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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:Apraxia
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Accession:HP:0002186 term browser browse the term
Definition:A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Synonyms:related_synonym: Apraxias
 xref: SNOMEDCT_US:68345001;   SNOMEDCT_US:6950007;   UMLS:C0003635


show annotations for term's descendants           Sort by:
Apraxia term browser
Symbol Object Name 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 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 ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		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 APOE apolipoprotein E IAGP HPO MIM:606889 MIM:607822 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		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 ARPC4 actin related protein 2/3 complex subunit 4 IAGP HPO MIM:620141 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:602481 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		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 C9orf72 C9orf72-SMCR8 complex subunit IAGP HPO MIM:105550 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:3095 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:275872 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:100070 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:221820 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin IAGP HPO MIM:254780 NCBI chr 6:145,383,353...145,736,023
Ensembl chr 6:145,382,535...145,736,023 		JBrowse link
G FOXG1 forkhead box G1 IAGP HPO MIM:613454 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:275872 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO ORPHA:3095 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP HPO MIM:617810 NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		JBrowse link
G GRN granulin precursor IAGP HPO MIM:607485 ORPHA:100070 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		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 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 INS insulin IAGP HPO ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:100070 ORPHA:240103 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:300055 ORPHA:3095 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G 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 NTNG1 netrin G1 IAGP HPO ORPHA:3095 NCBI chr 1:107,140,088...107,484,923
Ensembl chr 1:107,140,007...107,484,923 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:137440 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO MIM:607822 ORPHA:100070 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 MIM:606889 ORPHA:1020 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:71277 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:3095 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		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 SNX14 sorting nexin 14 IAGP HPO MIM:616354 ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		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 SPG21 SPG21 abhydrolase domain containing, maspardin IAGP HPO MIM:248900 ORPHA:101001 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:275872 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TARDBP TAR DNA binding protein IAGP HPO ORPHA:275872 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:275872 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:607136 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO ORPHA:100070 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TNR tenascin R IAGP HPO MIM:619653 NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595 		JBrowse link
G 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 TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO MIM:618193 ORPHA:100070 ORPHA:1020 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:192315 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		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 TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO ORPHA:238446 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO MIM:616863 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:100070 ORPHA:275872 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO MIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
Eyelid apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO MIM:612953 ORPHA:199351 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO MIM:615530 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
Gait apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:312750 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		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 YME1L1 YME1 like 1 ATPase IAGP HPO MIM:617302 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,088...27,155,266 		JBrowse link
Hand apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:3095 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO ORPHA:3095 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:3095 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G NTNG1 netrin G1 IAGP HPO ORPHA:3095 NCBI chr 1:107,140,088...107,484,923
Ensembl chr 1:107,140,007...107,484,923 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280229 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:3095 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
Limb apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240103 ORPHA:240112 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:778 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
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
Oromotor apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO ORPHA:98889 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO MIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP HPO ORPHA:300536 NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO MIM:602081 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:98889 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:98889 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G 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 VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Speech apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD1 chromodomain helicase DNA binding protein 1 IAGP HPO MIM:617682 ORPHA:529965 NCBI chr 5:98,853,985...98,929,007
Ensembl chr 5:98,853,985...98,929,007 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP HPO MIM:618205 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO ORPHA:79244 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G DMPK DM1 protein kinase IAGP HPO ORPHA:589821 NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552 		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 FOXP1 forkhead box P1 IAGP HPO MIM:613670 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:209908 ORPHA:251061 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G FRRS1L ferric chelate reductase 1 like IAGP HPO ORPHA:725 NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249 		JBrowse link
G GALK1 galactokinase 1 IAGP HPO ORPHA:79237 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO ORPHA:79239 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO MIM:245570 ORPHA:163721 ORPHA:725 ORPHA:98818 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KDM6B lysine demethylase 6B IAGP HPO MIM:618505 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240112 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MED13 mediator complex subunit 13 IAGP HPO MIM:618009 NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Speech apraxia ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO MIM:615009 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP ClinVar Annotator: match by term: Speech apraxia ClinVar PMID:25741868 PMID:26077850 PMID:27148570 PMID:31782611 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP HPO MIM:619352 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552 		JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta IAGP HPO MIM:619680 NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:605309 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:314655 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:1713 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RNF135 ring finger protein 135 IAGP HPO ORPHA:137634 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP HPO ORPHA:415 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SPART spartin IAGP HPO ORPHA:101000 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO MIM:300643 ORPHA:163721 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		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 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 USP7 ubiquitin specific peptidase 7 IAGP HPO MIM:616863 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of the nervous system 29414
        Abnormal nervous system physiology 27277
          Abnormal central motor function 3059
            Apraxia 228
              Eyelid apraxia 5
              Gait apraxia 4
              Hand apraxia 6
              Limb apraxia 2
              Oculomotor apraxia 125
              Oromotor apraxia 28
              Speech apraxia 34
paths to the root