browser browse the term
Definition:An abnormality of the cerebral subcortex.
Comment:The cerebral subcortex contains the basal ganglia and the cerebral white matter.
Synonyms:exact_synonym: Abnormality of the cerebral medulla;   Abnormality of the cerebral subcortex
 xref: UMLS:C4021207


show annotations for term's descendants           Sort by:
Abnormal basal ganglia morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300816 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO ORPHA:67046 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Abnormal basal ganglia morphology ClinVar PMID:12358323 PMID:18321866 PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Basal ganglia disease ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO MIM:602081 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GSX2 GS homeobox 2 IAGP HPO MIM:618646 NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO ORPHA:391428 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP ClinVar Annotator: match by term: Abnormality of the basal ganglia ClinVar PMID:24686847 PMID:24995871 PMID:25741868 PMID:26833990 PMID:28492532 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO ORPHA:157941 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP HPO MIM:607483 ORPHA:263410 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO MIM:612073 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO MIM:609560 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Abnormal basal ganglia morphology ClinVar PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Abnormal basal ganglia MRI signal intensity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO MIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:79326 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314918 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:12358323 PMID:18321866 PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP HPO ORPHA:51188 NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230 		JBrowse link
G FASTKD2 FAST kinase domains 2 IAGP HPO MIM:618855 NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GTPBP3 GTP binding protein 3, mitochondrial IAGP HPO ORPHA:444013 NCBI chr19:17,334,982...17,342,731
Ensembl chr19:17,334,920...17,342,731 		JBrowse link
G MFF mitochondrial fission factor IAGP HPO ORPHA:485421 NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO ORPHA:401768 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 IAGP HPO MIM:620646 NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar
HPO		 PMID:25741868 ORPHA:644 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:25741868 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:24785942 PMID:25741868 PMID:32581362 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
Abnormal caudate nucleus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:314632 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G DCX doublecortin IAGP HPO ORPHA:2148 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:209908 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP DNA:transversion: :m.8993T>G RGD PMID:14598233 RGD:5490291 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
Abnormal cerebral white matter morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO MIM:300100 ORPHA:369942 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain IAGP HPO MIM:201470 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACO2 aconitase 2 IAGP HPO MIM:614559 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273 		JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO MIM:618960 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447753 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:280071 NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 IAGP HPO MIM:618587 NCBI chr 3:184,174,855...184,184,091
Ensembl chr 3:184,174,689...184,184,214 		JBrowse link
G ARSA arylsulfatase A IAGP HPO MIM:250100 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO MIM:250950 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO MIM:615287 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO ORPHA:369942 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO MIM:617755 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:477774 NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:100070 ORPHA:275864 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP HPO ORPHA:485350 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:370980 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:221820 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO ORPHA:411629 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CUL4B cullin 4B IAGP HPO MIM:300354 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO MIM:615030 ORPHA:320411 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO ORPHA:100986 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO ORPHA:84081 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:28327206 PMID:29100085 PMID:32581362 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO ORPHA:314404 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DPYS dihydropyrimidinase IAGP HPO MIM:222748 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter HPO
ClinVar		 PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... MIM:620315 NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP HPO MIM:615683 ORPHA:401810 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266 		JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:75857 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G FBP2 fructose-bisphosphatase 2 IAGP HPO MIM:619864 NCBI chr 9:94,558,720...94,593,824
Ensembl chr 9:94,558,720...94,593,824 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:606612 MIM:613153 ORPHA:370980 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:613152 ORPHA:370980 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP HPO MIM:618885 NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122 		JBrowse link
G GATAD2B GATA zinc finger domain containing 2B IAGP HPO ORPHA:363686 NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP HPO MIM:263570 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363717 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO MIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:25741868 PMID:34375587 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:100070 ORPHA:275864 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:617268 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO MIM:246450 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP HPO MIM:619026 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G HTT huntingtin IAGP HPO ORPHA:248111 ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:24686847 PMID:24995871 PMID:25741868 PMID:26833990 PMID:28492532 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Leukoaraiosis
ClinVar Annotator: match by term: Abnormality of the cerebral white matter		 ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO MIM:618596 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KIF1C kinesin family member 1C IAGP HPO ORPHA:397946 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IAGP HPO MIM:618512 NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO MIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMB1 laminin subunit beta 1 IAGP HPO MIM:615191 ORPHA:352682 NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
G LIG3 DNA ligase 3 IAGP HPO ORPHA:298 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP HPO MIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO MIM:164310 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO MIM:619486 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:100070 ORPHA:275864 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO MIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Leukoaraiosis
ClinVar Annotator: match by term: Abnormality of the cerebral white matter		 ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:12652570 PMID:23321498 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MRPL12 mitochondrial ribosomal protein L12 IAGP HPO MIM:618951 NCBI chr17:81,703,367...81,707,517
Ensembl chr17:81,703,367...81,707,517 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP HPO MIM:614947 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTM1 myotubularin 1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:25741868 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO MIM:607432 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614871 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614877 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO MIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO MIM:608703 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:613662 ORPHA:254886 ORPHA:298 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370980 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO ORPHA:457279 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G PRF1 perforin 1 IAGP HPO ORPHA:540 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO MIM:617481 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO ORPHA:100070 ORPHA:275864 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO MIM:610329 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:298 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:159550 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO MIM:617938 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO ORPHA:500166 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIN3B SIN3 transcription regulator family member B IAGP HPO ORPHA:500166 NCBI chr19:16,829,398...16,880,349
Ensembl chr19:16,829,398...16,880,353 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP HPO MIM:618384 NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO MIM:615905 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO MIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP HPO MIM:619268 NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:602099 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO MIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:275864 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 IAGP HPO MIM:618886 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203 		JBrowse link
G STX11 syntaxin 11 IAGP HPO ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase IAGP HPO ORPHA:35706 NCBI chr 7:40,135,005...41,038,816
Ensembl chr 7:40,135,005...40,860,763 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:88644 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Leukoaraiosis
ClinVar Annotator: match by term: Abnormality of the cerebral white matter		 ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO MIM:300957 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO MIM:617698 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO ORPHA:100070 ORPHA:275864 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO MIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:84081 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TRAPPC9 trafficking protein particle complex subunit 9 IAGP HPO MIM:613192 NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:100070 ORPHA:275864 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO MIM:277470 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO ORPHA:391307 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO ORPHA:298 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO ORPHA:540 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:401795 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:100070 ORPHA:275864 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP HPO MIM:607317 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
Abnormal corpus callosum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:442835 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACTL6B actin like 6B IAGP HPO ORPHA:442835 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO ORPHA:412069 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO ORPHA:442835 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO MIM:614607 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ASTN1 astrotactin 1 IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum
ClinVar Annotator: match by term: Abnormal corpus callosum morphology		 ClinVar PMID:25741868 PMID:29706646 NCBI chr 1:176,857,321...177,164,712
Ensembl chr 1:176,857,302...177,164,973 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP ClinVar Annotator: match by term: Corpus callosum abnormality ClinVar PMID:21706002 PMID:25741868 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:442835 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:442835 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:442835 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 More... NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:442835 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO ORPHA:442835 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO ORPHA:442835 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP HPO ORPHA:442835 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:280195 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP HPO ORPHA:442835 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CLTC clathrin heavy chain IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar
HPO		 PMID:25741868 ORPHA:442835 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP HPO ORPHA:442835 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP DNA:SNP:exon:c.326A>G (rs2070106) RGD PMID:22473874 RGD:6483331 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:280195 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP HPO ORPHA:442835 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO ORPHA:442835 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:280195 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO MIM:618709 ORPHA:280195 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DNM1 dynamin 1 IAGP HPO ORPHA:442835 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP HPO ORPHA:442835 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO ORPHA:442835 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO ORPHA:442835 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:280195 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO ORPHA:442835 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:280195 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FZR1 fizzy and cell division cycle 20 related 1 IAGP HPO ORPHA:442835 NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO ORPHA:442835 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP HPO ORPHA:442835 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP HPO ORPHA:442835 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP HPO ORPHA:442835 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:442835 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:280195 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:280195 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP HPO ORPHA:442835 NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:442835 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar PMID:25741868 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP HPO ORPHA:442835 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP HPO ORPHA:442835 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 IAGP HPO ORPHA:442835 NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:293181 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO ORPHA:293181 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO ORPHA:319182 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IAGP HPO MIM:618512 NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar PMID:28492532 PMID:29706646 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO ORPHA:457485 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MYCBP2 MYC binding protein 2 IAGP DNA:mutations:cds: RGD PMID:36200388 RGD:596936241 NCBI chr13:77,044,657...77,327,094
Ensembl chr13:77,042,474...77,327,094 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP HPO ORPHA:442835 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:280195 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP HPO ORPHA:442835 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO ORPHA:442835 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO ORPHA:95232 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:442835 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:293181 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PLCB1 phospholipase C beta 1 IAGP HPO ORPHA:293181 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280229 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO ORPHA:457279 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO ORPHA:442835 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:280195 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO ORPHA:512260 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO MIM:611560 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:293181 ORPHA:442835 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:293181 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO ORPHA:442835 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO ORPHA:442835 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:280195 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:280195 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 IAGP HPO ORPHA:293181 NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO ORPHA:442835 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO ORPHA:442835 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:293181 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP HPO ORPHA:442835 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO MIM:614608 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar PMID:25741868 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO MIM:609528 ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:280195 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:442835 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:442835 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP HPO ORPHA:442835 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:293181 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:280195 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TRAK1 trafficking kinesin protein 1 IAGP HPO ORPHA:442835 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,624...42,225,890 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:467166 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 ORPHA:467166 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:467166 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO ORPHA:442835 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:442835 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP HPO ORPHA:442835 NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:280195 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Abnormal corpus striatum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO ORPHA:238329 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G JPH3 junctophilin 3 IAGP HPO ORPHA:98934 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:2177 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G PDE10A phosphodiesterase 10A IAGP HPO MIM:616922 ORPHA:494541 NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
Abnormal globus pallidus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Abnormal globus pallidus morphology ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO ORPHA:320411 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Abnormal globus pallidus morphology ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase IAGP HPO ORPHA:33 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO MIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Abnormal globus pallidus morphology ClinVar PMID:25741868 PMID:30755392 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
Abnormal periventricular white matter morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447760 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO MIM:615686 ORPHA:401805 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO MIM:614066 ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO ORPHA:280763 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO MIM:617225 ORPHA:513436 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:619835 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:611773 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP HPO MIM:618404 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO MIM:618992 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO MIM:612319 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206436 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363722 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP HPO MIM:616881 NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943 		JBrowse link
G ISCA2 iron-sulfur cluster assembly 2 IAGP HPO MIM:616370 NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP HPO MIM:619725 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP HPO MIM:615960 NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:608840 ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LYRM7 LYR motif containing 7 IAGP HPO MIM:615838 NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO MIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:249900 MIM:611721 ORPHA:206436 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO MIM:617784 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO MIM:613811 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO MIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP HPO ORPHA:370927 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase IAGP HPO ORPHA:35706 NCBI chr 7:40,135,005...41,038,816
Ensembl chr 7:40,135,005...40,860,763 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:272200 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:192315 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO MIM:277470 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
Abnormal putamen morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP HPO ORPHA:88619 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Abnormal substantia nigra morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 IAGP HPO ORPHA:98756 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Abnormality of the substantia nigra ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
Abnormality of the anterior commissure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP85L centrosomal protein 85 like IAGP HPO ORPHA:572013 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO MIM:617542 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO ORPHA:572013 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
Abnormality of the internal capsule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:467166 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:467166 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:467166 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Agenesis of corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase IAGP HPO MIM:613163 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G ACTB actin beta IAGP HPO MIM:243310 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO MIM:614583 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO MIM:615286 ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:220493 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:228390 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP HPO MIM:616681 ORPHA:2512 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832 		JBrowse link
G AP1G1 adaptor related protein complex 1 subunit gamma 1 IAGP HPO MIM:619548 NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar
HPO		 PMID:25741868 PMID:30349098 PMID:34706719 ORPHA:1465 ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:617622 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO ORPHA:3157 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ARX aristaless related homeobox IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar
HPO		 PMID:25741868 MIM:300004 MIM:300215 ORPHA:2508 ORPHA:452 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP HPO MIM:608716 ORPHA:2512 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO MIM:615287 ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:139471 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BORCS5 BLOC-1 related complex subunit 5 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:27435318 NCBI chr12:12,357,078...12,471,233
Ensembl chr12:12,357,078...12,471,233 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP HPO MIM:218340 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP HPO MIM:620316 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:619111 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CDC40 cell division cycle 40 IAGP HPO MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar Annotator: match by term: Dysplastic or absent corpus callosum		 ClinVar
HPO		 PMID:25741868 PMID:31585109 MIM:618929 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP HPO MIM:617360 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CDK5 cyclin dependent kinase 5 IAGP HPO MIM:616342 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 IAGP DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human) HPO
RGD		 PMID:23587236 ORPHA:2512, RGD:11057920 NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170 		JBrowse link
G CDK6 cyclin dependent kinase 6 IAGP HPO ORPHA:2512 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573 		JBrowse link
G CDK8 cyclin dependent kinase 8 IAGP HPO MIM:618748 NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO MIM:614226 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CENPE centromere protein E IAGP HPO ORPHA:2512 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445 		JBrowse link
G CENPF centromere protein F IAGP HPO MIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:220493 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP135 centrosomal protein 135 IAGP HPO ORPHA:2512 NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO ORPHA:2512 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:220493 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CEP63 centrosomal protein 63 IAGP HPO ORPHA:2512 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CFC1 cryptic, EGF-CFC family member 1 IAGP HPO MIM:605376 NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP HPO MIM:617090 ORPHA:2512 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO MIM:618500 ORPHA:556955 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar
HPO		 PMID:16199547 PMID:23225343 PMID:25741868 PMID:28492532 ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO ORPHA:2512 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:300887 MIM:309801 ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM:277170 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:608836 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Corpus callosum agenesis HPO
ClinVar		 PMID:12070251 PMID:12114483 PMID:16359492 PMID:17052327 PMID:18792986 More... MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO MIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G CWF19L1 CWF19 like cell cycle control factor 1 IAGP HPO ORPHA:453521 NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DCC DCC netrin 1 receptor IAGP ClinVar Annotator: match by term: Dysplastic or absent corpus callosum
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar Annotator: match by term: Corpus callosum agenesis		 ClinVar
HPO		 PMID:24808016 PMID:25741868 PMID:25763452 PMID:28250454 PMID:29366874 More... MIM:157600 MIM:617542 ORPHA:238722 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DCX doublecortin IAGP HPO MIM:300067 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO MIM:174300 ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP ClinVar Annotator: match by term: Dysplastic or absent corpus callosum ClinVar
HPO		 PMID:31256877 MIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO MIM:267000 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DNAL4 dynein axonemal light chain 4 IAGP HPO ORPHA:238722 NCBI chr22:38,778,508...38,794,143
Ensembl chr22:38,778,508...38,794,198 		JBrowse link
G DNM1 dynamin 1 IAGP HPO MIM:620352 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO MIM:274270 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO MIM:619435 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 IAGP HPO MIM:618492 NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO MIM:613091 ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:96147 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EML1 EMAP like 1 IAGP HPO MIM:600348 NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060 		JBrowse link
G EMX2 empty spiracles homeobox 2 IAGP HPO MIM:269160 NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546 		JBrowse link
G EOMES eomesodermin IAGP HPO ORPHA:171703 NCBI chr 3:27,715,953...27,722,713
Ensembl chr 3:27,715,949...27,722,711 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar
HPO		 PMID:25741868 MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO MIM:242840 ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO MIM:616570 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP ClinVar Annotator: match by term: Corpus callosum agenesis HPO
ClinVar		 PMID:18414213 PMID:26076356 PMID:26197979 MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCI FA complementation group I IAGP HPO MIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FCSK fucose kinase IAGP HPO MIM:618324 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:147950 MIM:613001 MIM:615465 ORPHA:220386 ORPHA:2396 ORPHA:280200 ORPHA:3157 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 MIM:123790 ORPHA:87 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FH fumarate hydratase IAGP HPO MIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:236670 MIM:613153 ORPHA:370959 ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:236670 MIM:253800 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO MIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO ORPHA:261144 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO ORPHA:466688 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G FZD3 frizzled class receptor 3 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP HPO MIM:208530 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO MIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 IAGP HPO MIM:231950 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
G GLDC glycine decarboxylase IAGP HPO MIM:605899 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:175700 ORPHA:380 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPX4 glutathione peroxidase 4 IAGP HPO ORPHA:93317 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO MIM:309801 ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO MIM:182230 ORPHA:226307 ORPHA:3157 ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP HPO MIM:250620 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP HPO ORPHA:238769 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO MIM:616854 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO MIM:300472 ORPHA:52055 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:220493 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO MIM:606170 ORPHA:85201 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KDM4B lysine demethylase 4B IAGP HPO MIM:619320 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,611 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:617127 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO MIM:619501 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO MIM:616258 MIM:617914 ORPHA:2512 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G KIF4A kinesin family member 4A IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr  X:70,290,104...70,420,886
Ensembl chr  X:70,290,104...70,420,886 		JBrowse link
G KIF7 kinesin family member 7 IAGP DNA:missense,frameshift mutations:cds: HPO
RGD		 PMID:21552264 MIM:200990 MIM:607131 MIM:614120 ORPHA:166024 ORPHA:2189, RGD:11068757 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KNL1 kinetochore scaffold 1 IAGP HPO ORPHA:2512 NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 ORPHA:3339 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO MIM:303350 MIM:307000 ORPHA:2182 ORPHA:2466 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LMNB2 lamin B2 IAGP HPO MIM:616540 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LOC121392929 Sharpr-MPRA regulatory region 9619 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr11:74,138,624...74,138,918 JBrowse link
G LOC126805688 BRD4-independent group 4 enhancer GRCh37_chr1:33251929-33253128 IAGP ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:29232904 NCBI chr 1:32,786,328...32,787,527 JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO MIM:222448 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 IAGP HPO ORPHA:2512 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940 		JBrowse link
G MCPH1 microcephalin 1 IAGP HPO ORPHA:2512 NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Corpus callosum agenesis HPO
ClinVar		 PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... MIM:309520 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED12L mediator complex subunit 12L IAGP HPO MIM:618872 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO MIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G METTL5 methyltransferase 5, N6-adenosine IAGP HPO ORPHA:2512 NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid IAGP HPO ORPHA:2512 NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968 		JBrowse link
G MID1 midline 1 IAGP HPO MIM:300000 ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 ORPHA:220493 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:276300 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP HPO MIM:615219 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692 		JBrowse link
G MRPS16 mitochondrial ribosomal protein S16 IAGP HPO MIM:610498 NCBI chr10:73,248,849...73,252,644
Ensembl chr10:73,248,843...73,252,693 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:563612 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616239 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 IAGP HPO ORPHA:2512 NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO MIM:605013 MIM:614019 ORPHA:89844 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO MIM:618238 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO MIM:300952 MIM:309801 ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NFIA nuclear factor I A IAGP HPO MIM:613735 NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788 		JBrowse link
G NFIB nuclear factor I B IAGP HPO MIM:618286 NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:220497 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NTN1 netrin 1 IAGP HPO MIM:157600 ORPHA:238722 NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000 		JBrowse link
G NUP37 nucleoporin 37 IAGP HPO ORPHA:2512 NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:311200 ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO ORPHA:85179 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:3157 ORPHA:95494 ORPHA:990 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO MIM:312170 ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta IAGP HPO MIM:614111 ORPHA:255138 NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PDYN prodynorphin IAGP HPO MIM:610245 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO MIM:615802 ORPHA:401820 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G PHC1 polyhomeotic homolog 1 IAGP HPO ORPHA:2512 NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:248700 ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLXNA1 plexin A1 IAGP HPO MIM:619955 NCBI chr 3:126,983,115...127,037,389
Ensembl chr 3:126,982,693...127,037,389 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO MIM:619101 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO MIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO MIM:615249 ORPHA:370959 ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:236670 ORPHA:370959 ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO MIM:236670 MIM:613150 ORPHA:370959 ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP HPO MIM:618820 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO MIM:616362 ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO MIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:3157 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO MIM:202650 ORPHA:990 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		JBrowse link
G PTCH1 patched 1 IAGP HPO MIM:610828 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO MIM:612940 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:2512 ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO MIM:600118 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:401830 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO MIM:618577 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO MIM:157600 ORPHA:238722 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RELN reelin IAGP HPO ORPHA:89844 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:220497 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RTTN rotatin IAGP HPO MIM:614833 ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP HPO ORPHA:2512 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182 		JBrowse link
G SASS6 SAS-6 centriolar assembly protein IAGP HPO ORPHA:2512 NCBI chr 1:100,083,570...100,132,930
Ensembl chr 1:100,083,563...100,132,955 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO MIM:618766 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO MIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO MIM:157170 MIM:269160 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO MIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP HPO MIM:619083 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:218000 ORPHA:1496 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO MIM:618197 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP HPO MIM:617595 NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO MIM:614609 ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCC2 SWI/SNF related BAF chromatin remodeling complex subunit C2 IAGP HPO ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SMARCD1 SWI/SNF related BAF chromatin remodeling complex subunit D1 IAGP HPO MIM:618779 ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:601707 ORPHA:1553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SNF8 SNF8 subunit of ESCRT-II IAGP HPO MIM:620783 MIM:620784 NCBI chr17:48,929,316...48,944,842
Ensembl chr17:48,929,316...48,944,842 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO MIM:206900 ORPHA:3157 ORPHA:77298 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:3157 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO MIM:619312 ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP HPO MIM:301134 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO MIM:301043 ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:2512 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:280200 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO MIM:618786 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 IAGP HPO ORPHA:2512 NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		JBrowse link
G TBC1D23 TBC1 domain family member 23 IAGP HPO MIM:617695 NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:3301 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO MIM:614815 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G THUMPD1 THUMP domain containing 1 IAGP HPO MIM:619989 NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:220497 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098 		JBrowse link
G TP73 tumor protein p73 IAGP HPO MIM:619466 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP HPO ORPHA:2512 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO MIM:617669 ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP HPO ORPHA:2512 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
G TTC5 tetratricopeptide repeat domain 5 IAGP HPO MIM:619244 NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP associated with Lissencephaly;DNA:missense mutations:cds:
ClinVar Annotator: match by term: Corpus callosum, agenesis of		 HPO
ClinVar
RGD		 PMID:18954413 PMID:20466733 PMID:24860126 PMID:25741868 PMID:28492532 More... MIM:611603 ORPHA:171680, RGD:11067701 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBA8 tubulin alpha 8 IAGP HPO ORPHA:250972 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO MIM:610031 ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:600638 MIM:614039 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO ORPHA:563612 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
G VAX1 ventral anterior homeobox 1 IAGP HPO MIM:614402 NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO ORPHA:2512 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
G WBP4 WW domain binding protein 4 IAGP HPO MIM:620852 NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO ORPHA:2512 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar
HPO		 PMID:29232904 MIM:619418 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP HPO MIM:612337 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC1 Zic family member 1 IAGP HPO MIM:616602 MIM:618736 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO MIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP HPO MIM:615095 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP HPO MIM:618619 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO MIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Agenesis of the anterior commissure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Aplasia/Hypoplasia of the cerebral white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM:235730 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Aplasia/Hypoplasia of the corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACY1 aminoacylase 1 IAGP HPO ORPHA:137754 NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:475 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARL13B ARF like GTPase 13B IAGP HPO ORPHA:475 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARL3 ARF like GTPase 3 IAGP HPO ORPHA:475 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO ORPHA:475 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP HPO MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO MIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:115150 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP HPO ORPHA:475 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 ORPHA:2318 ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CD96 CD96 molecule IAGP HPO ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
G CEP104 centrosomal protein 104 IAGP HPO ORPHA:475 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:475 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:2318 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:475 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO ORPHA:2754 ORPHA:475 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Aplasia/Hypoplasia of the corpus callosum ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO MIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2117 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:272 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Aplasia/Hypoplasia of the corpus callosum ClinVar PMID:25741868 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO MIM:616819 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:36 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP HPO ORPHA:88639 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:475 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:475 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:1454 ORPHA:475 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple RGD PMID:22265017 RGD:9588485 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO ORPHA:475 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 IAGP HPO ORPHA:263516 NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:475 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:2754 ORPHA:475 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:200990 ORPHA:2754 ORPHA:36 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:2378 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO MIM:222448 ORPHA:2143 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:776 ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NFIA nuclear factor I A IAGP HPO ORPHA:401986 NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2754 ORPHA:475 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 ORPHA:475 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO ORPHA:475 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:140944 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:253280 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:1454 ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO ORPHA:85278 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:475 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2754 ORPHA:475 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO ORPHA:2318 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2318 ORPHA:2754 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO ORPHA:475 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2318 ORPHA:2754 ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:2318 ORPHA:475 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:1454 ORPHA:475 ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO ORPHA:1194 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO ORPHA:475 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP HPO ORPHA:36367 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909 		JBrowse link
G ZNF423 zinc finger protein 423 IAGP HPO ORPHA:2318 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
Atrophy/Degeneration involving the caudate nucleus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
Basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP HPO MIM:135100 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO MIM:259730 ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CASR calcium sensing receptor IAGP HPO MIM:601198 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO MIM:615030 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461 		JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO MIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO MIM:610651 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 MIM:214150 MIM:278800 ORPHA:90321 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 ORPHA:90321 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO MIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:127000 ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO MIM:146255 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO MIM:615361 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:103580 MIM:612462 ORPHA:79443 ORPHA:79444 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP HPO MIM:616126 NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO MIM:618824 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G LOC126863256 BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 IAGP ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:32581362 NCBI chr  X:49,077,189...49,078,388 JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO MIM:619486 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO MIM:618317 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:213600 MIM:615483 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:213600 MIM:615007 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO MIM:620796 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO MIM:619183 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO MIM:610181 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO MIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO MIM:612952 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO MIM:213600 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO MIM:616505 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO MIM:229050 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO ORPHA:542310 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO MIM:618193 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:32581362 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP HPO MIM:616413 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		JBrowse link
Basal ganglia cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G GFM1 G elongation factor mitochondrial 1 IAGP HPO MIM:609060 NCBI chr 3:158,644,527...158,695,581
Ensembl chr 3:158,644,527...158,695,581 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO MIM:312170 ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
Basal ganglia gliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO MIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614946 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:603218 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO MIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
Basal ganglia necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO MIM:618239 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
Bilateral basal ganglia lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Bilateral basal ganglia lesions ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP HPO MIM:615119 NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G RFT1 RFT1 homolog IAGP HPO ORPHA:244310 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453 		JBrowse link
Caudate atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:363400 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:209908 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G HTT huntingtin IAGP HPO MIM:617435 ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G JPH3 junctophilin 3 IAGP HPO ORPHA:98934 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO MIM:618238 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:617892 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO ORPHA:137831 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO MIM:618193 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO MIM:200150 ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Cavitation of the basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP HPO MIM:606159 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
Cerebral dysmyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO MIM:606854 ORPHA:101070 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Cerebral dysmyelination ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9360639 PMID:17003839 More... NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO MIM:252650 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:601815 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312080 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:611722 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:101070 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
Cerebral subcortical cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 IAGP HPO MIM:620448 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G GPRC5B G protein-coupled receptor class C group 5 member B IAGP HPO MIM:620447 NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167 		JBrowse link
Cerebral white matter atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:280071 NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO ORPHA:98756 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO ORPHA:369939 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Cerebral white matter atrophy ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392 ORPHA:592574 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DCX doublecortin IAGP HPO ORPHA:2148 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO MIM:615042 ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP HPO MIM:610532 NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO ORPHA:468661 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IREB2 iron responsive element binding protein 2 IAGP HPO MIM:618451 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453 		JBrowse link
G MYL9 myosin light chain 9 IAGP HPO MIM:619365 NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447 		JBrowse link
G NAXE NAD(P)HX epimerase IAGP HPO MIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507 		JBrowse link
G NSUN3 NOP2/Sun RNA methyltransferase 3 IAGP HPO MIM:619012 NCBI chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:599373 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:369840 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
Cerebral white matter hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO MIM:616728 ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP HPO ORPHA:500545 NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP HPO MIM:619091 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:168577 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G STRADA STE20 related adaptor alpha IAGP HPO ORPHA:500533 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986 		JBrowse link
G TMX2 thioredoxin related transmembrane protein 2 IAGP HPO MIM:618730 NCBI chr11:57,712,593...57,740,973
Ensembl chr11:57,712,580...57,742,987 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Confluent hyperintensity of cerebral white matter on MRI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280210 ORPHA:280219 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
Corpus callosum atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 IAGP HPO MIM:260600 NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO MIM:601162 MIM:616586 ORPHA:447753 ORPHA:447760 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ATP8A2 ATPase phospholipid transporting 8A2 IAGP HPO MIM:615268 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO ORPHA:369939 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP HPO MIM:618285 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 IAGP HPO MIM:619876 NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:221820 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP HPO MIM:620314 NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 ORPHA:480898 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G IRF2BPL interferon regulatory factor 2 binding protein like IAGP HPO MIM:618088 NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:236792 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:169500 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G MAG myelin associated glycoprotein IAGP HPO MIM:616680 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO MIM:617339 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 IAGP HPO MIM:619272 NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO MIM:620938 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614877 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G POLR3K RNA polymerase III subunit K IAGP HPO MIM:619310 NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608 		JBrowse link
G SLITRK2 SLIT and NTRK like family member 2 IAGP HPO MIM:301107 NCBI chr  X:145,817,829...145,829,856
Ensembl chr  X:145,817,829...145,829,856 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G TTC5 tetratricopeptide repeat domain 5 IAGP HPO MIM:619244 NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO MIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
Deep cerebral white matter hyperintensities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 IAGP HPO ORPHA:199354 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
Deep white matter hypodensities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO MIM:612952 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
Degeneration of the striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G HTT huntingtin IAGP HPO ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G PDE8B phosphodiesterase 8B IAGP HPO MIM:609161 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
Diffuse swelling of cerebral white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO MIM:604004 MIM:613925 MIM:613926 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G MLC1 modulator of VRAC current 1 IAGP HPO MIM:604004 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		JBrowse link
Diffuse white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox IAGP HPO ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:1934 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:1934 ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO MIM:613925 MIM:613926 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Diffuse white matter abnormalities ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G MTM1 myotubularin 1 IAGP ClinVar Annotator: match by term: Diffuse white matter abnormalities ClinVar PMID:25741868 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP HPO MIM:616763 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO ORPHA:1934 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370959 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Diffuse white matter abnormalities ClinVar PMID:34715011 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRORP-PSMA6 PRORP-PSMA6 readthrough IAGP ClinVar Annotator: match by term: Diffuse white matter abnormalities ClinVar PMID:34715011 NCBI chr14:35,121,839...35,317,471 JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP HPO MIM:613075 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:1934 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO ORPHA:505216 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
Dysgenesis of the basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP HPO MIM:620316 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB tubulin beta class I IAGP HPO MIM:615771 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Dysplastic corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO MIM:618276 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO MIM:618810 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO MIM:604273 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP HPO MIM:619423 NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP ClinVar Annotator: match by term: Dysplasia of corpus callosum ClinVar PMID:25741868 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDB1 damage specific DNA binding protein 1 IAGP HPO MIM:619426 NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596 		JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO MIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP HPO MIM:604213 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO MIM:616854 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP ClinVar Annotator: match by term: Dysplastic corpus callosum ClinVar PMID:25741868 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO MIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO MIM:616490 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO MIM:252650 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 IAGP HPO MIM:620135 NCBI chr19:14,566,078...14,572,066
Ensembl chr19:14,566,078...14,572,066 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 IAGP HPO MIM:620001 NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO MIM:613162 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G PIGH phosphatidylinositol glycan anchor biosynthesis class H IAGP HPO MIM:618010 NCBI chr14:67,589,306...67,600,301
Ensembl chr14:67,581,955...67,600,286 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PLXNA1 plexin A1 IAGP HPO MIM:619955 NCBI chr 3:126,983,115...127,037,389
Ensembl chr 3:126,982,693...127,037,389 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP HPO MIM:618820 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP HPO MIM:619737 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G RTTN rotatin IAGP HPO MIM:614833 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 ORPHA:500166 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIN3B SIN3 transcription regulator family member B IAGP HPO ORPHA:500166 NCBI chr19:16,829,398...16,880,349
Ensembl chr19:16,829,398...16,880,353 		JBrowse link
G SNF8 SNF8 subunit of ESCRT-II IAGP HPO MIM:620783 MIM:620784 NCBI chr17:48,929,316...48,944,842
Ensembl chr17:48,929,316...48,944,842 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:599373 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SVBP small vasohibin binding protein IAGP HPO MIM:618569 NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBA8 tubulin alpha 8 IAGP HPO ORPHA:250972 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO MIM:620317 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP HPO ORPHA:502430 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634 		JBrowse link
Eye of the tiger anomaly of globus pallidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO ORPHA:79244 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G NUDT2 nudix hydrolase 2 IAGP HPO MIM:619844 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,713 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO MIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO MIM:300894 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
Focal hyperintensity of cerebral white matter on MRI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRG1 neuregulin 1 IAGP DNA:SNP:enhancer: (rs35753505) RGD PMID:18585932 RGD:39131291 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 IAGP HPO ORPHA:79246 NCBI chr 8:93,916,923...93,926,068
Ensembl chr 8:93,857,807...93,926,068 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
Focal hypointensity of cerebral white matter on MRI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Focal T2 hyperintense basal ganglia lesion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO MIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO ORPHA:23 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP HPO MIM:602473 NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363717 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO ORPHA:70472 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:255210 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:255210 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO MIM:618226 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO MIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Focal T2 hyperintense basal ganglia lesion ClinVar PMID:10712197 PMID:10726756 PMID:10862084 PMID:15146469 PMID:15846561 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP HPO MIM:614652 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO ORPHA:282166 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO MIM:245400 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G TACO1 translational activator of cytochrome c oxidase I IAGP HPO MIM:619052 NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365 		JBrowse link
Focal T2 hypointense basal ganglia lesion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ8A coenzyme Q8A IAGP HPO ORPHA:139485 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO MIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
Focal white matter lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Focal white matter lesions ClinVar NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:607341 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G RNASET2 ribonuclease T2 IAGP HPO MIM:612951 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ClinVar Annotator: match by term: Focal white matter lesions ClinVar PMID:25741868 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:607341 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:607341 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
Fusion of the caudate and putamen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:614039 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Globus pallidus calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGO1 argonaute RISC component 1 IAGP HPO MIM:620292 NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 IAGP HPO MIM:621018 NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953 		JBrowse link
Globus pallidus hypointensity on susceptibility-weighted imaging term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTPBP2 GTP binding protein 2 IAGP HPO MIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO MIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
Hyperintensity of cerebral white matter on MRI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP HPO ORPHA:99802 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:79326 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP HPO MIM:613647 ORPHA:306511 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G ATN1 atrophin 1 IAGP HPO ORPHA:101 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO ORPHA:101006 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO MIM:617333 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO ORPHA:458803 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP HPO MIM:617798 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093 		JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP HPO ORPHA:1947 NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:618564 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:270800 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:1675 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP ClinVar Annotator: match by term: White matter hyperintensity
ClinVar Annotator: match by term: Hyperintensity of cerebral white matter on MRI		 ClinVar PMID:25741868 PMID:34375587 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 IAGP HPO MIM:620537 NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP HPO MIM:619322 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130 		JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO ORPHA:99802 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NEUROG1 neurogenin 1 IAGP HPO MIM:620469 NCBI chr 5:135,534,282...135,535,964
Ensembl chr 5:135,534,282...135,535,964 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO ORPHA:527497 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G NSUN3 NOP2/Sun RNA methyltransferase 3 IAGP HPO MIM:619012 NCBI chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:99802 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280229 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:611722 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP HPO ORPHA:438114 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301 		JBrowse link
G RFT1 RFT1 homolog IAGP HPO ORPHA:244310 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:619224 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO MIM:617239 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 ORPHA:521406 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SUOX sulfite oxidase IAGP HPO MIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TM4SF20 transmembrane 4 L six family member 20 IAGP HPO MIM:615432 NCBI chr 2:227,362,038...227,381,647
Ensembl chr 2:227,362,038...227,381,995 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G UBTF upstream binding transcription factor IAGP HPO MIM:617672 ORPHA:500180 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO MIM:620317 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
Hypodysplasia of the corpus callosum 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 IAGP HPO MIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
Hypointensity of cerebral white matter on MRI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADORA2A adenosine A2a receptor IAGP HPO ORPHA:363549 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357 		JBrowse link
G ADSL adenylosuccinate lyase IAGP HPO ORPHA:46 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Hypointensity of cerebral white matter on MRI ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206436 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO MIM:619196 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO MIM:607855 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP DNA:deletion:cds:p.V691del RGD PMID:17033970 RGD:6482740 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:603041 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:206436 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO MIM:603041 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO MIM:300860 ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
Hypoplasia of the corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G ACER3 alkaline ceramidase 3 IAGP HPO MIM:617762 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
G ACO2 aconitase 2 IAGP HPO MIM:614559 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273 		JBrowse link
G ACTL6B actin like 6B IAGP HPO MIM:618468 MIM:618470 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IAGP HPO MIM:618862 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO MIM:616577 ORPHA:457351 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B IAGP HPO MIM:619616 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO MIM:615829 ORPHA:412069 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300232 ORPHA:83629 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 IAGP HPO MIM:618006 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP HPO MIM:615937 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO MIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP HPO ORPHA:3006 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:79326 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO MIM:613451 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO MIM:615686 MIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:261250 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO MIM:617276 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO MIM:614066 ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO ORPHA:280763 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Corpus callosum hypoplasia HPO
ClinVar		 PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 MIM:612936 ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP HPO MIM:613647 ORPHA:306511 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO MIM:618677 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARFGEF2 ARF guanine nucleotide exchange factor 2 IAGP HPO MIM:608097 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO MIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ARSI arylsulfatase family member I IAGP HPO ORPHA:401815 NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307 		JBrowse link
G ARX aristaless related homeobox IAGP HPO ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP HPO MIM:608716 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP HPO MIM:182600 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATN1 atrophin 1 IAGP HPO MIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:513436 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300423 ORPHA:93952 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:618012 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP9A ATPase phospholipid transporting 9A (putative) IAGP HPO MIM:620242 NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390 		JBrowse link
G AXIN1 axin 1 IAGP HPO MIM:620558 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO MIM:618056 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO MIM:620568 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP HPO MIM:620114 NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO MIM:620149 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO MIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616672 ORPHA:477774 NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CCDC174 coiled-coil domain containing 174 IAGP HPO MIM:616816 NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659 		JBrowse link
G CCDC88A coiled-coil domain containing 88A IAGP HPO MIM:617507 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO MIM:617694 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP HPO MIM:617360 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO MIM:617761 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:611134 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO MIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP HPO MIM:617090 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP HPO MIM:300114 ORPHA:485350 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO MIM:615803 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO MIM:618500 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO MIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP HPO MIM:619071 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:616286 MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO MIM:615643 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G COG2 component of oligomeric golgi complex 2 IAGP HPO MIM:617395 ORPHA:435934 NCBI chr 1:230,642,481...230,693,982
Ensembl chr 1:230,642,481...230,693,982 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO MIM:613489 ORPHA:263501 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO MIM:608779 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO MIM:617800 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:300887 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP HPO MIM:615789 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,685,037 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO MIM:614643 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO MIM:615636 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTNNA2 catenin alpha 2 IAGP HPO MIM:618174 NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO MIM:615075 ORPHA:404473 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO MIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G CUL4B cullin 4B IAGP HPO MIM:300354 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO MIM:615030 ORPHA:320411 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO MIM:616538 ORPHA:370997 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 IAGP HPO MIM:615281 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:137898 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Corpus callosum hypoplasia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:30755392 MIM:601390 ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DCX doublecortin IAGP HPO ORPHA:2148 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO MIM:615033 ORPHA:320380 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO MIM:300958 ORPHA:3338 ORPHA:457260 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP HPO MIM:618653 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP ClinVar Annotator: match by term: Thinning of the corpus callosum
ClinVar Annotator: match by term: Corpus callosum hypoplasia		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO MIM:616632 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:1934 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO MIM:620819 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP HPO MIM:615859 ORPHA:411986 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP HPO MIM:614563 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 IAGP HPO MIM:618492 NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:618877 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO MIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP HPO MIM:617951 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO MIM:611225 ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:75857 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G EXOC2 exocyst complex component 2 IAGP HPO MIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
G EXOC7 exocyst complex component 7 IAGP HPO MIM:619072 NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576 		JBrowse link
G EXOC8 exocyst complex component 8 IAGP HPO MIM:619076 NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852 		JBrowse link
G EXOSC1 exosome component 1 IAGP HPO MIM:619304 NCBI chr10:97,435,909...97,446,006
Ensembl chr10:97,435,909...97,446,017 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO MIM:616081 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO MIM:612319 ORPHA:171629 ORPHA:329308 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FANCB FA complementation group B IAGP HPO MIM:300514 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:615546 ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO MIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO MIM:618156 NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:616482 ORPHA:85165 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:236670 ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:236670 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLCN folliculin IAGP HPO MIM:610883 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300049 ORPHA:555877 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO MIM:613454 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP HPO MIM:300983 NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP HPO MIM:618559 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
G GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 IAGP HPO MIM:617153 NCBI chr 4:46,993,647...47,426,447
Ensembl chr 4:46,993,723...47,426,447 		JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP HPO MIM:619124 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO MIM:614409 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GCSH glycine cleavage system protein H IAGP HPO MIM:620423 NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395 		JBrowse link
G GFER growth factor, augmenter of liver regeneration IAGP HPO ORPHA:330054 NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749 		JBrowse link
G GFM1 G elongation factor mitochondrial 1 IAGP HPO MIM:609060 NCBI chr 3:158,644,527...158,695,581
Ensembl chr 3:158,644,527...158,695,581 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP HPO MIM:613206 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:175700 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GLRX5 glutaredoxin 5 IAGP HPO MIM:616859 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO MIM:610015 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G GLYCTK glycerate kinase IAGP HPO ORPHA:941 NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO MIM:615473 MIM:617493 ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP HPO MIM:618721 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP HPO MIM:604213 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 IAGP HPO MIM:616281 ORPHA:477673 NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO ORPHA:364028 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 IAGP HPO MIM:617864 NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO MIM:614254 MIM:617820 ORPHA:1934 ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:163721 ORPHA:289266 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP ClinVar Annotator: match by term: Corpus callosum hypoplasia HPO
ClinVar		 PMID:25741868 MIM:618922 ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G GTPBP2 GTP binding protein 2 IAGP HPO MIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:616756 ORPHA:464282 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 IAGP HPO ORPHA:531 NCBI chr17:2,055,103...2,063,241
Ensembl chr17:2,054,154...2,063,241 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 IAGP HPO MIM:616977 NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP HPO MIM:619026 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO MIM:617248 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO MIM:615330 ORPHA:468661 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO MIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO MIM:615996 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO MIM:617102 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO MIM:610443 ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT8 lysine acetyltransferase 8 IAGP HPO MIM:618974 NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO MIM:616212 ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP HPO MIM:618381 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO MIM:613720 ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO MIM:614959 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KCNT2 potassium sodium-activated channel subfamily T member 2 IAGP HPO MIM:617771 NCBI chr 1:196,225,779...196,608,440
Ensembl chr 1:196,225,779...196,609,225 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 IAGP HPO MIM:611726 NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO MIM:616728 ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KDM5A lysine demethylase 5A IAGP HPO MIM:620820 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G KDM5B lysine demethylase 5B IAGP HPO MIM:618109 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO MIM:616546 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:619479 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO ORPHA:521390 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO MIM:617914 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G KIF2A kinesin family member 2A IAGP HPO MIM:615411 NCBI chr 5:62,306,206...62,391,025
Ensembl chr 5:62,306,162...62,391,025 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO MIM:617235 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KIF5C kinesin family member 5C IAGP HPO MIM:615282 NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO MIM:607131 ORPHA:166024 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO MIM:609460 ORPHA:66629 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO MIM:304100 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LAMB1 laminin subunit beta 1 IAGP HPO MIM:615191 NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LNPK lunapark, ER junction formation factor IAGP HPO MIM:618090 NCBI chr 2:175,923,882...176,002,820
Ensembl chr 2:175,923,882...176,002,839 		JBrowse link
G LOC129934096 ATAC-STARR-seq lymphoblastoid active region 16036 IAGP ClinVar Annotator: match by term: Corpus callosum hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:73,926,912...73,927,181 JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G LSS lanosterol synthase IAGP HPO MIM:618840 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO MIM:618325 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAGED2 MAGE family member D2 IAGP ClinVar Annotator: match by term: Hypoplasia of the corpus callosum ClinVar NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Thinning of the corpus callosum ClinVar
HPO		 PMID:25741868 PMID:30150678 MIM:618918 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO MIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO MIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO MIM:616734 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:308205 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MED12L mediator complex subunit 12L IAGP HPO MIM:618872 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO MIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO ORPHA:228384 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid IAGP HPO MIM:616486 NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO MIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO MIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO MIM:606056 ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO MIM:611719 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase IAGP HPO MIM:618367 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:616638 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO MIM:615035 ORPHA:254930 ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO MIM:620748 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO MIM:616034 ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO MIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO MIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP HPO MIM:619091 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616239 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:89844 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP HPO MIM:618235 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO MIM:618374 ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO ORPHA:85277 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFIA nuclear factor I A IAGP HPO MIM:613735 NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788 		JBrowse link
G NFIX nuclear factor I X IAGP ClinVar Annotator: match by term: Hypoplasia of the corpus callosum ClinVar
HPO		 PMID:25741868 MIM:602535 MIM:614753 ORPHA:420179 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO MIM:620938 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO MIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO ORPHA:527497 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO MIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NOVA2 NOVA alternative splicing regulator 2 IAGP HPO MIM:618859 NCBI chr19:45,933,734...45,973,865
Ensembl chr19:45,933,734...45,974,044 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO ORPHA:401777 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NRROS negative regulator of reactive oxygen species IAGP HPO MIM:618875 NCBI chr 3:196,639,694...196,662,004
Ensembl chr 3:196,639,694...196,662,004 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Corpus callosum hypoplasia ClinVar PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 More... NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO MIM:613162 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G NUP188 nucleoporin 188 IAGP HPO MIM:618804 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OGDHL oxoglutarate dehydrogenase L IAGP HPO MIM:619701 NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO MIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO MIM:617452 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO ORPHA:217385 ORPHA:531 ORPHA:95232 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
G PAH phenylalanine hydroxylase IAGP HPO ORPHA:2209 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:618437 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PAX6 paired box 6 IAGP HPO MIM:106210 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO MIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO MIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO MIM:615665 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta IAGP HPO ORPHA:255138 NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO MIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ClinVar Annotator: match by term: Hypoplasia of the corpus callosum ClinVar
HPO		 PMID:25741868 MIM:614207 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO MIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO MIM:616917 ORPHA:488635 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO MIM:617599 ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO MIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO MIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO MIM:119800 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO MIM:620458 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PLPBP pyridoxal phosphate binding protein IAGP HPO ORPHA:3006 NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO MIM:613402 ORPHA:1934 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO MIM:618528 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:616494 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO MIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:607694 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:607694 MIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP HPO MIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:236670 MIM:613155 ORPHA:370968 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO MIM:236670 MIM:613156 ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POU3F3 POU class 3 homeobox 3 IAGP HPO MIM:618604 NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574 		JBrowse link
G PPFIBP1 PPFIA binding protein 1 IAGP HPO MIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO MIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PPP2CA protein phosphatase 2 catalytic subunit alpha IAGP HPO MIM:618354 NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,193,978...134,226,073 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO MIM:616362 ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO MIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:423479 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO MIM:617481 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:611721 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP HPO MIM:618890 NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO MIM:616420 ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Corpus callosum hypoplasia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 MIM:615760 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO MIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO MIM:600118 MIM:619420 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:614225 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO MIM:617751 ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO MIM:618577 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:1713 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP HPO MIM:618797 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP HPO MIM:616140 ORPHA:438114 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO ORPHA:1587 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RELN reelin IAGP HPO ORPHA:89844 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP HPO MIM:617916 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 ORPHA:494344 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP HPO MIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO MIM:610329 ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNF13 ring finger protein 13 IAGP HPO MIM:618379 ORPHA:544503 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RORA RAR related orphan receptor A IAGP HPO MIM:618060 NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP HPO MIM:617773 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SCAF4 SR-related CTD associated factor 4 IAGP HPO MIM:620511 NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:1934 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO MIM:617938 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO MIM:613811 ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO MIM:620155 MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO MIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP HPO MIM:619121 NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO MIM:607721 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO MIM:206900 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO MIM:617105 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO MIM:616657 ORPHA:447997 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC25A10 solute carrier family 25 member 10 IAGP HPO MIM:618972 NCBI chr17:81,712,284...81,721,012
Ensembl chr17:81,712,236...81,721,016 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO MIM:300896 ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO MIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP HPO MIM:618973 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO MIM:616938 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO MIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SNF8 SNF8 subunit of ESCRT-II IAGP HPO MIM:620783 MIM:620784 NCBI chr17:48,929,316...48,944,842
Ensembl chr17:48,929,316...48,944,842 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO MIM:206900 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:67045 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:604360 MIM:616668 ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP HPO ORPHA:101001 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:613477 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:163721 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP HPO MIM:300934 ORPHA:370927 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:521258 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STAMBP STAM binding protein IAGP HPO MIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO MIM:612164 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SVBP small vasohibin binding protein IAGP HPO MIM:618569 NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 ORPHA:480907 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 IAGP HPO MIM:615599 ORPHA:397951 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863 		JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615918 NCBI chr 1:150,487,419...150,507,602
Ensembl chr 1:150,487,414...150,507,602 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO MIM:615663 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBC1D23 TBC1 domain family member 23 IAGP HPO MIM:617695 NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO MIM:617193 ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:241410 MIM:617207 ORPHA:496756 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO MIM:610954 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP HPO MIM:615031 ORPHA:320385 NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:618213 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 ORPHA:1394 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO MIM:617964 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO MIM:614424 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM47 transmembrane protein 47 IAGP ClinVar Annotator: match by term: Hypoplasia of the corpus callosum ClinVar NCBI chr  X:34,627,075...34,657,285
Ensembl chr  X:34,627,075...34,657,285 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO MIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G TMX2 thioredoxin related transmembrane protein 2 IAGP HPO MIM:618730 NCBI chr11:57,712,593...57,740,973
Ensembl chr11:57,712,580...57,742,987 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO MIM:614969 ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO MIM:619185 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TP73 tumor protein p73 IAGP HPO MIM:619466 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP HPO MIM:618351 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP HPO MIM:617862 NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TRAPPC9 trafficking protein particle complex subunit 9 IAGP HPO MIM:613192 ORPHA:352530 NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO MIM:618193 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789 		JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO MIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO MIM:612389 ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TTI2 TELO2 interacting protein 2 IAGP HPO ORPHA:391307 NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO MIM:611603 ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB tubulin beta class I IAGP ClinVar Annotator: match by term: Hypoplasia of the corpus callosum ClinVar
HPO		 PMID:25741868 MIM:156610 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBB2A tubulin beta 2A class IIa IAGP HPO MIM:615763 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO MIM:610031 ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:600638 MIM:614039 ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP HPO MIM:618737 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G U2AF2 U2 small nuclear RNA auxiliary factor 2 IAGP HPO MIM:620535 NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO MIM:617132 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO ORPHA:98794 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO MIM:244450 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G UBTF upstream binding transcription factor IAGP HPO MIM:617672 ORPHA:500180 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 IAGP HPO MIM:618744 NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO MIM:616801 ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO MIM:300968 ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VAMP2 vesicle associated membrane protein 2 IAGP HPO MIM:618760 NCBI chr17:8,159,147...8,162,948
Ensembl chr17:8,159,149...8,163,546 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP HPO MIM:617802 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615917 NCBI chr 6:30,914,238...30,926,459
Ensembl chr 6:30,914,205...30,926,459 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:616683 ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS50 VPS50 subunit of EARP/GARPII complex IAGP HPO MIM:619685 NCBI chr 7:93,232,366...93,361,123
Ensembl chr 7:93,232,340...93,361,123 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP HPO MIM:618606 NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G VPS53 VPS53 subunit of GARP complex IAGP HPO MIM:615851 NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717 		JBrowse link
G VWA3B von Willebrand factor A domain containing 3B IAGP HPO MIM:616948 NCBI chr 2:98,087,167...98,330,616
Ensembl chr 2:98,087,116...98,313,299 		JBrowse link
G WAC WW domain containing adaptor with coiled-coil IAGP HPO MIM:616708 ORPHA:284169 NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
G WBP4 WW domain binding protein 4 IAGP HPO MIM:620852 NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO MIM:617616 ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Corpus callosum hypoplasia ClinVar PMID:23176820 PMID:23687123 PMID:24368176 PMID:24621584 PMID:25741868 More... NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G WDR45B WD repeat domain 45B IAGP HPO MIM:617977 NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO MIM:604317 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO MIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO MIM:610185 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
G WLS Wnt ligand secretion mediator IAGP HPO MIM:619648 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:106210 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO MIM:616211 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO MIM:619418 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G YIF1B Yip1 interacting factor homolog B, membrane trafficking protein IAGP HPO MIM:619125 NCBI chr19:38,303,558...38,321,887
Ensembl chr19:38,303,558...38,317,273 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon IAGP HPO ORPHA:217385 ORPHA:531 NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZFR zinc finger RNA binding protein IAGP HPO ORPHA:401840 NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO MIM:270700 ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP HPO MIM:618659 NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO MIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP HPO MIM:618619 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO MIM:260565 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO MIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Hypoplastic anterior commissure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO MIM:618325 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Hypoplastic anterior limbs of the internal capsule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MICU1 mitochondrial calcium uptake 1 IAGP HPO MIM:615673 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
Iron accumulation in substantia nigra term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:496756 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO MIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO ORPHA:329284 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
Large basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Multifocal cerebral white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G PROS1 protein S IAGP DNA:missense mutation:exon:p.R355C (1063C>T) (human) RGD PMID:21172841 RGD:11250416 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP HPO ORPHA:415 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460 		JBrowse link
G TRAPPC9 trafficking protein particle complex subunit 9 IAGP HPO ORPHA:352530 NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
Multifocal hyperintensity of cerebral white matter on MRI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAA alpha glucosidase IAGP HPO ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
Neuronal loss in basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTT huntingtin IAGP HPO ORPHA:248111 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO MIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
Pallidal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
Partial agenesis of the corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CDC40 cell division cycle 40 IAGP HPO MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 IAGP HPO MIM:604804 NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170 		JBrowse link
G CENPE centromere protein E IAGP HPO MIM:616051 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 MIM:619517 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO MIM:614643 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DCC DCC netrin 1 receptor IAGP ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar PMID:25741868 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Partial agenesis of corpus callosum ClinVar PMID:25741868 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO MIM:616819 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human); HPO
RGD		 PMID:22578326 MIM:604213, RGD:11062393 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO MIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO MIM:616212 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KDM5B lysine demethylase 5B IAGP HPO MIM:618109 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO MIM:617296 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO MIM:304100 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO MIM:222448 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO MIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G LRRC32 leucine rich repeat containing 32 IAGP HPO MIM:619074 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G MDH1 malate dehydrogenase 1 IAGP HPO MIM:618959 NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO MIM:234050 ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 IAGP HPO MIM:619025 NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO ORPHA:85179 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO MIM:245349 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO MIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO MIM:616171 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G PTCH1 patched 1 IAGP HPO MIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO MIM:607196 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP HPO MIM:301134 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP HPO MIM:619480 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G TAF8 TATA-box binding protein associated factor 8 IAGP ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 6:42,050,524...42,087,462
Ensembl chr 6:42,050,513...42,087,461 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TCF12 transcription factor 12 IAGP HPO MIM:615314 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281 		JBrowse link
G TMEM260 transmembrane protein 260 IAGP HPO MIM:617478 NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606 		JBrowse link
G TNR tenascin R IAGP HPO MIM:619653 NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB tubulin beta class I IAGP HPO MIM:615771 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO MIM:610031 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO MIM:618346 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
Pericallosal lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 IAGP ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr11:117,204,337...117,232,073
Ensembl chr11:117,204,337...117,232,525 		JBrowse link
Periventricular cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP HPO MIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Periventricular cysts ClinVar PMID:25741868 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO MIM:619013 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363722 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP HPO MIM:617668 NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Periventricular cysts ClinVar PMID:25741868 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO MIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO MIM:619075 ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta IAGP HPO ORPHA:255138 NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 IAGP HPO MIM:616111 NCBI chr11:62,671,673...62,673,686
Ensembl chr11:62,670,273...62,673,686 		JBrowse link
Periventricular leukomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615889 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B IAGP HPO MIM:619616 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO MIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO MIM:617808 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO ORPHA:23 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP HPO MIM:617360 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP HPO ORPHA:485350 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 ORPHA:163681 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO ORPHA:320380 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP HPO MIM:619493 NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G FCSK fucose kinase IAGP HPO MIM:618324 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G KDM5A lysine demethylase 5A IAGP HPO MIM:620820 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 IAGP HPO MIM:619170 NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NRROS negative regulator of reactive oxygen species IAGP HPO MIM:618875 NCBI chr 3:196,639,694...196,662,004
Ensembl chr 3:196,639,694...196,662,004 		JBrowse link
G OGDHL oxoglutarate dehydrogenase L IAGP HPO MIM:619701 NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO MIM:210000 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PC pyruvate carboxylase IAGP HPO MIM:266150 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta IAGP HPO ORPHA:255138 NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857 		JBrowse link
G PPFIBP1 PPFIA binding protein 1 IAGP HPO MIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		JBrowse link
G PRR12 proline rich 12 IAGP HPO MIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP HPO MIM:618798 NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Periventricular leukomalacia ClinVar PMID:25741868 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO MIM:617731 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP HPO MIM:618302 NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255 		JBrowse link
Periventricular white matter hyperintensities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO MIM:619719 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP HPO MIM:619735 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO MIM:613834 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTL6B actin like 6B IAGP HPO MIM:618468 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP HPO MIM:613647 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G CLDN1 claudin 1 susceptibility IAGP DNA:SNPs,haplotype: :rs17501010, rs893051,rs9290927(human) RGD PMID:25956626 RGD:11344876 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO MIM:602668 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP HPO MIM:301008 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO MIM:615033 ORPHA:320380 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO MIM:618374 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 IAGP HPO MIM:618158 NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP HPO MIM:619737 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G SELENOI selenoprotein I IAGP HPO MIM:618768 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP HPO MIM:248900 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G STRADA STE20 related adaptor alpha IAGP HPO ORPHA:500533 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986 		JBrowse link
G TMEM222 transmembrane protein 222 IAGP HPO MIM:619470 NCBI chr 1:27,322,163...27,336,400
Ensembl chr 1:27,322,145...27,336,400 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO MIM:620224 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
Periventricular white matter hypodensities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
Posterior atrophy of corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG7 autophagy related 7 IAGP HPO MIM:619422 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665 		JBrowse link
Probst bundles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFIB nuclear factor I B IAGP HPO MIM:618286 NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983 		JBrowse link
Punctate periventricular T2 hyperintense foci term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A IAGP HPO ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP HPO MIM:619071 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G GM2A ganglioside GM2 activator IAGP HPO ORPHA:309246 NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
Recurrent subcortical infarcts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX59 DEAD-box helicase 59 IAGP HPO MIM:174300 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Recurrent subcortical infarcts HPO
ClinVar		 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10854111 PMID:10969905 More... MIM:125310 ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
Reduced cerebral white matter volume term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARF1 ARF GTPase 1 IAGP HPO MIM:618185 NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO MIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO MIM:617333 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO MIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO MIM:615803 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G CRLS1 cardiolipin synthase 1 IAGP HPO MIM:620167 NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053 		JBrowse link
G CTNNA2 catenin alpha 2 IAGP HPO MIM:618174 NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHX9 DExH-box helicase 9 IAGP HPO MIM:620988 NCBI chr 1:182,839,347...182,887,982
Ensembl chr 1:182,839,347...182,887,982 		JBrowse link
G DNM1 dynamin 1 IAGP HPO MIM:620352 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO MIM:618396 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G IREB2 iron responsive element binding protein 2 IAGP HPO MIM:618451 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453 		JBrowse link
G KCNT2 potassium sodium-activated channel subfamily T member 2 IAGP HPO MIM:617771 NCBI chr 1:196,225,779...196,608,440
Ensembl chr 1:196,225,779...196,609,225 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:616638 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP HPO MIM:620830 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO MIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP HPO MIM:618235 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO MIM:618253 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP HPO MIM:618247 NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO MIM:620938 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO MIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO MIM:617711 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO MIM:616420 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAB11B RAB11B, member RAS oncogene family IAGP HPO MIM:617807 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G SLITRK2 SLIT and NTRK like family member 2 IAGP HPO MIM:301107 NCBI chr  X:145,817,829...145,829,856
Ensembl chr  X:145,817,829...145,829,856 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:613477 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP HPO MIM:301134 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP HPO MIM:620075 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TUBB2A tubulin beta 2A class IIa IAGP HPO MIM:615763 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO MIM:620317 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
G WDR45B WD repeat domain 45B IAGP HPO MIM:617977 NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP HPO MIM:615095 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203 		JBrowse link
Short corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHSG alpha 2-HS glycoprotein IAGP HPO ORPHA:2850 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO MIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit IAGP HPO MIM:620789 NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317 		JBrowse link
G ITGB6 integrin subunit beta 6 IAGP HPO ORPHA:2850 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:2850 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta IAGP HPO ORPHA:255138 NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
G SNUPN snurportin 1 IAGP HPO MIM:620793 NCBI chr15:75,598,086...75,626,461
Ensembl chr15:75,598,083...75,626,469 		JBrowse link
G TAF8 TATA-box binding protein associated factor 8 IAGP HPO MIM:619972 NCBI chr 6:42,050,524...42,087,462
Ensembl chr 6:42,050,513...42,087,461 		JBrowse link
Small basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:616286 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:621 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYB5R3 cytochrome b5 reductase 3 IAGP HPO ORPHA:621 NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870 		JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP HPO ORPHA:88639 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO MIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP HPO ORPHA:263410 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
Status cribrosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
Striatal T2 hyperintensity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G PDE10A phosphodiesterase 10A IAGP HPO ORPHA:494541 NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117 		JBrowse link
Subcortical white matter calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 ORPHA:90322 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90322 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO ORPHA:3240 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO ORPHA:542310 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
Substantia nigra gliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO MIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:168600 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:168600 ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:168600 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G BDNF brain derived neurotrophic factor no_association IAGP DNA:polymorphisms: :196G>A (p.V66M), 270C>T RGD PMID:16565926 RGD:10059346 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G FBXO7 F-box protein 7 IAGP HPO ORPHA:171695 NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:168600 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO MIM:607060 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:168600 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO MIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:168600 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:171695 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO MIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:168600 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
Substantia nigra hypointensity on susceptibility-weighted imaging term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTPBP2 GTP binding protein 2 IAGP HPO MIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO MIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171 		JBrowse link
Symmetric lesions of the basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE8B phosphodiesterase 8B IAGP HPO MIM:609161 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
T2 hypointense basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619637 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
Thick corpus callosum 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 IAGP HPO MIM:619605 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:619606 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP HPO MIM:218340 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP HPO MIM:617798 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093 		JBrowse link
G CCND2 cyclin D2 IAGP HPO MIM:615938 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO MIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO MIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G KDM3B lysine demethylase 3B IAGP HPO MIM:618846 NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP HPO MIM:618273 NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO MIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP HPO MIM:615476 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO MIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
G TUBG1 tubulin gamma 1 IAGP HPO MIM:615412 NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO MIM:216550 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
Thin corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP HPO MIM:619735 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356 		JBrowse link
G ADCY5 adenylate cyclase 5 IAGP HPO MIM:619651 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO MIM:616577 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO ORPHA:2254 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO MIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO MIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO MIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G AMFR autocrine motility factor receptor IAGP HPO MIM:620379 NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP HPO MIM:613647 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO MIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:619605 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:619606 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300423 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP HPO MIM:619641 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO MIM:614498 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO MIM:616202 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO MIM:617333 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CAMLG calcium modulating ligand IAGP HPO MIM:620201 NCBI chr 5:134,738,548...134,752,157
Ensembl chr 5:134,738,495...134,752,157 		JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616672 NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO MIM:617694 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CEP85L centrosomal protein 85 like IAGP HPO ORPHA:572013 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP HPO MIM:618205 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CHKA choline kinase alpha IAGP HPO MIM:620023 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 MIM:619517 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO MIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G COG3 component of oligomeric golgi complex 3 IAGP HPO MIM:620546 NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO MIM:619884 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO MIM:616276 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP HPO MIM:620504 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO ORPHA:477814 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 IAGP HPO MIM:620326 NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964 		JBrowse link
G DNM1 dynamin 1 IAGP HPO MIM:620352 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DOHH deoxyhypusine hydroxylase IAGP HPO MIM:620066 NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO MIM:614104 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 IAGP HPO MIM:616277 NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354 		JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO MIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G EXOSC3 exosome component 3 IAGP HPO ORPHA:2254 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO ORPHA:2254 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO ORPHA:2254 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO MIM:612319 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300049 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G GCSH glycine cleavage system protein H IAGP HPO MIM:620423 NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395 		JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO MIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO MIM:620806 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GOLGA2 golgin A2 IAGP HPO MIM:620240 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO MIM:619603 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO MIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP HPO MIM:617537 NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO MIM:619797 NCBI chr 2:239,048,168...239,401,649
NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HHAT hedgehog acyltransferase IAGP HPO MIM:600092 NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296 		JBrowse link
G HID1 HID1 domain containing IAGP HPO MIM:619983 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 IAGP HPO MIM:616977 NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:206700 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO MIM:606170 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO MIM:614959 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KCNT2 potassium sodium-activated channel subfamily T member 2 IAGP HPO MIM:617771 NCBI chr 1:196,225,779...196,608,440
Ensembl chr 1:196,225,779...196,609,225 		JBrowse link
G KIF2A kinesin family member 2A IAGP HPO MIM:615411 NCBI chr 5:62,306,206...62,391,025
Ensembl chr 5:62,306,162...62,391,025 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP HPO MIM:620106 NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682 		JBrowse link
G LIG3 DNA ligase 3 IAGP HPO MIM:619780 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP HPO MIM:619694 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LYRM7 LYR motif containing 7 IAGP HPO MIM:615838 NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428 		JBrowse link
G LYSET lysosomal enzyme trafficking factor IAGP HPO MIM:619345 NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO ORPHA:572013 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO MIM:615280 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAST3 microtubule associated serine/threonine kinase 3 IAGP HPO MIM:620115 NCBI chr19:18,097,778...18,151,687
Ensembl chr19:18,097,778...18,151,692 		JBrowse link
G MED23 mediator complex subunit 23 IAGP HPO MIM:614249 NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242 		JBrowse link
G MED27 mediator complex subunit 27 IAGP HPO MIM:619286 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO MIM:619527 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO MIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP HPO MIM:607398 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO MIM:616521 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		JBrowse link
G NFIB nuclear factor I B IAGP HPO MIM:618286 NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO MIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO MIM:613162 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G NUDT2 nudix hydrolase 2 IAGP HPO MIM:619844 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,713 		JBrowse link
G NUP188 nucleoporin 188 IAGP DNA:frameshift mutations, nonsense mutations:CDS:multiple RGD PMID:32275884 RGD:243048418 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G OTUD7A OTU deubiquitinase 7A IAGP HPO MIM:620790 NCBI chr15:31,475,398...31,870,673
Ensembl chr15:31,475,398...31,870,789 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO MIM:615716 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312080 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO MIM:618528 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:620675 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO MIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO ORPHA:544469 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO MIM:620719 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
G RAB11B RAB11B, member RAS oncogene family IAGP HPO MIM:617807 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434 		JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO MIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901 		JBrowse link
G RBL2 RB transcriptional corepressor like 2 IAGP HPO MIM:619690 NCBI chr16:53,434,471...53,491,648
Ensembl chr16:53,433,977...53,491,648 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RNF220 ring finger protein 220 IAGP HPO MIM:619688 NCBI chr 1:44,404,783...44,651,724
Ensembl chr 1:44,405,194...44,651,723 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO MIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO ORPHA:2254 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO MIM:620774 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO MIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
G SLITRK2 SLIT and NTRK like family member 2 IAGP HPO MIM:301107 NCBI chr  X:145,817,829...145,829,856
Ensembl chr  X:145,817,829...145,829,856 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO MIM:619293 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMARCC2 SWI/SNF related BAF chromatin remodeling complex subunit C2 IAGP HPO MIM:618362 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:602099 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP HPO MIM:248900 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP HPO MIM:619480 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G SV2A synaptic vesicle glycoprotein 2A IAGP HPO MIM:620772 NCBI chr 1:149,903,318...149,917,844
Ensembl chr 1:149,903,318...149,917,844 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO MIM:617389 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TEFM transcription elongation factor, mitochondrial IAGP HPO MIM:620451 NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238 		JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 IAGP HPO MIM:619908 NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP HPO MIM:620075 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TNR tenascin R IAGP HPO MIM:619653 NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO MIM:617026 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TUBB tubulin beta class I IAGP HPO MIM:615771 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:614039 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TUBG1 tubulin gamma 1 IAGP HPO MIM:615412 NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238 		JBrowse link
G UBE3C ubiquitin protein ligase E3C IAGP HPO MIM:620270 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A IAGP HPO MIM:619273 NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO ORPHA:2254 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO MIM:617616 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO MIM:616211 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G ZNF526 zinc finger protein 526 IAGP HPO MIM:619877 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201 		JBrowse link
Thinning of the substantia nigra pars compacta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:619911 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
Tubulonodular pericallosal lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO MIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
White mater abnormalities in the posterior periventricular region term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO MIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the nervous system 33675
        Abnormal nervous system morphology 8690
          Morphological central nervous system abnormality 8573
            Abnormal brain morphology 4284
              Abnormal forebrain morphology 3121
                Abnormal cerebral morphology 3012
                  Abnormal cerebral subcortex morphology 1259
                    Abnormal basal ganglia morphology + 200
                    Abnormal cerebral white matter morphology + 1160
                    Cerebral subcortical cyst 2
                    Recurrent subcortical infarcts 4
                    Subcortical U fiber lesion 0
paths to the root