Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 OMIM:300816 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP OMIM:304340 HPO NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP ORPHA:67046 HPO 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: Basal ganglia disease ClinVar PMID:12358323 PMID:25741868 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...13,633,025 		JBrowse link
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B IAGP ORPHA:445038 HPO NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ORPHA:228308 HPO 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 ORPHA:397715 HPO NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G FOXP2 forkhead box P2 IAGP OMIM:602081 HPO NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GSX2 GS homeobox 2 IAGP OMIM:618646 HPO 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 ORPHA:391428 HPO 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 ORPHA:397715 HPO 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 ORPHA:255182 HPO NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ORPHA:447896 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PRNP prion protein IAGP ORPHA:157941 HPO 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 OMIM:607483 HPO 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 OMIM:612073 HPO NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G TK2 thymidine kinase 2 IAGP OMIM:609560 HPO 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: Basal ganglia disease ClinVar PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		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 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP ORPHA:79326 HPO NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ASPA aspartoacylase IAGP ORPHA:314918 HPO 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:25741868 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 ORPHA:51188 HPO 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 OMIM:618855 HPO 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 ORPHA:672 HPO 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 ORPHA:444013 HPO NCBI chr19:17,334,982...17,342,731
Ensembl chr19:17,334,920...17,342,731 		JBrowse link
G MFF mitochondrial fission factor IAGP ORPHA:485421 HPO NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,836 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP ORPHA:401768 HPO NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ORPHA:644
ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity		 HPO
ClinVar		 PMID:25741868 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 ORPHA:431361 HPO 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 ORPHA:309854 HPO 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 ORPHA:17 HPO 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 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: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 ORPHA:314632 HPO 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 ORPHA:397725 HPO NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G DCX doublecortin IAGP ORPHA:2148 HPO NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP ORPHA:25 HPO NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		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 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ORPHA:70474 HPO NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 IAGP ORPHA:70474 HPO NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ORPHA:70474 HPO NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ORPHA:70474 HPO NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ORPHA:70474 HPO NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP ORPHA:300573 HPO 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 OMIM:300100 HPO 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 OMIM:201470 HPO NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP OMIM:618960 HPO NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 IAGP OMIM:618587 HPO 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 OMIM:250100 HPO 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 ORPHA:352577 HPO 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 OMIM:250950 HPO NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP OMIM:617755 HPO NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP ORPHA:100070 ORPHA:275864 HPO NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		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 PMID:30755392 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP ORPHA:100070 ORPHA:275864 HPO NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:25741868 PMID:28492532 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ORPHA:370980 HPO 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 OMIM:221820 HPO 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 ORPHA:411629 HPO NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ORPHA:100986 HPO 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 ORPHA:84081 HPO 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 ORPHA:314404 HPO NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DPYS dihydropyrimidinase IAGP OMIM:222748 HPO NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Abnormality of the cerebral white matter ClinVar PMID:11704758 PMID:15136673 PMID:25741868 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 OMIM:615683 ORPHA:401810 HPO NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266 		JBrowse link
G FBP2 fructose-bisphosphatase 2 IAGP OMIM:619864 HPO 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 OMIM:606612 ORPHA:370980 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:613152 HPO 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 OMIM:618885 HPO 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 ORPHA:363686 HPO NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP OMIM:263570 HPO 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 ORPHA:25 HPO NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP ORPHA:363717 HPO NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 HPO 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 OMIM:302800 HPO 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 ORPHA:100070 ORPHA:275864 HPO NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP OMIM:246450 HPO NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HTT huntingtin IAGP ORPHA:248111 HPO 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 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 OMIM:618596 HPO 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: Leukoaraiosis ClinVar PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 More... NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105 		JBrowse link
G KIF1C kinesin family member 1C IAGP ORPHA:397946 HPO NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP OMIM:618138 HPO 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 ORPHA:352682 HPO 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 ORPHA:298 HPO NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP OMIM:616299 HPO NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP OMIM:617668 HPO NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP OMIM:164310 HPO 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 OMIM:619486 HPO 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 ORPHA:100070 ORPHA:275864 HPO NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		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 MRPL12 mitochondrial ribosomal protein L12 IAGP OMIM:618951 HPO 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 OMIM:614947 HPO NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP ORPHA:2169 HPO 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 OMIM:618321 HPO NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP OMIM:607432 HPO NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP OMIM:614871 HPO NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP OMIM:300868 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP ORPHA:35069 HPO NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP OMIM:608703 HPO 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 OMIM:613662 ORPHA:254886 ORPHA:298 HPO 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 ORPHA:370980 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PRF1 perforin 1 IAGP ORPHA:540 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PSEN1 presenilin 1 IAGP ORPHA:100070 ORPHA:275864 HPO NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G RNF168 ring finger protein 168 IAGP ORPHA:420741 HPO NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ORPHA:298 HPO 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 OMIM:159550 HPO 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 ORPHA:576283 HPO NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP OMIM:618384 HPO 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 OMIM:615905 HPO NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP ORPHA:399 HPO NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...7,936,187 		JBrowse link
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP OMIM:619268 HPO NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239 		JBrowse link
G SNX14 sorting nexin 14 IAGP ORPHA:397709 HPO NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ORPHA:99013 HPO 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 OMIM:617519 HPO NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SQSTM1 sequestosome 1 IAGP ORPHA:275864 HPO 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 OMIM:618886 HPO NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203 		JBrowse link
G STX11 syntaxin 11 IAGP ORPHA:540 HPO 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 ORPHA:540 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ORPHA:88644 HPO 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 OMIM:300957 HPO 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 OMIM:617698 HPO NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TK2 thymidine kinase 2 IAGP ORPHA:254886 HPO NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP ORPHA:100070 ORPHA:275864 HPO 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 OMIM:614727 HPO 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 ORPHA:84081 HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP ORPHA:100070 ORPHA:275864 HPO NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TYMP thymidine phosphorylase IAGP ORPHA:298 HPO NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP OMIM:618076 HPO NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UNC13D unc-13 homolog D IAGP ORPHA:540 HPO NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G VCP valosin containing protein IAGP ORPHA:100070 ORPHA:275864 HPO 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 OMIM:607317 HPO NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		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 ORPHA:442835 HPO NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ACTL6B actin like 6B IAGP ORPHA:442835 HPO NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP ORPHA:442835 HPO 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 OMIM:614607 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP ORPHA:442835 HPO NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733 		JBrowse link
G ASTN1 astrotactin 1 IAGP ClinVar Annotator: match by term: Abnormality of the corpus callosum ClinVar 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,747,027...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:25326635 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 ORPHA:442835 HPO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP OMIM:618268 HPO NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP ORPHA:442835 HPO 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 ORPHA:280195 HPO 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 ORPHA:442835 HPO NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CLTC clathrin heavy chain IAGP ORPHA:442835
ClinVar Annotator: match by term: Abnormality of the corpus callosum		 HPO
ClinVar		 PMID:25741868 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP ORPHA:442835 HPO 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...110,307,157 		JBrowse link
G CREBBP CREB binding protein IAGP ORPHA:353277 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:397715 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP ORPHA:442835 HPO 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 ORPHA:280195 HPO 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 ORPHA:280195 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:353284 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP ORPHA:442835 HPO NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP ORPHA:442835 HPO NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:280195 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FOXH1 forkhead box H1 IAGP ORPHA:280195 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GALC galactosylceramidase IAGP ORPHA:206448 HPO NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GAS1 growth arrest specific 1 IAGP ORPHA:280195 HPO NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ORPHA:280195 HPO 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 ORPHA:672 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:217093 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:397715 HPO NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ORPHA:319182 HPO 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 OMIM:618512 HPO 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 MTOR mechanistic target of rapamycin kinase IAGP ORPHA:457485 HPO NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP ORPHA:442835 HPO 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 ORPHA:280195 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP ORPHA:442835 HPO NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PLP1 proteolipid protein 1 IAGP ORPHA:280229 HPO 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 ORPHA:319514 HPO 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 ORPHA:457279 HPO 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 ORPHA:442835 HPO 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 ORPHA:280195 HPO 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 OMIM:311900 ORPHA:2886 HPO NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP OMIM:611560 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:280195 HPO 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 ORPHA:280195 HPO NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP ORPHA:442835 HPO NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP OMIM:614609 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP OMIM:614608 HPO 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 OMIM:609528 ORPHA:66631 HPO 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 ORPHA:280195 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr21:32,628,759...32,728,040
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ORPHA:442835 HPO NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:280195 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:280195 HPO NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP OMIM:608091 HPO 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 ORPHA:442835 HPO NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ORPHA:467166 HPO NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP ORPHA:467166 HPO 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 ORPHA:467166 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO 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 ORPHA:442835 HPO NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991 		JBrowse link
G ZIC2 Zic family member 2 IAGP ORPHA:280195 HPO 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 ORPHA:238329 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G CP ceruloplasmin IAGP ORPHA:48818 HPO NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ORPHA:2177 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G PDE10A phosphodiesterase 10A IAGP OMIM:616922 HPO 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 ORPHA:319514 HPO 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 ORPHA:3455 HPO 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 C19orf12 chromosome 19 open reading frame 12 IAGP ORPHA:289560 HPO NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
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...13,633,025 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO 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 ORPHA:320411 HPO NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ORPHA:99646 HPO NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ORPHA:439218 HPO NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP OMIM:251000 HPO NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ORPHA:70474 HPO NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 IAGP ORPHA:70474 HPO NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ORPHA:70474 HPO NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP OMIM:618603 HPO NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ORPHA:70474 HPO NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP ORPHA:309854 HPO NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ORPHA:70474 HPO NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		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 ORPHA:139396 HPO 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 ORPHA:1855 HPO 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 ORPHA:447760 HPO 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 OMIM:615686 ORPHA:401805 HPO 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 OMIM:614066 ORPHA:280763 HPO NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ORPHA:280763 HPO 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 ORPHA:280763 HPO NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ORPHA:280763 HPO 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 OMIM:613647 HPO NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP OMIM:617225 ORPHA:513436 HPO 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 ORPHA:2785 HPO 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 OMIM:616737 HPO NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B IAGP OMIM:619835 HPO NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP OMIM:213700 HPO 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 OMIM:618404 HPO 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 ORPHA:98673 HPO 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 ORPHA:329178 HPO 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 OMIM:618992 HPO 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 OMIM:612319 HPO NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FKRP fukutin related protein IAGP ORPHA:370968 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GALC galactosylceramidase IAGP ORPHA:206436 HPO NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ORPHA:370968 HPO 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 OMIM:616881 HPO 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 OMIM:616370 HPO 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 OMIM:619725 HPO 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 OMIM:615960 HPO 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 OMIM:608840 ORPHA:370968 HPO 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 ORPHA:495818 HPO 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 OMIM:615838 HPO 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 OMIM:613443 HPO 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 ORPHA:395 HPO 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 ORPHA:98673 HPO 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 ORPHA:370968 HPO 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 ORPHA:370968 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PSAP prosaposin IAGP OMIM:249900 OMIM:611721 ORPHA:206436 HPO 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 ORPHA:500159 HPO 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 OMIM:617784 HPO NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RTTN rotatin IAGP ORPHA:468631 HPO 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 OMIM:613811 HPO 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 OMIM:606232 HPO NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP OMIM:604360 HPO 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 ORPHA:370927 HPO 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 ORPHA:495818 HPO 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 ORPHA:35706 HPO 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 OMIM:272200 HPO 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 OMIM:616900 HPO 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 OMIM:192315 HPO 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 OMIM:277470 HPO 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 ORPHA:1145 HPO 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 ORPHA:466934 HPO 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 ORPHA:572798 HPO 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 ORPHA:157846 HPO NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP ORPHA:25 HPO NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP ORPHA:88619 HPO 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 ORPHA:2388 HPO 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 ORPHA:98756 HPO NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ORPHA:289560 HPO NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		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...13,633,025 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP ORPHA:98808 HPO 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 ORPHA:98808 HPO 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 ORPHA:98808 HPO 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 ORPHA:2822 HPO 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 ORPHA:572013 HPO 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 OMIM:617542 HPO NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,903 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP ORPHA:572013 HPO 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 ORPHA:467166 HPO NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP ORPHA:467166 HPO 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 ORPHA:467166 HPO 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 OMIM:613163 HPO NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G ACTB actin beta IAGP OMIM:243310 HPO 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 OMIM:614583 HPO 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 OMIM:615286 HPO 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:28221363 PMID:29475819 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 ORPHA:220493 HPO 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 ORPHA:306542 HPO NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP OMIM:136760 HPO 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 ORPHA:228390 HPO NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMT aminomethyltransferase IAGP OMIM:605899 HPO NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685 		JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP OMIM:616681 ORPHA:2512 HPO 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 OMIM:619548 HPO 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 ORPHA:1465 HPO 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 ORPHA:1465
ClinVar Annotator: match by term: Corpus callosum, agenesis of		 HPO
ClinVar		 PMID:25741868 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 ORPHA:1465 HPO 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 PMID:25741868 PMID:28492532 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 ORPHA:3157 HPO NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ARX aristaless related homeobox IAGP OMIM:300004 OMIM:300215 ORPHA:2508 ORPHA:452
ClinVar Annotator: match by term: Corpus callosum, agenesis of		 HPO
ClinVar		 PMID:25741868 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 OMIM:608716 ORPHA:2512 HPO 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 ORPHA:97297 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP ORPHA:847 HPO 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 ORPHA:899 HPO 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 OMIM:261540 HPO 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 OMIM:615287 ORPHA:899 HPO 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...60,553,654
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP ORPHA:139471 HPO 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 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 OMIM:257300 HPO 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 OMIM:218340 HPO 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 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO 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 OMIM:619111 HPO NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP OMIM:619841 HPO NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDH2 cadherin 2 IAGP OMIM:618929
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar Annotator: match by term: Dysplastic or absent corpus callosum		 HPO
ClinVar		 PMID:25741868 PMID:31585109 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 OMIM:617360 HPO 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 OMIM:616342 HPO 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 ORPHA:2512
DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human)		 HPO
RGD		 PMID:23587236 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 ORPHA:2512 HPO 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 OMIM:618748 HPO 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 OMIM:614226 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CENPF centromere protein F IAGP OMIM:243605 HPO NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,195...214,664,571 		JBrowse link
G CENPJ centromere protein J IAGP ORPHA:2512 HPO NCBI chr13:24,882,279...24,941,542
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G CEP120 centrosomal protein 120 IAGP ORPHA:220493 HPO 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 ORPHA:2512 HPO 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 ORPHA:2512 HPO NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP41 centrosomal protein 41 IAGP ORPHA:220493 HPO 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 ORPHA:2512 HPO NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CFC1 cripto, FRL-1, cryptic family 1 IAGP OMIM:605376 HPO 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 OMIM:612651 HPO 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 OMIM:617090 ORPHA:2512 HPO NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP ORPHA:556955 HPO NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ORPHA:899
ClinVar Annotator: match by term: Corpus callosum, agenesis of		 HPO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP ORPHA:2512 HPO 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 OMIM:309801 ORPHA:2556 HPO 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 OMIM:277170 HPO 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 ORPHA:280 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP OMIM:608836 HPO 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 OMIM:180849
ClinVar Annotator: match by term: Corpus callosum agenesis		 HPO
ClinVar		 PMID:12070251 PMID:12114483 PMID:16359492 PMID:17052327 PMID:25741868 More... 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 ORPHA:899 HPO 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 OMIM:618476 HPO 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 ORPHA:280 HPO 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 OMIM:618142 HPO 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 ORPHA:453521 HPO 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 ORPHA:168558 ORPHA:289548 HPO 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 ORPHA:857 HPO NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G DAG1 dystroglycan 1 IAGP ORPHA:899 HPO 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 OMIM:157600 OMIM:617542 ORPHA:238722
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		 HPO
ClinVar		 PMID:24808016 PMID:25741868 PMID:28250454 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,903 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ORPHA:314679 HPO NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DCX doublecortin IAGP OMIM:300067 HPO NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP OMIM:174300 ORPHA:2919 HPO 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 ORPHA:35107 HPO 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 OMIM:618733
ClinVar Annotator: match by term: Dysplastic or absent corpus callosum		 HPO
ClinVar		 PMID:31256877 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 OMIM:267000 HPO NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DISC1 DISC1 scaffold protein IAGP ORPHA:171703 HPO NCBI chr 1:231,626,790...232,041,272
Ensembl chr 1:231,626,790...232,041,272 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:238722 HPO NCBI chr22:38,778,508...38,794,143
Ensembl chr22:38,778,508...38,794,198 		JBrowse link
G DPF2 double PHD fingers 2 IAGP ORPHA:1465 HPO NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ORPHA:459061 HPO NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP OMIM:274270 HPO 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 OMIM:619435 HPO 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 OMIM:618492 HPO 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 OMIM:613091 ORPHA:93271 HPO 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 ORPHA:93271 HPO 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 ORPHA:93271 HPO NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G EFNB1 ephrin B1 IAGP OMIM:304110 HPO 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 ORPHA:96147 HPO 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 OMIM:600348 HPO 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 OMIM:269160 HPO NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546 		JBrowse link
G EOMES eomesodermin IAGP ORPHA:171703 HPO 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 OMIM:180849
ClinVar Annotator: match by term: Corpus callosum, agenesis of		 HPO
ClinVar		 PMID:25741868 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP OMIM:242840 ORPHA:1493 HPO 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 OMIM:616570 HPO 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 OMIM:214150 HPO 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 OMIM:227646 HPO 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 OMIM:609053 HPO 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 ORPHA:314679 HPO 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 OMIM:618324 HPO 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 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 OMIM:147950 OMIM:613001 OMIM:615465 ORPHA:220386 ORPHA:2396 ORPHA:280200 ORPHA:3157 ORPHA:93924 HPO 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 OMIM:101200 OMIM:123790 ORPHA:87 HPO 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 OMIM:194190 HPO 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 OMIM:606812 HPO 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 OMIM:216340 ORPHA:3472 HPO 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 OMIM:236670 OMIM:613153 ORPHA:370959 ORPHA:899 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:236670 OMIM:253800 ORPHA:899 HPO 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 ORPHA:2308 HPO NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLVCR2 FLVCR heme transporter 2 IAGP OMIM:225790 HPO NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G FOXA2 forkhead box A2 IAGP ORPHA:95494 HPO NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G FOXG1 forkhead box G1 IAGP ORPHA:261144 HPO NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,766,787...28,770,277 		JBrowse link
G FOXH1 forkhead box H1 IAGP ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP ORPHA:466688 HPO 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 ORPHA:1606 HPO 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 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GCSH glycine cleavage system protein H IAGP OMIM:605899 HPO NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP OMIM:208530 HPO NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G GLDC glycine decarboxylase IAGP OMIM:605899 HPO 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 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 ORPHA:95494 HPO 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 OMIM:175700 ORPHA:380 HPO 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 ORPHA:370959 HPO 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 OMIM:312870 ORPHA:373 HPO 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 OMIM:312870 ORPHA:373 HPO 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 ORPHA:93317 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,994...1,106,791 		JBrowse link
G H3-3A H3.3 histone A IAGP OMIM:619720 HPO 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 OMIM:309801 ORPHA:2556 HPO NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HESX1 HESX homeobox 1 IAGP OMIM:182230 ORPHA:226307 ORPHA:3157 ORPHA:95494 HPO 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 OMIM:250620 HPO 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 ORPHA:453504 HPO 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 OMIM:620073 HPO 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 ORPHA:238769 HPO 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 OMIM:619194 HPO 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 OMIM:616854 HPO 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 ORPHA:1606 HPO 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 OMIM:236680 ORPHA:2189 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:93271 HPO 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 OMIM:300472 ORPHA:52055 HPO NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:10839543 PMID:11242109 PMID:26197979 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ORPHA:220493 HPO NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP ORPHA:363958 HPO NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP OMIM:606170 ORPHA:85201 HPO 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 ORPHA:89844 HPO 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 ORPHA:1606 HPO 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 OMIM:619320 HPO NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598 		JBrowse link
G KIAA0753 KIAA0753 IAGP OMIM:617127 HPO 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 OMIM:619501 HPO 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 OMIM:616258 ORPHA:2512 HPO 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 ORPHA:261323 HPO NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		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 OMIM:200990 OMIM:607131 OMIM:614120 ORPHA:166024 ORPHA:2189
DNA:missense,frameshift mutations:cds:		 HPO
RGD		 PMID:21552264 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 ORPHA:2512 HPO 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 ORPHA:2396 HPO 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 OMIM:303350 OMIM:307000 ORPHA:2182 ORPHA:2466 HPO 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 OMIM:236670 ORPHA:899 HPO 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 OMIM:194190 ORPHA:280 HPO 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 ORPHA:226307 HPO 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 ORPHA:95494 HPO NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LOC121392929 Sharpr-MPRA regulatory region 9619 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr11:74,138,624...74,138,918 JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ORPHA:1606 HPO NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP ORPHA:2273 HPO 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 ORPHA:2512 HPO NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,728...100,101,940 		JBrowse link
G MCPH1 microcephalin 1 IAGP ORPHA:2512 HPO 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 OMIM:309520
ClinVar Annotator: match by term: Corpus callosum agenesis		 HPO
ClinVar		 PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... 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 OMIM:618872 HPO 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 ORPHA:464738 HPO 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 ORPHA:2512 HPO 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 ORPHA:2512 HPO 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 ORPHA:2745 HPO 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 OMIM:249000 ORPHA:220493 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MLH1 mutL homolog 1 IAGP OMIM:276300 HPO NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ORPHA:1606 HPO NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MRPS16 mitochondrial ribosomal protein S16 IAGP OMIM:610498 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ORPHA:137675 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP ORPHA:563612 HPO 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 OMIM:616239 HPO 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 ORPHA:2512 HPO 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 OMIM:605013 OMIM:614019 ORPHA:89844 HPO 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 OMIM:618238 HPO 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 OMIM:300952 OMIM:309801 ORPHA:2556 HPO 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 ORPHA:280 HPO 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 OMIM:613735 HPO 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 OMIM:602535 HPO 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 ORPHA:209905 HPO 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 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ORPHA:220497 HPO 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 OMIM:194190 ORPHA:280 HPO 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 ORPHA:238722 HPO NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP OMIM:311200 ORPHA:2750 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP OMIM:301056 HPO 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 ORPHA:3157 ORPHA:95494 ORPHA:990 HPO 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 OMIM:312170 HPO 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 ORPHA:255138 HPO 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 ORPHA:255182 HPO NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PDPN podoplanin IAGP ORPHA:1606 HPO NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PDYN prodynorphin IAGP OMIM:610245 HPO NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP ORPHA:401820 HPO 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 ORPHA:2512 HPO NCBI chr12:8,914,509...8,941,467
Ensembl chr12:8,913,896...8,941,467 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP OMIM:256520 HPO 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 OMIM:248700 ORPHA:2461 HPO 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 IAGP ORPHA:280 HPO 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 ORPHA:2059 HPO 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 ORPHA:93925 HPO 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 OMIM:619955 HPO 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 OMIM:619101 HPO 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 OMIM:618603 HPO 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 OMIM:264090 ORPHA:3455 HPO 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 ORPHA:370959 ORPHA:899 HPO 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 ORPHA:899 HPO 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 OMIM:615249 ORPHA:370959 ORPHA:899 HPO 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 OMIM:236670 ORPHA:370959 ORPHA:899 HPO 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 OMIM:236670 OMIM:613150 ORPHA:370959 ORPHA:899 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP OMIM:305600 HPO 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 ORPHA:95494 HPO 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 OMIM:619301 HPO 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 OMIM:618820 HPO 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 OMIM:616362 HPO 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 OMIM:618419 HPO 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 ORPHA:1606 HPO 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 ORPHA:1606 HPO 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 ORPHA:3157 HPO 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 ORPHA:95494 HPO 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 OMIM:202650 ORPHA:990 HPO 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 OMIM:610828 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 OMIM:151050 ORPHA:2658 HPO 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 ORPHA:508498 HPO 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 OMIM:612940 HPO 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 ORPHA:2512 HPO NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP OMIM:600118 HPO 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 ORPHA:401830 HPO 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 OMIM:618577 HPO NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204 		JBrowse link
G RAD51 RAD51 recombinase IAGP ORPHA:238722 HPO 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 OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RELN reelin IAGP ORPHA:89844 HPO 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 ORPHA:1606 HPO NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:220497 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RSPO2 R-spondin 2 IAGP ORPHA:3301 HPO NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RTTN rotatin IAGP OMIM:614833 ORPHA:468631 HPO NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP ORPHA:899 HPO 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 ORPHA:857 HPO NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SASS6 SAS-6 centriolar assembly protein IAGP ORPHA:2512 HPO 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 OMIM:618766 HPO 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 OMIM:618651 HPO 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:29276005 PMID:31474318 PMID:32710489 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 OMIM:164210 HPO NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP ORPHA:48652 HPO NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP OMIM:269160 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 OMIM:157170 OMIM:269160 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 OMIM:206900 HPO NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:1606 HPO 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 OMIM:619083 HPO 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 OMIM:218000 ORPHA:1496 HPO 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 OMIM:618197 HPO 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 ORPHA:99742 HPO 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 OMIM:617595 HPO 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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ORPHA:1465 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ORPHA:1465 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 IAGP ORPHA:1465 HPO NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP OMIM:618779 ORPHA:1465 HPO NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP ORPHA:1465 HPO 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 ORPHA:220386 HPO 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 OMIM:601707 ORPHA:1553 HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP ORPHA:1465 HPO 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 OMIM:206900 ORPHA:3157 ORPHA:77298 HPO 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 ORPHA:3157 HPO 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 ORPHA:1465 HPO 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 ORPHA:1606 HPO 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 OMIM:604360 HPO NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G STAG2 stromal antigen 2 IAGP OMIM:301043 ORPHA:220386 ORPHA:93925 HPO 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 ORPHA:220386 ORPHA:2512 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 ORPHA:280200 HPO 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 OMIM:618786 HPO NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 IAGP ORPHA:2512 HPO NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		JBrowse link
G TCTN3 tectonic family member 3 IAGP OMIM:614815 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 OMIM:619989 HPO NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:220497 HPO 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 OMIM:619466 HPO 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 ORPHA:2512 HPO 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 OMIM:617669 HPO 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 ORPHA:2512 HPO 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 OMIM:619244 HPO NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP OMIM:611603
ClinVar Annotator: match by term: Corpus callosum, agenesis of
associated with Lissencephaly;DNA:missense mutations:cds:		 HPO
ClinVar
RGD		 PMID:18954413 PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 More... RGD:11067701 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G TUBA8 tubulin alpha 8 IAGP ORPHA:250972 HPO 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 OMIM:610031 ORPHA:300573 HPO 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 OMIM:600638 OMIM:614039 HPO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP ORPHA:1606 HPO 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 ORPHA:3472 HPO 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 ORPHA:563612 HPO NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670 		JBrowse link
G VAX1 ventral anterior homeobox 1 IAGP OMIM:614402 HPO NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301 		JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:93271 HPO 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 ORPHA:2512 HPO 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 ORPHA:3301 HPO 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
OMIM:619418		 ClinVar
HPO		 PMID:29232904 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 ORPHA:506358 HPO 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 OMIM:612337 HPO 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 OMIM:235730 ORPHA:261537 ORPHA:261552 HPO 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 OMIM:616602 HPO 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 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO 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 OMIM:617260 HPO 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 OMIM:615095 HPO 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 OMIM:618619 HPO 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 OMIM:619488 HPO 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 OMIM:603671 ORPHA:1827 HPO 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 TUBB3 tubulin beta 3 class III IAGP ORPHA:300570 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO 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 ORPHA:550 HPO NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP OMIM:235730 HPO 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 ORPHA:137754 HPO 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 ORPHA:475 HPO 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 ORPHA:391474 HPO 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 ORPHA:821 HPO NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ORPHA:475 HPO NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP ORPHA:475 HPO 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 ORPHA:475 HPO 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 ORPHA:709 HPO 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 ORPHA:475 ORPHA:564 HPO 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 ORPHA:564 HPO NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:568 HPO 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 OMIM:617822 HPO 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 OMIM:607932 HPO 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 OMIM:115150 HPO 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 ORPHA:1052 HPO 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 ORPHA:1052 HPO 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 ORPHA:1052 HPO NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ORPHA:1777 HPO NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G CBY1 chibby family member 1, beta catenin antagonist IAGP ORPHA:475 HPO 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 ORPHA:1454 ORPHA:2318 ORPHA:564 HPO 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 ORPHA:1308 HPO NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
G CEP104 centrosomal protein 104 IAGP ORPHA:475 HPO 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 ORPHA:475 HPO 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 ORPHA:2318 ORPHA:564 HPO NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP ORPHA:475 HPO 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 ORPHA:1052 HPO 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 ORPHA:2754 ORPHA:475 HPO 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 ORPHA:475 ORPHA:564 HPO 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 ORPHA:819 HPO NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP OMIM:602398 HPO 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 ORPHA:818 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP OMIM:251230 HPO 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 ORPHA:2754 HPO 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 ORPHA:2117 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FKTN fukutin IAGP ORPHA:272 HPO 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 ORPHA:819 HPO 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 chr14:28,766,787...28,770,277 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP OMIM:616819 HPO 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 ORPHA:36 HPO 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 ORPHA:2570 HPO 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 ORPHA:88639 HPO 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 ORPHA:2612 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ORPHA:475 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ORPHA:1454 ORPHA:475 HPO 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 ORPHA:819 HPO 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 ORPHA:475 HPO 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 ORPHA:263516 HPO NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067 		JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:475 HPO NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP ORPHA:2754 HPO 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 OMIM:200990 ORPHA:2754 ORPHA:36 HPO 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 ORPHA:2612 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:235 HPO 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 ORPHA:2378 HPO 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 ORPHA:99027 HPO 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 ORPHA:2143 HPO 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 ORPHA:776 ORPHA:93932 HPO 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 ORPHA:475 ORPHA:564 HPO 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 ORPHA:568 HPO 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 ORPHA:401986 HPO 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 ORPHA:2612 HPO 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 ORPHA:821 HPO NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP ORPHA:235 HPO 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 ORPHA:2754 HPO 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 ORPHA:505237 HPO 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 ORPHA:2754 HPO 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 OMIM:214100 HPO 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 ORPHA:475 HPO NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP OMIM:253280 HPO 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 ORPHA:2510 HPO NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO 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 ORPHA:2510 HPO 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 ORPHA:2510 HPO 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 ORPHA:819 HPO 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 ORPHA:1824 HPO 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 ORPHA:564 HPO NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:1454 ORPHA:564 HPO 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 ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ORPHA:821 HPO NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ORPHA:85278 HPO 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 ORPHA:475 HPO 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 ORPHA:2510 HPO NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TCF4 transcription factor 4 IAGP ORPHA:2896 HPO 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 ORPHA:564 HPO 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 ORPHA:475 ORPHA:564 HPO 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 ORPHA:564 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP ORPHA:2318 HPO NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP ORPHA:2318 ORPHA:2754 ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link