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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal cerebral subcortex morphology
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Accession:HP:0010993 term browser browse the term
Definition:An abnormality of the cerebral subcortex.
Comment:The cerebral subcortex contains the basal ganglia and the cerebral white matter.
Synonyms:exact_synonym: Abnormality of the cerebral medulla;   Abnormality of the cerebral subcortex
 xref: UMLS:C4021207



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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