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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:Oculomotor apraxia
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Accession:HP:0000657 term browser browse the term
Definition:Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
Comment:Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements.
Synonyms:exact_synonym: Ocular motor apraxia
 related_synonym: Defective or absent horizontal voluntary eye movements
 alt_id: HP:0000628;   HP:0007764
 xref: SNOMEDCT_US:193662007;   UMLS:C3489733;   UMLS:C4020886


show annotations for term's descendants           Sort by:
Oculomotor apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP HPO ORPHA:1020 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO MIM:614487 ORPHA:313772 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP ClinVar Annotator: match by term: Oculomotor apraxia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:30755392 MIM:608629 ORPHA:220493 ORPHA:475 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G APP amyloid beta precursor protein IAGP HPO ORPHA:1020 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		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 ARFGEF1 ARF guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:67,173,511...67,343,781
Ensembl chr 8:67,173,511...67,343,781 		JBrowse link
G ARL13B ARF like GTPase 13B IAGP HPO MIM:612291 ORPHA:475 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARL3 ARF like GTPase 3 IAGP HPO MIM:618161 ORPHA:475 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO ORPHA:475 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Oculomotor apraxia ClinVar PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:2131 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:2131 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		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 B9D1 B9 domain containing 1 IAGP HPO MIM:617120 ORPHA:475 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:475 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP HPO MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:115150 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:2131 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:618087 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP HPO ORPHA:475 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:612285 MIM:619111 ORPHA:1454 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP104 centrosomal protein 104 IAGP HPO MIM:616781 ORPHA:475 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO MIM:617761 ORPHA:220493 ORPHA:475 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:610188 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO MIM:614464 ORPHA:220493 ORPHA:475 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CFAP52 cilia and flagella associated protein 52 IAGP ClinVar Annotator: match by term: Oculomotor apraxia ClinVar PMID:25741868 PMID:33139725 NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		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 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM:614615 ORPHA:475 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ClinVar Annotator: match by term: Ocular motor apraxia ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:615636 ORPHA:397715 ORPHA:475 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CWF19L1 CWF19 like cell cycle control factor 1 IAGP HPO MIM:616127 ORPHA:453521 NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:29100085 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO MIM:245348 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO MIM:614388 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO ORPHA:96148 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		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 FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:230900 ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP HPO ORPHA:529665 NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		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 H4C11 H4 clustered histone 11 IAGP HPO MIM:619759 NCBI chr 6:27,824,092...27,824,480
Ensembl chr 6:27,824,092...27,824,480 		JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Oculomotor apraxia ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:475 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO MIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO MIM:619582 ORPHA:475 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP DNA:missense mutations, nonsense mutation:exon:multiple HPO
RGD		 PMID:23386033 MIM:213300 ORPHA:1454 ORPHA:220493 ORPHA:475, RGD:12911208 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:117360 MIM:206700 ORPHA:208513 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO ORPHA:475 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:135500 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO MIM:616728 ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 ORPHA:475 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:619476 ORPHA:475 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP HPO MIM:615960 ORPHA:370022 NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240094 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP HPO MIM:618273 NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:617121 ORPHA:220493 ORPHA:475 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		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 MYO9A myosin IXA IAGP HPO MIM:618198 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO ORPHA:647799 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		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 NPHP1 nephrocystin 1 IAGP HPO MIM:609583 ORPHA:220497 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NUP54 nucleoporin 54 IAGP HPO MIM:620427 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:475 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO MIM:615665 ORPHA:475 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:247815 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614867 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:95433 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO ORPHA:247262 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO ORPHA:247262 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO MIM:617767 ORPHA:475 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:247262 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO ORPHA:247262 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO ORPHA:247262 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO ORPHA:247262 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO ORPHA:247262 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP HPO MIM:615217 ORPHA:64753 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712 		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 PNKP polynucleotide kinase 3'-phosphatase IAGP HPO MIM:616267 ORPHA:459033 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		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 PSEN1 presenilin 1 IAGP HPO ORPHA:1020 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 IAGP HPO ORPHA:1020 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G RORA RAR related orphan receptor A IAGP HPO MIM:618060 NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Joubert Syndrome 7;DNA:mutations:exons: HPO
RGD		 PMID:17558409 MIM:611560 MIM:619113 ORPHA:1454 ORPHA:220497, RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Oculomotor apraxia ClinVar PMID:25741868 PMID:30755392 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SETX senataxin IAGP HPO MIM:606002 ORPHA:64753 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO ORPHA:2131 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334 		JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP HPO MIM:617595 NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461 		JBrowse link
G SORL1 sortilin related receptor 1 IAGP HPO ORPHA:1020 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP HPO ORPHA:67045 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SPR sepiapterin reductase IAGP HPO MIM:612716 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		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 STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Oculomotor apraxia ClinVar
HPO		 PMID:25741868 PMID:33024317 MIM:617757 ORPHA:475 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TCF4 transcription factor 4 IAGP ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 PMID:28492532 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:475 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:475 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:475 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO MIM:617562 MIM:617563 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO MIM:614465 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO MIM:619562 ORPHA:475 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO MIM:614970 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:220497 ORPHA:475 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:216360 MIM:610688 ORPHA:1454 ORPHA:475 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO MIM:614969 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO MIM:619185 ORPHA:475 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOMM40 translocase of outer mitochondrial membrane 40 IAGP HPO ORPHA:1020 NCBI chr19:44,891,254...44,903,689
Ensembl chr19:44,890,569...44,903,689 		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 TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:1020 ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:467166 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:467166 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 ORPHA:467166 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		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 TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 IAGP HPO MIM:617633 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 MIM:314580 ORPHA:3454 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the eye 5923
        Abnormal eye physiology 4218
          Abnormality of eye movement 1875
            Oculomotor apraxia 125
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the nervous system 29595
        Abnormal nervous system physiology 27417
          Abnormal central motor function 3088
            Apraxia 228
              Oculomotor apraxia 125
paths to the root