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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 communication
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Accession:HP:0034434 term browser browse the term
Definition:Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.
Synonyms:alt_id: HP:5200128



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Abnormal eye contact term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Abnormal nonverbal communicative behavior term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:300496 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MFF mitochondrial fission factor IAGP HPO ORPHA:485421 NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
JBrowse link
G NLGN3 neuroligin 3 IAGP HPO MIM:300425 NCBI chr  X:71,144,841...71,175,307
Ensembl chr  X:71,144,821...71,175,255
JBrowse link
G NLGN4X neuroligin 4 X-linked IAGP HPO MIM:300495 NCBI chr  X:5,890,042...6,228,867
Ensembl chr  X:5,840,637...6,228,867
JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior ClinVar PMID:25741868 PMID:26168268 PMID:28492532 PMID:30755392 PMID:32901917 More... NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO MIM:209850 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
Abnormal prosody term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP2 forkhead box P2 IAGP HPO ORPHA:209908 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:163721 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240094 ORPHA:240112 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:255210 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:255210 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:163721 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
JBrowse link
Abnormal speech pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO 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:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO ORPHA:2971 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO ORPHA:816 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:205100 ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP ClinVar Annotator: match by term: Abnormality of speech or vocalization ClinVar PMID:25741868 PMID:28492532 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
JBrowse link
G ARG1 arginase 1 IAGP HPO ORPHA:90 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:100 ORPHA:440437 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:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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 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 BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO MIM:209900 ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:1340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:569 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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 CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP HPO ORPHA:423275 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844
JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:100069 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
JBrowse link
G CLCN6 chloride voltage-gated channel 6 IAGP ClinVar Annotator: match by term: Abnormality of speech or vocalization ClinVar PMID:25741868 PMID:33217309 NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP HPO ORPHA:1947 NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G CPEB1-AS1 CPEB1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Abnormality of speech or vocalization ClinVar PMID:25741868 PMID:28492532 NCBI chr15:82,647,770...82,692,820
Ensembl chr15:82,647,770...82,692,820
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO ORPHA:156 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410
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 CUL4B cullin 4B IAGP HPO ORPHA:85293 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G DAB1 DAB adaptor protein 1 IAGP HPO ORPHA:363710 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 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 DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO MIM:127700 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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 EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO ORPHA:1955 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO ORPHA:2792 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FH fumarate hydratase IAGP HPO MIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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 FLG filaggrin IAGP HPO ORPHA:461 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:908 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125
JBrowse link
G FOXI1 forkhead box I1 IAGP HPO ORPHA:705 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734
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 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 GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Abnormality of speech or vocalization HPO
ClinVar
PMID:1864608 PMID:10079102 PMID:11903352 PMID:12595585 PMID:12791040 More... MIM:231000 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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 GPC3 glypican 3 IAGP HPO ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 IAGP HPO ORPHA:363432 NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157
JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP HPO ORPHA:324262 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:100069 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HAL histidine ammonia-lyase IAGP HPO ORPHA:2157 NCBI chr12:95,972,662...95,996,344
Ensembl chr12:95,972,662...95,996,365
JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO ORPHA:98791 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO ORPHA:98791 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
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 HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:3287 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO ORPHA:1065 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO ORPHA:705 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 ORPHA:144 ORPHA:2396 ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP DNA:snps:cds:multiple RGD PMID:7920659 RGD:6483012 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:588 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Abnormality of speech or vocalization ClinVar PMID:1864608 PMID:10079102 PMID:11903352 PMID:12595585 PMID:12791040 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MANBA mannosidase beta IAGP HPO MIM:248510 NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MAPT microtubule associated protein tau IAGP HPO ORPHA:100069 ORPHA:240085 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:1762 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:776 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP HPO MIM:618774 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:99845 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:99845 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO ORPHA:457485 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2053 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO ORPHA:568 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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 NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:2289 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485
JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764
JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO ORPHA:99845 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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 ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO ORPHA:3204 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216873 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PAX1 paired box 1 IAGP HPO ORPHA:2792 NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:1065 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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 PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280219 ORPHA:280229 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP HPO ORPHA:98810 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:1173 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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 PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 ORPHA:98810 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
JBrowse link
G PSEN1 presenilin 1 IAGP HPO ORPHA:100069 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP HPO ORPHA:2379 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491
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 RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
JBrowse link
G RNF216 ring finger protein 216 IAGP HPO ORPHA:1173 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696
JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
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 RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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 SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
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 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
JBrowse link
G SEPTIN9 septin 9 IAGP HPO ORPHA:2901 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596
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 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 SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP HPO ORPHA:705 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
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 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 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 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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 STIM1 stromal interaction molecule 1 IAGP HPO ORPHA:3204 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
JBrowse link
G STS steroid sulfatase IAGP HPO ORPHA:461 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358
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 STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP HPO ORPHA:199 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
JBrowse link
G TAT tyrosine aminotransferase IAGP HPO ORPHA:28378 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092
JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:1930 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:1727 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO ORPHA:1802 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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 TFAP2A transcription factor AP-2 alpha IAGP HPO ORPHA:1297 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 IAGP HPO ORPHA:1930 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO ORPHA:505216 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
JBrowse link
G TLR3 toll like receptor 3 IAGP HPO ORPHA:1930 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO ORPHA:100069 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP HPO ORPHA:1930 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
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 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 IAGP HPO ORPHA:33543 NCBI chr 3:36,826,819...36,945,744
Ensembl chr 3:36,826,819...36,945,057
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:100069 ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Abnormality of speech or vocalization ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Abnormality of speech or vocalization ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO ORPHA:96 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053
JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:221770 ORPHA:2770 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:411511 ORPHA:98794 ORPHA:98795 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP HPO ORPHA:1930 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
JBrowse link
G UPB1 beta-ureidopropionase 1 IAGP HPO MIM:613161 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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 VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO MIM:617710 ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
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 WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO ORPHA:3454 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
Abnormally high-pitched voice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G AR androgen receptor IAGP HPO ORPHA:90797 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO MIM:616313 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CTNND2 catenin delta 2 IAGP HPO ORPHA:281 NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:610965 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:127000 ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:261483 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125
JBrowse link
G GHR growth hormone receptor IAGP HPO MIM:262500 ORPHA:633 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GRB10 growth factor receptor bound protein 10 IAGP HPO ORPHA:96182 NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G ITPA inosine triphosphatase IAGP HPO MIM:616647 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO MIM:618681 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:617087 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO MIM:616688 ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G MTX2 metaxin 2 IAGP HPO MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:324604 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO MIM:614800 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO MIM:613800 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:112240 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO MIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP HPO MIM:613075 ORPHA:217335 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO MIM:616294 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
G SELENON selenoprotein N IAGP HPO MIM:602771 ORPHA:324604 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SEMA5A semaphorin 5A IAGP HPO ORPHA:281 NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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 STAT5B signal transducer and activator of transcription 5B IAGP HPO MIM:245590 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 ORPHA:2576 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ClinVar Annotator: match by term: High pitched voice ClinVar NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TTN titin IAGP HPO ORPHA:324604 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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 ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Abnormally low-pitched voice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CFL2 cofilin 2 IAGP HPO MIM:610687 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:163721 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
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 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 NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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 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 SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:163721 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045
JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP HPO ORPHA:199 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
Absent speech term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP HPO MIM:619735 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954
JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO MIM:618960 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
JBrowse link
G ACTL6B actin like 6B IAGP HPO MIM:618468 MIM:618470 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IAGP HPO MIM:618862 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO MIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G ADSL adenylosuccinate lyase IAGP HPO ORPHA:46 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP HPO MIM:616577 ORPHA:457351 NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433
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 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 IAGP HPO MIM:260600 NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456
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 ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP DNA:missense mutation;exon:2350C>T(p.H784Y)(human) HPO
RGD
PMID:18478038 MIM:219150 MIM:616586, RGD:13439711 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP HPO MIM:613661 NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:619031 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO MIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931
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 ARFGEF1 ARF guanine nucleotide exchange factor 1 IAGP HPO MIM:619964 NCBI chr 8:67,173,511...67,343,781
Ensembl chr 8:67,173,511...67,343,781
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Absent speech development ClinVar
HPO
PMID:25741868 PMID:28492532 ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Absent speech development ClinVar
HPO
PMID:24674232 PMID:25741868 ORPHA:1465 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G ARL13B ARF like GTPase 13B IAGP HPO MIM:612291 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP HPO MIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405
JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP ClinVar Annotator: match by term: Absent speech development HPO
ClinVar
PMID:25741868 PMID:32581362 MIM:615485 ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
JBrowse link
G ATG7 autophagy related 7 IAGP HPO MIM:619422 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
JBrowse link
G ATN1 atrophin 1 IAGP HPO MIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP HPO ORPHA:411515 NCBI chr15:25,672,237...25,865,088
Ensembl chr15:25,677,273...25,865,184
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:619605 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO MIM:620358 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
JBrowse link
G ATP6V0C ATPase H+ transporting V0 subunit c IAGP HPO MIM:620465 NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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 ATP9A ATPase phospholipid transporting 9A (putative) IAGP HPO MIM:620242 NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390
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 BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ClinVar Annotator: match by term: Nonverbal ClinVar PMID:25741868 PMID:30054298 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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 BMP4 bone morphogenetic protein 4 IAGP HPO MIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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 C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO MIM:618497 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP HPO MIM:618285 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262
JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP HPO MIM:620114 NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO MIM:620149 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 IAGP HPO MIM:618501 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP HPO MIM:617798 MIM:618095 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:477774 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 MIM:300749 ORPHA:163937 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554
JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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 CCND2 cyclin D2 IAGP HPO MIM:615938 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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 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 CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP HPO MIM:616579 NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
JBrowse link
G CHKA choline kinase alpha IAGP HPO MIM:620023 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444
JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO MIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738
JBrowse link
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 CLCN4 chloride voltage-gated channel 4 IAGP HPO MIM:300114 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660
JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP HPO ORPHA:324410 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657
JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO MIM:615803 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:619835 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
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 CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP HPO MIM:301008 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP HPO MIM:616418 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 ORPHA:163681 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
JBrowse link
G COG3 component of oligomeric golgi complex 3 IAGP HPO MIM:620546 NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO MIM:613489 ORPHA:263501 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
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 COPB1 COPI coat complex subunit beta 1 IAGP HPO MIM:619255 NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO MIM:608393 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889
JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:617976 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CRBN cereblon IAGP HPO MIM:607417 NCBI chr 3:3,149,633...3,179,717
Ensembl chr 3:3,144,628...3,179,727
JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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 CSNK2A1 casein kinase 2 alpha 1 IAGP HPO MIM:617062 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
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 CTNNA2 catenin alpha 2 IAGP HPO MIM:618174 NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861
JBrowse link
G CUL4B cullin 4B IAGP HPO MIM:300354 ORPHA:85293 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074
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 DAG1 dystroglycan 1 IAGP HPO MIM:616538 ORPHA:370997 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO MIM:618910 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293
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 DCPS decapping enzyme, scavenger IAGP HPO MIM:616459 NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO MIM:617171 ORPHA:468620 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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 DENND5A DENN domain containing 5A IAGP HPO MIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959
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 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 DNM1 dynamin 1 IAGP HPO MIM:616346 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:330050 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G DOCK3 dedicator of cytokinesis 3 IAGP HPO MIM:618292 NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198
JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP HPO MIM:615859 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
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 DOLK dolichol kinase IAGP HPO ORPHA:91131 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603
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 DPF2 double PHD fingers 2 IAGP HPO ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
JBrowse link
G DPH5 diphthamide biosynthesis 5 IAGP HPO MIM:620070 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088
JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP HPO ORPHA:1675 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO MIM:619435 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
JBrowse link
G DYM dymeclin IAGP HPO MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:300960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP HPO MIM:616393 MIM:616409 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO MIM:610253 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:618877 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
JBrowse link
G EIF3F eukaryotic translation initiation factor 3 subunit F IAGP HPO MIM:618295 NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862
JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO MIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
JBrowse link
G ELP2 elongator acetyltransferase complex subunit 2 IAGP HPO MIM:617270 NCBI chr18:36,129,899...36,180,557
Ensembl chr18:36,129,444...36,180,557
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO MIM:611225 ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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 EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:466722 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
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 FGF13 fibroblast growth factor 13 IAGP HPO MIM:301095 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP 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 FKRP fukutin related protein IAGP HPO MIM:236670 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP HPO MIM:236670 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FOXG1 forkhead box G1 IAGP HPO MIM:613454 ORPHA:261144 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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 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 FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592
JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO MIM:616819 ORPHA:466688 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142
JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP HPO MIM:300983 NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523
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 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO MIM:617903 MIM:617904 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935
JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP HPO MIM:617829 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO MIM:618396 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GAMT guanidinoacetate N-methyltransferase IAGP HPO MIM:612736 NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
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 GCDH glutaryl-CoA dehydrogenase IAGP HPO MIM:231670 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO MIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999
JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO MIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436
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 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 GMPPB GDP-mannose pyrophosphorylase B IAGP HPO MIM:615350 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GNAI1 G protein subunit alpha i1 IAGP HPO MIM:619854 NCBI chr 7:80,134,831...80,226,181
Ensembl chr 7:79,768,028...80,226,181
JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO MIM:615473 MIM:617493 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
JBrowse link
G GNB5 G protein subunit beta 5 IAGP HPO MIM:617182 ORPHA:542306 NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392
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 GOT2 glutamic-oxaloacetic transaminase 2 IAGP HPO MIM:618721 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 IAGP HPO MIM:616281 NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 IAGP HPO MIM:619927 MIM:619931 NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
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 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 IAGP HPO MIM:617864 NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090
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 MIM:617820 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Nonverbal ClinVar
HPO
PMID:25741868 MIM:616139 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP HPO MIM:617162 NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931
JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP HPO MIM:614831 ORPHA:324262 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G GSX2 GS homeobox 2 IAGP HPO MIM:618646 NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498
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 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO MIM:615871 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO MIM:619797 NCBI chr 2:239,048,168...239,401,649
NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:617268 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684
JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO MIM:613926 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 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
JBrowse link
G HID1 HID1 domain containing IAGP HPO MIM:619983 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP HPO MIM:616881 NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943
JBrowse link
G HIVEP2 HIVEP zinc finger 2 IAGP HPO MIM:616977 NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698
JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP HPO MIM:620688 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO MIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP HPO MIM:300986 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO MIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP HPO MIM:617391 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO ORPHA:391428 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G HTT huntingtin IAGP HPO MIM:617435 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752
JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP HPO MIM:617093 ORPHA:541423 NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854
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 INTS1 integrator complex subunit 1 IAGP HPO MIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389
JBrowse link
G INTS8 integrator complex subunit 8 IAGP HPO MIM:618572 NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746
JBrowse link
G IQSEC1 IQ motif and Sec7 domain ArfGEF 1 IAGP HPO MIM:618687 NCBI chr 3:12,897,043...13,283,257
Ensembl chr 3:12,897,043...13,283,281
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:397933 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G IREB2 iron responsive element binding protein 2 IAGP HPO MIM:618451 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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 ISCA2 iron-sulfur cluster assembly 2 IAGP HPO MIM:616370 NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO MIM:619147 ORPHA:3240 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO MIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP HPO MIM:616366 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP HPO MIM:616056 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297
JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 IAGP HPO MIM:619913 NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Absent speech development ClinVar PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 IAGP HPO MIM:617601 NCBI chr 6:72,622,064...73,198,853
Ensembl chr 6:72,621,792...73,198,853
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO MIM:614959 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 IAGP HPO MIM:611726 NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067
JBrowse link
G KDM5A lysine demethylase 5A IAGP HPO MIM:620820 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320
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 KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
G KIF1A kinesin family member 1A IAGP HPO MIM:614255 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KIF5C kinesin family member 5C IAGP HPO MIM:615282 NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
JBrowse link
G KLHL15 kelch like family member 15 IAGP HPO MIM:300982 NCBI chr  X:23,983,720...24,027,186
Ensembl chr  X:23,983,716...24,027,186
JBrowse link
G KMT5B lysine methyltransferase 5B IAGP HPO MIM:617788 NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor IAGP HPO MIM:309585 NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810
JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 IAGP HPO MIM:618103 NCBI chr15:77,613,027...77,820,900
Ensembl chr15:77,613,027...77,820,900
JBrowse link
G LINS1 lines homolog 1 IAGP HPO MIM:614340 NCBI chr15:100,566,924...100,602,184
Ensembl chr15:100,559,369...100,603,230
JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP HPO MIM:617668 NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724
JBrowse link
G LMAN2L lectin, mannose binding 2 like IAGP HPO MIM:617863 NCBI chr 2:96,705,929...96,740,064
Ensembl chr 2:96,705,929...96,740,064
JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
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 LOC126860802 BRD4-independent group 4 enhancer GRCh37_chr10:294268-295467 IAGP ClinVar Annotator: match by term: Absent speech development ClinVar PMID:25741868 NCBI chr10:248,328...249,527 JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
JBrowse link
G MAB21L1 mab-21 like 1 IAGP HPO MIM:618479 NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764
JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO MIM:618325 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:615547 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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 MBOAT7 membrane bound O-acyltransferase domain containing 7 IAGP HPO MIM:617188 NCBI chr19:54,173,415...54,189,580
Ensembl chr19:54,173,412...54,189,882
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO MIM:252650 ORPHA:578 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 MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Absent speech development HPO
ClinVar
PMID:10767337 PMID:10854091 PMID:11245712 PMID:11524741 PMID:12075485 More... MIM:300055 MIM:300260 ORPHA:778 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:300895 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MED23 mediator complex subunit 23 IAGP HPO MIM:614249 NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242
JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO MIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257
JBrowse link
G MFF mitochondrial fission factor IAGP HPO MIM:617086 NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid IAGP HPO MIM:616486 NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO MIM:619527 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO MIM:609180 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
JBrowse link
G MRPL12 mitochondrial ribosomal protein L12 IAGP HPO MIM:618951 NCBI chr17:81,703,367...81,707,517
Ensembl chr17:81,703,367...81,707,517
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 MSL3 MSL complex subunit 3 IAGP HPO MIM:301032 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772
JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP HPO MIM:617393 NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147
JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:615419 ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 IAGP HPO MIM:617983 NCBI chr12:6,494,102...6,531,955
Ensembl chr12:6,493,356...6,531,955
JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO MIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO MIM:300912 ORPHA:85277 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472
JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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 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 NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP HPO ORPHA:401777 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO MIM:117550 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 IAGP HPO MIM:620001 NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO MIM:611091 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G NTNG2 netrin G2 IAGP HPO MIM:618718 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP HPO MIM:617830 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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 OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:300804 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO MIM:300486 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913
JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO MIM:615009 ORPHA:329224 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:618437 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523
JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO MIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO MIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO MIM:614207 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 MIM:615716 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434
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 PIGF phosphatidylinositol glycan anchor biosynthesis class F IAGP HPO MIM:619356 NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO MIM:616917 ORPHA:488635 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO MIM:614080 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 MIM:617599 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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 PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO MIM:239300 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 MIM:616025 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
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 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 PLP1 proteolipid protein 1 IAGP HPO ORPHA:280210 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
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 PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO MIM:614932 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 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 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 POLRMT RNA polymerase mitochondrial IAGP HPO MIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:236670 MIM:613155 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 MIM:236670 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G POT1 protection of telomeres 1 IAGP HPO MIM:620368 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PPFIBP1 PPFIA binding protein 1 IAGP HPO MIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564
JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO MIM:616362 ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO MIM:616355 ORPHA:457279 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO MIM:617711 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO MIM:301835 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
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 PSMB1 proteasome 20S subunit beta 1 IAGP HPO MIM:620038 NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,120...170,553,307
JBrowse link
G PSMC1 proteasome 26S subunit, ATPase 1 IAGP HPO MIM:620071 NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429
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 PURA purine rich element binding protein A IAGP HPO MIM:616158 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO MIM:616420 ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
JBrowse link
G RAB11B RAB11B, member RAS oncogene family IAGP HPO MIM:617807 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO MIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:614225 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RAB5IF RAB5 interacting factor IAGP HPO MIM:616994 NCBI chr20:36,605,779...36,612,557
Ensembl chr20:36,605,779...36,612,557
JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO MIM:617751 ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G RALA RAS like proto-oncogene A IAGP HPO MIM:619311 NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP HPO MIM:618797 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
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 RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509
JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP HPO MIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158
JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903
JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO MIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:459070 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
G SATB1 SATB homeobox 1 IAGP HPO MIM:619229 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO MIM:619317 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO MIM:617938 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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 SETBP1 SET binding protein 1 IAGP HPO MIM:616078 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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 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 SHROOM4 shroom family member 4 IAGP HPO ORPHA:85288 NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,586,796...50,814,302
JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO MIM:616341 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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 SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP HPO MIM:619080 MIM:619083 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO MIM:615905 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO MIM:617105 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO MIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
JBrowse link
G SLC25A12 solute carrier family 25 member 12 IAGP HPO MIM:612949 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO MIM:608885 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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 MIM:300896 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 SLC38A3 solute carrier family 38 member 3 IAGP HPO MIM:619881 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282
JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP HPO MIM:616269 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP HPO ORPHA:238455 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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 SLITRK2 SLIT and NTRK like family member 2 IAGP HPO MIM:301107 NCBI chr  X:145,817,829...145,829,856
Ensembl chr  X:145,817,829...145,829,856
JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO MIM:601358 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO MIM:614609 ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCC2 SWI/SNF related BAF chromatin remodeling complex subunit C2 IAGP HPO MIM:618362 ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
JBrowse link
G SMARCD1 SWI/SNF related BAF chromatin remodeling complex subunit D1 IAGP HPO ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO MIM:616938 ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO MIM:105830 ORPHA:177907 ORPHA:411515 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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 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 SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO MIM:619312 ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO MIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A IAGP HPO MIM:620416 MIM:620417 NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240
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 SRPK3 SRSF protein kinase 3 IAGP HPO MIM:301134 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732
JBrowse link
G ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 IAGP HPO MIM:609056 NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
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 MIM:612703 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 STRADA STE20 related adaptor alpha IAGP HPO MIM:611087 ORPHA:500533 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO MIM:612164 ORPHA:599373 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G SUOX sulfite oxidase IAGP HPO MIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641
JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP HPO MIM:619480 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Absent speech ClinVar
HPO
PMID:25741868 ORPHA:544254 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
JBrowse link
G SYNGAP1-AS1 SYNGAP1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Absent speech ClinVar PMID:25741868 NCBI chr 6:33,437,363...33,454,405
Ensembl chr 6:33,436,829...33,454,470
JBrowse link
G SYT1 synaptotagmin 1 IAGP HPO MIM:618218 ORPHA:522077 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP HPO MIM:615476 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247
JBrowse link
G TAF2 TATA-box binding protein associated factor 2 IAGP HPO ORPHA:397951 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO MIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
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 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 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:487825 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G TCF4 transcription factor 4 IAGP HPO MIM:610954 ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO MIM:616654 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO MIM:616954 ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410
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 TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO MIM:617698 ORPHA:505216 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
JBrowse link
G TKT transketolase IAGP HPO MIM:617044 ORPHA:488618 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO MIM:617964 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
JBrowse link
G TMEM147 transmembrane protein 147 IAGP ClinVar Annotator: match by term: Absent speech development ClinVar
HPO
PMID:25741868 PMID:36044892 MIM:620075 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526
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 TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Nonverbal
ClinVar Annotator: match by term: Absent speech development
ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO MIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
JBrowse link
G TNPO2 transportin 2 IAGP HPO MIM:619556 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011
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 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP HPO MIM:620027 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO ORPHA:369840 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L IAGP HPO