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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 metencephalon morphology
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Accession:HP:0011283 term browser browse the term
Definition:An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.
Synonyms:exact_synonym: Abnormality of the metencephalon
 xref: UMLS:C4023432


show annotations for term's descendants           Sort by:
Abnormal cerebellar cortex morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:101111 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:70595 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO ORPHA:70595 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
Abnormal cerebellar peduncle morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
Abnormal cerebellar vermis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IAGP ClinVar Annotator: match by term: Abnormal cerebellar vermis morphology ClinVar PMID:25741868 PMID:28492532 PMID:35229910 NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G MYO5A myosin VA IAGP HPO ORPHA:33445 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO ORPHA:559 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Abnormal cerebellum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO ORPHA:101070 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP ClinVar Annotator: match by term: Cerebellar signs ClinVar PMID:26467025 PMID:28492532 PMID:32219868 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447753 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO ORPHA:85335 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP ClinVar Annotator: match by term: Abnormality of the cerebellum ClinVar PMID:25741868 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO ORPHA:101006 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO MIM:618056 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO ORPHA:458803 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP HPO MIM:204200 NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:270800 ORPHA:100986 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:137898 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP HPO MIM:162350 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP HPO MIM:615681 ORPHA:401785 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033 		JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Cerebellar signs ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO ORPHA:447753 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GAN gigaxonin IAGP HPO MIM:256850 ORPHA:643 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,884 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO MIM:123400 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 IAGP HPO MIM:610532 ORPHA:85163 NCBI chr 7:22,895,843...23,014,130
Ensembl chr 7:22,889,371...23,014,130 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del RGD PMID:20082166 RGD:6480871 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:169500 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP HPO MIM:618242 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO MIM:618349 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312920 ORPHA:280234 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370959 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta IAGP HPO ORPHA:98762 NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:123400 ORPHA:356 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:101070 ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RNF170 ring finger protein 170 IAGP HPO MIM:608984 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO MIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SPART spartin IAGP HPO MIM:275900 ORPHA:101000 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP HPO ORPHA:101001 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM:617757 ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBP TATA-box binding protein onset IAGP DNA:repeat:cds:g.172(CAG/CAA)47-55 RGD PMID:11448935 RGD:5684015 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO MIM:300957 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:401795 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G WDR37 WD repeat domain 37 IAGP HPO MIM:618652 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO MIM:270700 ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP HPO ORPHA:329228 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203 		JBrowse link
Abnormal dentate nucleus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 MIM:619517 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO MIM:203450 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
Abnormal pons morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 IAGP HPO ORPHA:370997 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G RANBP2 RAN binding protein 2 susceptibility IAGP DNA:missense mutation:cds:p.T585M RGD PMID:19118815 RGD:9835035 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
Abnormal superior cerebellar peduncle morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
Agenesis of cerebellar vermis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,183,828...18,209,954
Ensembl chr17:18,183,078...18,209,954 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO MIM:613451 ORPHA:228390 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G ARL13B ARF like GTPase 13B IAGP ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO MIM:615287 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G BST1 bone marrow stromal cell antigen 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,703,065...15,774,173
Ensembl chr 4:15,703,065...15,738,313 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CD38 CD38 molecule IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,778,328...15,853,232
Ensembl chr 4:15,778,275...15,853,232 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar
HPO		 MIM:610188 MIM:611134 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COPS3 COP9 signalosome subunit 3 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,246,616...17,281,246
Ensembl chr17:17,246,616...17,281,273 		JBrowse link
G DRC3 dynein regulatory complex subunit 3 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,972,813...18,016,889
Ensembl chr17:17,972,813...18,016,889 		JBrowse link
G DRG2 developmentally regulated GTP binding protein 2 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,087,948...18,107,969
Ensembl chr17:18,087,892...18,107,970 		JBrowse link
G EPN2 epsin 2 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,237,366...19,336,715
Ensembl chr17:19,215,615...19,336,715 		JBrowse link
G EVPLL envoplakin like IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,377,778...18,389,647
Ensembl chr17:18,377,778...18,389,647 		JBrowse link
G FAM200B family with sequence similarity 200 member B IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,636,791...15,690,447
Ensembl chr 4:15,681,662...15,690,447 		JBrowse link
G FAM83G family with sequence similarity 83 member G IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,968,789...19,006,116
Ensembl chr17:18,968,789...19,004,764 		JBrowse link
G FBXL5 F-box and leucine rich repeat protein 5 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,604,381...15,681,569
Ensembl chr 4:15,604,381...15,681,679 		JBrowse link
G FBXW10 F-box and WD repeat domain containing 10 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,744,054...18,779,349
Ensembl chr17:18,744,026...18,779,349 		JBrowse link
G FGFBP1 fibroblast growth factor binding protein 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,935,577...15,938,740
Ensembl chr 4:15,935,577...15,938,740 		JBrowse link
G FGFBP2 fibroblast growth factor binding protein 2 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,960,245...15,963,175
Ensembl chr 4:15,960,245...15,969,309 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:613153 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G GID4 GID complex subunit 4 homolog IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,039,408...18,068,405
Ensembl chr17:18,039,408...18,068,405 		JBrowse link
G GRAP GRB2 related adaptor protein IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,020,656...19,051,373
Ensembl chr17:19,020,656...19,047,011 		JBrowse link
G GRAPL GRB2 related adaptor protein like IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,127,589...19,159,187
Ensembl chr17:19,020,656...19,047,011
Ensembl chr17:19,020,656...19,047,011 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Cerebellar vermis aplasia
ClinVar Annotator: match by term: Agenesis of cerebellar vermis		 ClinVar
HPO		 MIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO MIM:616258 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP HPO MIM:620106 NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682 		JBrowse link
G LGALS9C galectin 9C IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,476,789...18,494,945
Ensembl chr17:18,476,737...18,494,945 		JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,225,635...18,244,875
Ensembl chr17:18,225,635...18,244,875 		JBrowse link
G MAPK7 mitogen-activated protein kinase 7 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,377,750...19,383,544
Ensembl chr17:19,377,721...19,383,544 		JBrowse link
G MED9 mediator complex subunit 9 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,477,000...17,493,221
Ensembl chr17:17,476,994...17,493,221 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO ORPHA:228384 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MFAP4 microfibril associated protein 4 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,383,445...19,387,190
Ensembl chr17:19,383,442...19,387,190 		JBrowse link
G MIEF2 mitochondrial elongation factor 2 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,260,662...18,266,552
Ensembl chr17:18,260,597...18,266,552 		JBrowse link
G MIR33B microRNA 33b IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,813,836...17,813,931
Ensembl chr17:17,813,836...17,813,931 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MPRIP myosin phosphatase Rho interacting protein IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,042,457...17,192,643
Ensembl chr17:17,042,457...17,217,679 		JBrowse link
G MVK mevalonate kinase IAGP HPO MIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G NT5M 5',3'-nucleotidase, mitochondrial IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,303,373...17,347,663
Ensembl chr17:17,303,335...17,347,663 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO MIM:615665 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,505,563...17,592,142
Ensembl chr17:17,505,563...17,591,708 		JBrowse link
G PLD6 phospholipase D family member 6 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,200,995...17,206,333
Ensembl chr17:17,200,995...17,206,333 		JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,856,299...18,931,287
Ensembl chr17:18,840,085...18,931,287 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP HPO MIM:609069 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RASD1 ras related dexamethasone induced 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,494,437...17,496,395
Ensembl chr17:17,494,437...17,496,395 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RNF112 ring finger protein 112 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,411,232...19,417,276
Ensembl chr17:19,411,125...19,417,276 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Cerebellar vermis aplasia ClinVar NCBI chr 9:136,440,105...136,484,740
Ensembl chr 9:136,440,096...136,483,759 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,327,873...18,363,550
Ensembl chr17:18,327,873...18,363,550 		JBrowse link
G SLC47A1 solute carrier family 47 member 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,533,854...19,579,034
Ensembl chr17:19,495,385...19,579,034 		JBrowse link
G SLC5A10 solute carrier family 5 member 10 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,950,676...19,022,565
Ensembl chr17:18,950,345...19,022,595 		JBrowse link
G SMCR8 SMCR8-C9orf72 complex subunit IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,315,293...18,328,056
Ensembl chr17:18,315,293...18,328,056 		JBrowse link
G SNORD3A small nucleolar RNA, C/D box 3A IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:19,188,016...19,188,232
Ensembl chr17:19,188,016...19,188,714 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G TBC1D28 TBC1 domain family member 28 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,634,247...18,644,391
Ensembl chr17:18,634,247...18,644,427 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO MIM:614815 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO MIM:614424 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TOM1L2 target of myb1 like 2 membrane trafficking protein IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:17,843,511...17,972,400
Ensembl chr17:17,843,507...17,972,422 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TRIM16L tripartite motif containing 16 like (pseudogene) IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,697,998...18,736,112
Ensembl chr17:18,722,237...18,735,460
Ensembl chr17:18,722,237...18,735,460 		JBrowse link
G TVP23B trans-golgi network vesicle protein 23 homolog B IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr17:18,781,183...18,806,714
Ensembl chr17:18,781,111...18,806,714 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Aplasia of the inferior half of the cerebellar vermis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:613154 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO MIM:610185 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
Aplasia/Hypoplasia of the cerebellar vermis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACY1 aminoacylase 1 IAGP HPO ORPHA:137754 NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP HPO ORPHA:65 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:610188 MIM:610189 ORPHA:65 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO ORPHA:65 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRX cone-rod homeobox IAGP HPO ORPHA:65 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G FKRP fukutin related protein IAGP DNA:missense mutation: :p.A455D(human) RGD PMID:14652796 RGD:1358626 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO ORPHA:65 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO ORPHA:65 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:65 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 IAGP HPO ORPHA:65 NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:65 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:117360 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 IAGP HPO ORPHA:65 NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565 		JBrowse link
G LCA5 lebercilin LCA5 IAGP HPO ORPHA:65 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458 		JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:65 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO ORPHA:65 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO ORPHA:137831 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO ORPHA:65 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO ORPHA:401820 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:401830 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RD3 RD3 regulator of GUCY2D IAGP HPO ORPHA:65 NCBI chr 1:211,476,522...211,492,162
Ensembl chr 1:211,476,522...211,492,162 		JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP HPO ORPHA:65 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:65 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:65 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:65 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:216360 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP HPO ORPHA:65 NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707 		JBrowse link
G TULP1 TUB like protein 1 IAGP HPO ORPHA:65 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G USP45 ubiquitin specific peptidase 45 IAGP HPO ORPHA:65 NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728 		JBrowse link
Aplasia/Hypoplasia of the cerebellum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP HPO ORPHA:231178 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO ORPHA:2254 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO ORPHA:1568 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO ORPHA:3157 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:588 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:231169 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CEP85L centrosomal protein 85 like IAGP HPO ORPHA:572013 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP HPO ORPHA:231169 NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:588 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 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 HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ESPN espin IAGP HPO ORPHA:231169 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G EXOSC3 exosome component 3 IAGP HPO ORPHA:2254 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO ORPHA:2254 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO ORPHA:2254 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:3157 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:93262 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:588 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:588 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:36 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:588 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:3157 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Aplasia/Hypoplasia of the cerebellum ClinVar PMID:25741868 PMID:27055666 PMID:31680349 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 HPO ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:36 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP HPO ORPHA:79314 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:588 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO ORPHA:572013 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:563612 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,236 		JBrowse link
G MYO7A myosin VIIA IAGP HPO ORPHA:231169 ORPHA:231178 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO ORPHA:79279 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:3157 ORPHA:990 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PCDH15 protocadherin related 15 IAGP HPO ORPHA:231169 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PDZD7 PDZ domain containing 7 IAGP HPO ORPHA:231178 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:60040 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO ORPHA:2518 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:588 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:588 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:588 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:3157 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO ORPHA:990 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Aplasia/Hypoplasia of the cerebellum ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:1454 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO ORPHA:2254 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO ORPHA:85278 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO ORPHA:3157 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:3157 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:1454 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP associated with Lissencephaly;DNA:missense mutations:cds: RGD PMID:18954413 RGD:11067701 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Aplasia/Hypoplasia of the cerebellum ClinVar PMID:24785942 PMID:25741868 PMID:32581362 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP HPO ORPHA:2518 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP HPO ORPHA:2518 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP HPO ORPHA:231169 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP HPO ORPHA:231169 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP HPO ORPHA:231178 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO ORPHA:563612 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO ORPHA:2254 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO ORPHA:83472 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WHRN whirlin IAGP HPO ORPHA:231178 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473 		JBrowse link
G ZNF592 zinc finger protein 592 IAGP HPO ORPHA:83472 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
Atrophy of the dentate nucleus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 IAGP HPO MIM:125370 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO MIM:610185 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
Cerebellar agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EN1 engrailed homeobox 1 IAGP HPO MIM:619218 NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP HPO MIM:609069 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO MIM:617967 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
Cerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615889 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO MIM:301310 ORPHA:2802 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:369942 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ABHD12 abhydrolase domain containing 12, lysophospholipase IAGP HPO MIM:612674 NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835 		JBrowse link
G ACO2 aconitase 2 IAGP HPO MIM:614559 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273 		JBrowse link
G ACTL6B actin like 6B IAGP HPO MIM:618468 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ACY1 aminoacylase 1 IAGP HPO MIM:609924 NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197 		JBrowse link
G ADPRS ADP-ribosylserine hydrolase IAGP HPO MIM:618170 NCBI chr 1:36,088,892...36,093,932
Ensembl chr 1:36,088,892...36,093,932 		JBrowse link
G ADSL adenylosuccinate lyase IAGP HPO MIM:103050 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP DNA:missense mutation:exon:p.E700K (c.2098G>A) (human)
DNA:missense mutation:exon:p.P688T (c.2062C>A) (human)
DNA:deletion		 HPO
RGD		 PMID:20354562 PMID:26868664 PMID:24814845 MIM:610246 MIM:614487 ORPHA:313772, RGD:11532675, RGD:11532678, RGD:11534993 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO MIM:618276 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 IAGP HPO MIM:618006 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP HPO MIM:271980 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO ORPHA:79327 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO MIM:601110 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:608776 ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ANO10 anoctamin 10 IAGP HPO MIM:613728 ORPHA:284289 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO MIM:617276 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO MIM:613744 ORPHA:280763 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO MIM:612936 ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G APTX aprataxin IAGP HPO MIM:208920 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G ARCN1 archain 1 IAGP HPO MIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARG1 arginase 1 IAGP HPO MIM:207800 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO MIM:617622 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARX aristaless related homeobox IAGP HPO ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO MIM:617183 ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin IAGP HPO MIM:601238 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO MIM:617225 ORPHA:513436 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:602481 MIM:619605 ORPHA:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:619606 ORPHA:71517 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP HPO MIM:302500 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300423 ORPHA:93952 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 IAGP HPO MIM:619971 NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:618012 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP8A2 ATPase phospholipid transporting 8A2 IAGP HPO MIM:615268 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATXN1 ataxin 1 IAGP HPO ORPHA:98755 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G ATXN10 ataxin 10 IAGP HPO MIM:603516 ORPHA:98761 NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:183090 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G ATXN7 ataxin 7 IAGP HPO ORPHA:94147 NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462 		JBrowse link
G ATXN8 ataxin 8 IAGP HPO MIM:608768 ORPHA:98760
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:608768 ORPHA:98760 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO MIM:300475 ORPHA:369939 ORPHA:369942 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP HPO MIM:619641 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP HPO MIM:301029 NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO MIM:124000 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G BEAN1 brain expressed associated with NEDD4 1 IAGP HPO MIM:117210 ORPHA:217012 NCBI chr16:66,427,295...66,495,288
Ensembl chr16:66,427,295...66,493,529 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO MIM:618056 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Cerebellar atrophy ClinVar
HPO		 PMID:25741868 MIM:141500 MIM:183086 ORPHA:569 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO MIM:616795 ORPHA:458803 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP HPO MIM:617799 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAPN1 calpain 1 IAGP HPO MIM:616907 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CAPRIN1 cell cycle associated protein 1 IAGP HPO MIM:620636 NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO MIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616672 NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CCDC88A coiled-coil domain containing 88A IAGP HPO MIM:617507 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CERS1 ceramide synthase 1 IAGP HPO MIM:616230 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP HPO ORPHA:420492 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO MIM:272440 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:618541 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP HPO MIM:256731 NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143 		JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP HPO MIM:600143 MIM:610003 ORPHA:1947 NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:616271 MIM:619835 ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP HPO MIM:619071 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:616286 MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COA7 cytochrome c oxidase assembly factor 7 IAGP HPO MIM:618387 NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO MIM:613612 ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO MIM:608779 ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 ORPHA:95428 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO MIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO MIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO MIM:620666 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G COQ5 coenzyme Q5, methyltransferase IAGP HPO MIM:619028 NCBI chr12:120,503,279...120,529,158
Ensembl chr12:120,503,279...120,534,434 		JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Cerebellar atrophy HPO
ClinVar		 PMID:25558065 PMID:25741868 MIM:612016 ORPHA:139485 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G COQ9 coenzyme Q9 IAGP HPO MIM:614654 NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270 		JBrowse link
G COX4I1 cytochrome c oxidase subunit 4I1 IAGP HPO MIM:619060 NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068 		JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:352582 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CRAT carnitine O-acetyltransferase IAGP HPO MIM:617917 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:370980 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:617915 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTSD cathepsin D IAGP HPO MIM:610127 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G CTSF cathepsin F IAGP HPO MIM:615362 NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879 		JBrowse link
G CUX2 cut like homeobox 2 IAGP HPO MIM:618141 NCBI chr12:111,034,165...111,350,554
Ensembl chr12:111,034,165...111,350,554 		JBrowse link
G CWF19L1 CWF19 like cell cycle control factor 1 IAGP HPO MIM:616127 NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680 		JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:621 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYB5R3 cytochrome b5 reductase 3 IAGP HPO ORPHA:621 NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP HPO MIM:618008 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G DAB1 DAB adaptor protein 1 IAGP HPO MIM:615945 NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:137898 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO MIM:620133 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP HPO MIM:618404 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO MIM:617804 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:1934 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO MIM:616192 ORPHA:445062 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:330050 ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO MIM:604121 ORPHA:314404 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DOHH deoxyhypusine hydroxylase IAGP HPO MIM:620066 NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO MIM:617330 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IAGP HPO MIM:609306 ORPHA:101112 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO MIM:133190 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 IAGP HPO ORPHA:423296 NCBI chr 6:53,267,404...53,348,950
Ensembl chr 6:53,267,398...53,349,179 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP HPO MIM:616875 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP HPO MIM:617951 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO MIM:610651 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO MIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G EXOSC3 exosome component 3 IAGP HPO MIM:614678 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO MIM:619576 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO MIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP ClinVar Annotator: match by term: Cerebellar atrophy ClinVar
HPO		 PMID:32581362 MIM:612319 ORPHA:171629 ORPHA:329308 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO ORPHA:438178 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614946 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FAT2 FAT atypical cadherin 2 IAGP HPO MIM:617769 NCBI chr 5:151,504,092...151,594,819
Ensembl chr 5:151,504,092...151,591,331 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FCSK fucose kinase IAGP HPO MIM:618324 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO MIM:617166 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
G FGF14 fibroblast growth factor 14 IAGP HPO MIM:193003 MIM:620174 ORPHA:98764 NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:606612 ORPHA:370980 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:370980 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO MIM:300623 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO MIM:618241 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FRRS1L ferric chelate reductase 1 like IAGP HPO MIM:616981 NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G FXN frataxin IAGP HPO ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP HPO MIM:619124 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO MIM:614409 ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GDAP2 ganglioside induced differentiation associated protein 2 IAGP HPO MIM:618369 NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621 		JBrowse link
G GEMIN5 gem nuclear organelle associated protein 5 IAGP HPO MIM:619333 NCBI chr 5:154,887,411...154,938,211
Ensembl chr 5:154,887,411...154,938,211 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363717 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO MIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GLS glutaminase IAGP HPO MIM:618412 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO MIM:617493 ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO MIM:619603 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP HPO MIM:617810 ORPHA:529665 NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 IAGP HPO MIM:618917 NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146 		JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 IAGP HPO MIM:616204 NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO MIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO MIM:614254 ORPHA:1934 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP HPO MIM:614831 MIM:617691 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO MIM:618922 ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G GRN granulin precursor IAGP HPO MIM:614706 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO MIM:619797 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO MIM:613925 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO MIM:617011 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309162 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO MIM:620711 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:233400 MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HTT huntingtin IAGP HPO MIM:143100 MIM:617435 ORPHA:248111 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO ORPHA:468661 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFRD1 interferon related developmental regulator 1 IAGP HPO ORPHA:98771 NCBI chr 7:112,423,174...112,477,203
Ensembl chr 7:112,422,887...112,481,017 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G IRF2BPL interferon regulatory factor 2 binding protein like IAGP HPO MIM:618088 NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:117360 MIM:206700 MIM:606658 ORPHA:208513 ORPHA:98769 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO MIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO MIM:616212 ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 ORPHA:37612 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 IAGP HPO MIM:616187 NCBI chr11:17,734,781...17,783,057
Ensembl chr11:17,734,774...17,856,804 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP HPO MIM:605259 ORPHA:98768 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP HPO MIM:607346 ORPHA:98772 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO MIM:612780 ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO MIM:617643 MIM:618729 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 IAGP HPO MIM:611726 ORPHA:263516 NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO MIM:610357 MIM:614255 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF1C kinesin family member 1C IAGP HPO MIM:611302 ORPHA:397946 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Degeneration of cerebellum ClinVar PMID:22832583 PMID:25741868 PMID:29926297 PMID:30352910 PMID:30981987 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO ORPHA:496689 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:236792 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO MIM:301006 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:620089 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LIG3 DNA ligase 3 IAGP HPO MIM:619780 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP HPO MIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LNPK lunapark, ER junction formation factor IAGP HPO MIM:618090 NCBI chr 2:175,923,882...176,002,820
Ensembl chr 2:175,923,882...176,002,839 		JBrowse link
G LYRM7 LYR motif containing 7 IAGP HPO MIM:615838 NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G MAG myelin associated glycoprotein IAGP HPO MIM:616680 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G MAGED2 MAGE family member D2 IAGP ClinVar Annotator: match by term: Degeneration of cerebellum ClinVar NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:248500 ORPHA:309282 ORPHA:309288 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO MIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611390 MIM:616430 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO MIM:252650 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO MIM:617339 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MED11 mediator complex subunit 11 IAGP HPO MIM:620327 NCBI chr17:4,731,428...4,733,607
Ensembl chr17:4,731,428...4,733,608 		JBrowse link
G MED27 mediator complex subunit 27 IAGP HPO MIM:619286 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
G MFF mitochondrial fission factor IAGP HPO MIM:617086 ORPHA:485421 NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO MIM:610951 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO MIM:615084 ORPHA:352447 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G MICOS13 mitochondrial contact site and cristae organizing system subunit 13 IAGP HPO MIM:618329 NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO MIM:619090 ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP HPO MIM:604391 ORPHA:251347 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MRM2 mitochondrial rRNA methyltransferase 2 IAGP HPO MIM:618567 NCBI chr 7:2,234,195...2,242,205
Ensembl chr 7:2,234,195...2,242,205 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 IAGP HPO MIM:617664 NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP DNA:missense mutation:cds:m.8993T>G, p.L156R
ClinVar Annotator: match by term: Degeneration of cerebellum		 HPO
ClinVar
RGD		 PMID:24986921 PMID:32581362 PMID:11843698 ORPHA:254913, RGD:13825442 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase IAGP HPO MIM:618367 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379 		JBrowse link
G MVK mevalonate kinase IAGP HPO MIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO MIM:616034 ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:616266 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616239 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:89844 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO MIM:301020 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 IAGP HPO MIM:618249 NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054 		JBrowse link
G NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 IAGP HPO MIM:619272 NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP HPO MIM:618247 NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO MIM:618237 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO MIM:618226 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO MIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G NFASC neurofascin IAGP HPO MIM:618356 NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 ORPHA:527497 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO MIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO MIM:270100 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP HPO MIM:614153 NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO MIM:618866 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NPTX1 neuronal pentraxin 1 IAGP HPO MIM:620158 NCBI chr17:80,466,834...80,476,607
Ensembl chr17:80,466,834...80,477,843 		JBrowse link
G NUP214 nucleoporin 214 IAGP HPO MIM:618426 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO MIM:210000 ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO MIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO ORPHA:329224 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO MIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		JBrowse link
G PCNA proliferating cell nuclear antigen IAGP HPO MIM:615919 ORPHA:438134 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PDYN prodynorphin IAGP HPO MIM:610245 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614871 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614877 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 MIM:614867 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 MIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:488635 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PIGK phosphatidylinositol glycan anchor biosynthesis class K IAGP HPO MIM:618879 NCBI chr 1:77,088,989...77,219,430
Ensembl chr 1:77,088,989...77,219,430 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO MIM:614080 ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO MIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO MIM:615398 ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO MIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP HPO MIM:615217 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712 		JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 IAGP HPO MIM:619405 NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:deletion:cds:p.V691del		 HPO
RGD		 PMID:19138334 PMID:17033970 MIM:256600 MIM:610217 ORPHA:35069, RGD:6482736, RGD:6482740 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO MIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLD3 phospholipase D family member 3 IAGP HPO MIM:617770 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472 		JBrowse link
G PLK4 polo like kinase 4 IAGP HPO MIM:616171 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO MIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP HPO ORPHA:1170 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G PMPCB peptidase, mitochondrial processing subunit beta IAGP HPO MIM:617954 NCBI chr 7:103,297,435...103,347,542
Ensembl chr 7:103,297,407...103,331,818 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO MIM:613402 MIM:616267 ORPHA:1934 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Cerebellar atrophy ClinVar
HPO		 PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... MIM:215470 MIM:612020 ORPHA:139480 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO MIM:608703 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO MIM:301030 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:203700 MIM:258450 ORPHA:254886 ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO MIM:610131 MIM:619425 ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:620675 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO MIM:616494 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:607694 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:607694 MIM:614381 MIM:619742 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198 		JBrowse link
G POLR3K RNA polymerase III subunit K IAGP HPO MIM:619310 NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370980 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta IAGP HPO MIM:604326 ORPHA:98762 NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784 		JBrowse link
G PRDX3 peroxiredoxin 3 IAGP HPO MIM:619862 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812 		JBrowse link
G PRKCG protein kinase C gamma IAGP HPO MIM:605361 NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:137440 ORPHA:157941 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO MIM:617481 ORPHA:544469 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO MIM:616263 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611523 NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028 		JBrowse link
G RBL2 RB transcriptional corepressor like 2 IAGP HPO MIM:619690 NCBI chr16:53,434,471...53,491,648
Ensembl chr16:53,433,977...53,491,648 		JBrowse link
G RELN reelin IAGP HPO ORPHA:89844 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP HPO MIM:617916 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261 		JBrowse link
G RFC1 replication factor C subunit 1 IAGP HPO MIM:614575 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO MIM:616479 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO MIM:610333 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNF13 ring finger protein 13 IAGP HPO ORPHA:544503 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
G RNF170 ring finger protein 170 IAGP HPO MIM:619686 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G RNF216 ring finger protein 216 IAGP HPO MIM:212840 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO ORPHA:512260 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RTTN rotatin IAGP HPO MIM:614833 ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP HPO MIM:615705 NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G SACS sacsin molecular chaperone IAGP HPO ORPHA:98 NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:159550 MIM:619806 ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SCAF4 SR-related CTD associated factor 4 IAGP HPO MIM:620511 NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO MIM:254900 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:569 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:1934 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO MIM:614306 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO MIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SEMA6B semaphorin 6B IAGP HPO MIM:618876 NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO MIM:613811 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SERAC1 serine active site containing 1 IAGP HPO MIM:614739 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Cerebellar atrophy HPO
ClinVar		 PMID:25558065 PMID:25741868 PMID:26467025 MIM:606002 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO ORPHA:99949 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor IAGP HPO MIM:619922 NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO MIM:248800 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP HPO MIM:618384 NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP HPO MIM:620603 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO MIM:612656 ORPHA:209967 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO MIM:616505 MIM:619303 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 IAGP HPO MIM:620306 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP HPO MIM:614482 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO MIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 ORPHA:521406 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO MIM:616721 ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO MIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP HPO MIM:618973 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 IAGP HPO MIM:616291 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO MIM:300243 ORPHA:85278 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: Cerebellar atrophy ClinVar PMID:25741868 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP HPO MIM:620515 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SNF8 SNF8 subunit of ESCRT-II IAGP HPO MIM:620783 MIM:620784 NCBI chr17:48,929,316...48,944,842
Ensembl chr17:48,929,316...48,944,842 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO MIM:616354 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO MIM:618598 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO MIM:618506 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G SPART spartin IAGP HPO MIM:275900 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP HPO MIM:248900 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO MIM:607259 ORPHA:99013 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:613477 MIM:620538 MIM:620540 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP HPO MIM:600224 MIM:615386 ORPHA:352403 ORPHA:98766 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,496...66,744,670 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO MIM:617145 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP HPO MIM:615596 ORPHA:370921 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G STT3B STT3 oligosaccharyltransferase complex catalytic subunit B IAGP HPO MIM:615597 ORPHA:370924 NCBI chr 3:31,532,925...31,637,616
Ensembl chr 3:31,532,638...31,638,548 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO MIM:615768 MIM:618093 ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:272200 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP associated with Spinocerebellar Ataxia, Autosomal Recessive 8;DNA:mutations:multiple: HPO
RGD		 PMID:27086870 MIM:610743 ORPHA:88644, RGD:13209001 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYT14 synaptotagmin 14 IAGP HPO MIM:614229 ORPHA:284271 NCBI chr 1:209,938,217...210,171,389
Ensembl chr 1:209,900,923...210,171,389 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO MIM:615663 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Cerebellar atrophy HPO
ClinVar		 PMID:25741868 PMID:28492532 PMID:31922275 PMID:32581362 ORPHA:352582 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO MIM:619323 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO MIM:617193 ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:617207 ORPHA:496756 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:607136 ORPHA:98759 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP HPO MIM:607250 NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP HPO ORPHA:320385 NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477 		JBrowse link
G TEFM transcription elongation factor, mitochondrial IAGP HPO MIM:620451 NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238 		JBrowse link
G TGM6 transglutaminase 6 IAGP HPO MIM:613908 ORPHA:276193 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP HPO MIM:607454 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM47 transmembrane protein 47 IAGP ClinVar Annotator: match by term: Degeneration of cerebellum ClinVar NCBI chr  X:34,627,075...34,657,285
Ensembl chr  X:34,627,075...34,657,285 		JBrowse link
G TMX2 thioredoxin related transmembrane protein 2 IAGP HPO MIM:618730 NCBI chr11:57,712,593...57,740,973
Ensembl chr11:57,712,580...57,742,987 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP HPO MIM:618098 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO MIM:609270 ORPHA:284324 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO MIM:615356 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP HPO MIM:618741 NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP HPO MIM:617862 NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP HPO MIM:618302 NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567 		JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 IAGP HPO MIM:616410 NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO MIM:612389 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620453 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TTBK2 tau tubulin kinase 2 IAGP HPO MIM:604432 NCBI chr15:42,738,730...42,921,000
Ensembl chr15:42,738,730...42,920,809 		JBrowse link
G TTC19 tetratricopeptide repeat domain 19 IAGP HPO MIM:615157 NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015 		JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO MIM:277460 ORPHA:96 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:612438 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:271245 ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TXN2 thioredoxin 2 IAGP HPO MIM:616811 NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO MIM:617132 MIM:617133 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBTF upstream binding transcription factor IAGP HPO MIM:617672 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO MIM:615491 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G UFM1 ubiquitin fold modifier 1 IAGP HPO MIM:617899 NCBI chr13:38,349,851...38,363,619
Ensembl chr13:38,349,849...38,363,619 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP HPO MIM:617802 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752 		JBrowse link
G VLDLR very low density lipoprotein receptor IAGP HPO MIM:224050 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:616683 ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,8