Term: | Abnormal communication |
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Accession: | HP:0034434
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browse the term
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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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ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
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IAGP |
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HPO |
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MIM:117360 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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LOC126862264 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 |
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IAGP |
ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11528510 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16627024 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20301405 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23164758 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:29393966 PMID:30171907 PMID:31088470 PMID:33223529 More...
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NCBI chr16:3,243,322...3,244,521
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MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
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HPO |
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MIM:300496 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11528510 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16627024 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20301405 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23164758 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:29393966 PMID:30171907 PMID:31088470 PMID:33223529 More...
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NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MFF |
mitochondrial fission factor |
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IAGP |
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HPO |
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ORPHA:485421 |
NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
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NLGN3 |
neuroligin 3 |
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IAGP |
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HPO |
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MIM:300425 |
NCBI chr X:71,144,841...71,175,307
Ensembl chr X:71,144,821...71,175,255
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NLGN4X |
neuroligin 4 X-linked |
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IAGP |
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HPO |
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MIM:300495 |
NCBI chr X:5,890,042...6,228,867
Ensembl chr X:5,840,637...6,228,867
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PPP2R1A |
protein phosphatase 2 scaffold subunit Aalpha |
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IAGP |
ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior |
ClinVar |
PMID:25741868 PMID:26168268 PMID:28492532 PMID:30755392 PMID:32901917 PMID:33106617 More...
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NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
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QARS1 |
glutaminyl-tRNA synthetase 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormal nonverbal communicative behavior |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
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NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
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SNRPN |
small nuclear ribonucleoprotein polypeptide N |
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IAGP |
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HPO |
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MIM:209850 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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FOXP2 |
forkhead box P2 |
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IAGP |
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HPO |
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ORPHA:209908 |
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
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GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
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IAGP |
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HPO |
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ORPHA:163721 |
NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
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MAPT |
microtubule associated protein tau |
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IAGP |
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HPO |
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ORPHA:240094 ORPHA:240112 |
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
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MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
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MT-ND3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
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MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TK |
mitochondrially encoded tRNA-Lys (AAA/G) |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
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MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1 |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TV |
mitochondrially encoded tRNA-Val (GUN) |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
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MT-TW |
mitochondrially encoded tRNA-Trp (UGA/G) |
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IAGP |
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HPO |
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ORPHA:255210 |
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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SRPX2 |
sushi repeat containing protein X-linked 2 |
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IAGP |
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HPO |
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ORPHA:163721 |
NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788
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ABCB7 |
ATP binding cassette subfamily B member 7 |
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IAGP |
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HPO |
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ORPHA:2802 |
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
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ABCD1 |
ATP binding cassette subfamily D member 1 |
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IAGP |
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HPO |
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ORPHA:139396 |
NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755
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ACOX1 |
acyl-CoA oxidase 1 |
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IAGP |
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HPO |
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ORPHA:2971 |
NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
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ADAR |
adenosine deaminase RNA specific |
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IAGP |
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HPO |
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ORPHA:225154 |
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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ORPHA:404448 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AGA |
aspartylglucosaminidase |
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IAGP |
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HPO |
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ORPHA:93 |
NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDH3A2 |
aldehyde dehydrogenase 3 family member A2 |
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IAGP |
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HPO |
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ORPHA:816 |
NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
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ALS2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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IAGP |
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HPO |
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MIM:205100 ORPHA:300605 |
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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AP3B2 |
adaptor related protein complex 3 subunit beta 2 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of speech or vocalization |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
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ARG1 |
arginase 1 |
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IAGP |
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HPO |
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ORPHA:90 |
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
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ARL6 |
ARF like GTPase 6 |
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IAGP |
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HPO |
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MIM:209900 ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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ASXL3 |
ASXL transcriptional regulator 3 |
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IAGP |
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HPO |
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ORPHA:352577 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
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ATM |
ATM serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:100 ORPHA:440437 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:569 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BBIP1 |
BBSome interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
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BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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MIM:209900 ORPHA:110 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BBS10 |
Bardet-Biedl syndrome 10 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
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BBS12 |
Bardet-Biedl syndrome 12 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
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BBS2 |
Bardet-Biedl syndrome 2 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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BBS4 |
Bardet-Biedl syndrome 4 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
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BBS5 |
Bardet-Biedl syndrome 5 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
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BBS7 |
Bardet-Biedl syndrome 7 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
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BBS9 |
Bardet-Biedl syndrome 9 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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ORPHA:568 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:1340 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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IAGP |
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HPO |
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ORPHA:569 |
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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CASZ1 |
castor zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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CCDC28B |
coiled-coil domain containing 28B |
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IAGP |
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HPO |
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MIM:209900 |
NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
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CCDC88C |
coiled-coil domain containing 88C |
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IAGP |
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HPO |
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ORPHA:423275 |
NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844
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CEP19 |
centrosomal protein 19 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CHMP2B |
charged multivesicular body protein 2B |
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IAGP |
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HPO |
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ORPHA:100069 |
NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
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CLCN6 |
chloride voltage-gated channel 6 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of speech or vocalization |
ClinVar |
PMID:25741868 PMID:33217309 |
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NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079
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CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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CLN8 |
CLN8 transmembrane ER and ERGIC protein |
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IAGP |
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HPO |
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ORPHA:1947 |
NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
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CPEB1-AS1 |
CPEB1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of speech or vocalization |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:82,647,770...82,692,820
Ensembl chr15:82,647,770...82,692,820
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CPT1A |
carnitine palmitoyltransferase 1A |
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IAGP |
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HPO |
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ORPHA:156 |
NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410
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CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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CUL4B |
cullin 4B |
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IAGP |
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HPO |
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ORPHA:85293 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
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CXCR4 |
C-X-C motif chemokine receptor 4 |
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IAGP |
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HPO |
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ORPHA:51636 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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DAB1 |
DAB adaptor protein 1 |
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IAGP |
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HPO |
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ORPHA:363710 |
NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734
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DARS2 |
aspartyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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ORPHA:137898 |
NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
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DDOST |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit |
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IAGP |
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HPO |
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ORPHA:300536 |
NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544
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G |
DEAF1 |
DEAF1 transcription factor |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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G |
DNAAF4 |
dynein axonemal assembly factor 4 |
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IAGP |
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HPO |
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MIM:127700 |
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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G |
DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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G |
DPYSL5 |
dihydropyrimidinase like 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
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G |
EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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G |
ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
ELOVL4 |
ELOVL fatty acid elongase 4 |
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IAGP |
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HPO |
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ORPHA:1955 |
NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
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G |
EPCAM |
epithelial cell adhesion molecule |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
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IAGP |
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HPO |
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ORPHA:2792 |
NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:2396 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FH |
fumarate hydratase |
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IAGP |
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HPO |
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MIM:606812 |
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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G |
FKRP |
fukutin related protein |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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G |
FKTN |
fukutin |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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G |
FLG |
filaggrin |
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IAGP |
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HPO |
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ORPHA:461 |
NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
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G |
FLII |
FLII actin remodeling protein |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
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G |
FMR1 |
fragile X messenger ribonucleoprotein 1 |
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IAGP |
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HPO |
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ORPHA:908 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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G |
FOXI1 |
forkhead box I1 |
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IAGP |
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HPO |
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ORPHA:705 |
NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734
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G |
FOXP2 |
forkhead box P2 |
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IAGP |
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HPO |
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ORPHA:209908 ORPHA:251061 |
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
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G |
FUS |
FUS RNA binding protein |
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IAGP |
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HPO |
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ORPHA:300605 |
NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963
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G |
GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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G |
GATA2 |
GATA binding protein 2 |
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IAGP |
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HPO |
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ORPHA:228423 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of speech or vocalization |
HPO ClinVar |
PMID:1864608 PMID:10079102 PMID:11903352 PMID:12595585 PMID:12791040 PMID:15146461 PMID:15967693 PMID:16293621 PMID:18160183 PMID:20301446 PMID:20947659 PMID:21831682 PMID:22227325 PMID:22451204 PMID:22623374 PMID:23225227 PMID:24022302 PMID:24033266 PMID:25741868 PMID:26000814 PMID:26117366 PMID:26296077 PMID:27153395 PMID:27312774 PMID:28492532 PMID:29980418 PMID:31010158 More...
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MIM:231000 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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ORPHA:968 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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G |
GPC3 |
glypican 3 |
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IAGP |
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HPO |
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ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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G |
GPC4 |
glypican 4 |
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IAGP |
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HPO |
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ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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G |
GRID2 |
glutamate ionotropic receptor delta type subunit 2 |
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IAGP |
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HPO |
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ORPHA:363432 |
NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157
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G |
GRM1 |
glutamate metabotropic receptor 1 |
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IAGP |
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HPO |
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ORPHA:324262 |
NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
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G |
GRN |
granulin precursor |
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IAGP |
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HPO |
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ORPHA:100069 |
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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G |
GTF2I |
general transcription factor IIi |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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G |
GTF2IRD1 |
GTF2I repeat domain containing 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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G |
GTF2IRD2 |
GTF2I repeat domain containing 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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G |
HAL |
histidine ammonia-lyase |
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IAGP |
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HPO |
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ORPHA:2157 |
NCBI chr12:95,972,662...95,996,344
Ensembl chr12:95,972,662...95,996,365
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G |
HBA1 |
hemoglobin subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:98791 |
NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
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G |
HBA2 |
hemoglobin subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:98791 |
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
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G |
HDAC8 |
histone deacetylase 8 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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G |
HLA-B |
major histocompatibility complex, class I, B |
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IAGP |
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HPO |
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ORPHA:3287 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1606 ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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G |
IFT27 |
intraflagellar transport 27 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
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G |
IFT74 |
intraflagellar transport 74 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
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G |
IL12B |
interleukin 12B |
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IAGP |
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HPO |
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ORPHA:3287 |
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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G |
IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
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IAGP |
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HPO |
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ORPHA:1065 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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G |
KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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IAGP |
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HPO |
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ORPHA:705 |
NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:1340 ORPHA:144 ORPHA:2396 ORPHA:648 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
L1CAM |
L1 cell adhesion molecule |
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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
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G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
|
HPO |
|
ORPHA:588 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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G |
LIMK1 |
LIM domain kinase 1 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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G |
LOC106627981 |
GBA recombination region |
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IAGP |
ClinVar Annotator: match by term: Abnormality of speech or vocalization |
ClinVar |
PMID:1864608 PMID:10079102 PMID:11903352 PMID:12595585 PMID:12791040 PMID:15146461 PMID:15967693 PMID:16293621 PMID:18160183 PMID:20301446 PMID:20947659 PMID:21831682 PMID:22227325 PMID:22451204 PMID:22623374 PMID:23225227 PMID:24022302 PMID:24033266 PMID:25741868 PMID:26000814 PMID:26117366 PMID:26296077 PMID:27153395 PMID:27312774 PMID:28492532 PMID:29980418 PMID:31010158 More...
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NCBI chr 1:155,233,639...155,240,092
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G |
LPIN1 |
lipin 1 |
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IAGP |
|
HPO |
|
ORPHA:99845 |
NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
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G |
LUZP1 |
leucine zipper protein 1 |
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IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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G |
LZTFL1 |
leucine zipper transcription factor like 1 |
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IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
MANBA |
mannosidase beta |
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IAGP |
|
HPO |
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MIM:248510 |
NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994
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G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
|
HPO |
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ORPHA:1340 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
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IAGP |
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HPO |
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ORPHA:1340 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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G |
MAPT |
microtubule associated protein tau |
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IAGP |
|
HPO |
|
ORPHA:100069 ORPHA:240085 ORPHA:240112 |
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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G |
MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
|
HPO |
|
ORPHA:1762 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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G |
MED12 |
mediator complex subunit 12 |
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IAGP |
|
HPO |
|
ORPHA:776 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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G |
METTL27 |
methyltransferase like 27 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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G |
MKKS |
MKKS centrosomal shuttling protein |
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IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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G |
MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
|
HPO |
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ORPHA:110 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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G |
MLH1 |
mutL homolog 1 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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G |
MLX |
MAX dimerization protein MLX |
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IAGP |
|
HPO |
|
ORPHA:3287 |
NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
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G |
MMACHC |
metabolism of cobalamin associated C |
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IAGP |
|
HPO |
|
ORPHA:79282 |
NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
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G |
MMP23B |
matrix metallopeptidase 23B |
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IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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G |
MN1 |
MN1 proto-oncogene, transcriptional regulator |
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IAGP |
|
HPO |
|
MIM:618774 |
NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756
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G |
MORC2 |
MORC family CW-type zinc finger 2 |
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IAGP |
|
HPO |
|
ORPHA:466768 |
NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
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G |
MRAS |
muscle RAS oncogene homolog |
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IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
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G |
MSH2 |
mutS homolog 2 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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G |
MSH6 |
mutS homolog 6 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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G |
MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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IAGP |
|
HPO |
|
ORPHA:225154 |
NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
|
HPO |
|
ORPHA:99845 |
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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G |
MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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IAGP |
|
HPO |
|
ORPHA:99845 |
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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G |
MTOR |
mechanistic target of rapamycin kinase |
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IAGP |
|
HPO |
|
ORPHA:457485 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
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IAGP |
|
HPO |
|
ORPHA:2169 |
NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
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G |
MUTYH |
mutY DNA glycosylase |
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IAGP |
|
HPO |
|
ORPHA:440437 |
NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
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G |
MYH3 |
myosin heavy chain 3 |
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IAGP |
|
HPO |
|
ORPHA:2053 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
|
HPO |
|
ORPHA:568 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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G |
NALCN |
sodium leak channel, non-selective |
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IAGP |
|
HPO |
|
ORPHA:2053 |
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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G |
NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
|
HPO |
|
ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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G |
NEU1 |
neuraminidase 1 |
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IAGP |
|
HPO |
|
ORPHA:812 |
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
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NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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NIPBL |
NIPBL cohesin loading factor |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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NOTCH2NLC |
notch 2 N-terminal like C |
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IAGP |
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HPO |
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ORPHA:2289 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
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NPHP1 |
nephrocystin 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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NUP54 |
nucleoporin 54 |
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IAGP |
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HPO |
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ORPHA:225154 |
NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485
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NUP62 |
nucleoporin 62 |
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IAGP |
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HPO |
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ORPHA:225154 |
NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764
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OBSCN |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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IAGP |
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HPO |
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ORPHA:99845 |
NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876
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OCA2 |
OCA2 melanosomal transmembrane protein |
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IAGP |
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HPO |
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ORPHA:98794 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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OPHN1 |
oligophrenin 1 |
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IAGP |
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HPO |
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ORPHA:137831 |
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
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IAGP |
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HPO |
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ORPHA:3204 |
NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
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PANK2 |
pantothenate kinase 2 |
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IAGP |
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HPO |
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ORPHA:216873 |
NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
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G |
PAX1 |
paired box 1 |
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IAGP |
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HPO |
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ORPHA:2792 |
NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
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PAX6 |
paired box 6 |
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IAGP |
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HPO |
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ORPHA:1065 |
NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PDPN |
podoplanin |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:144 ORPHA:2495 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:3163 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PLP1 |
proteolipid protein 1 |
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IAGP |
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HPO |
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ORPHA:280219 ORPHA:280229 |
NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619
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PMS1 |
PMS1 homolog 1, mismatch repair system component |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
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PMS2 |
PMS1 homolog 2, mismatch repair system component |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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PNKD |
PNKD metallo-beta-lactamase domain containing |
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IAGP |
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HPO |
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ORPHA:98810 |
NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793
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PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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ORPHA:1173 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POLD1 |
DNA polymerase delta 1, catalytic subunit |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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G |
POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:588 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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G |
PRDM16 |
PR/SET domain 16 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ |
protein kinase C zeta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PRRT2 |
proline rich transmembrane protein 2 |
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IAGP |
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HPO |
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ORPHA:569 ORPHA:98810 |
NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
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PSEN1 |
presenilin 1 |
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IAGP |
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HPO |
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ORPHA:100069 |
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:109 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
RAB39B |
RAB39B, member RAS oncogene family |
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IAGP |
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HPO |
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ORPHA:2379 |
NCBI chr X:155,258,235...155,264,491
Ensembl chr X:155,258,235...155,264,491
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G |
RAD21 |
RAD21 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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G |
RASA2 |
RAS p21 protein activator 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
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G |
RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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G |
RFC2 |
replication factor C subunit 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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G |
RIT1 |
Ras like without CAAX 1 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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G |
RNF216 |
ring finger protein 216 |
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IAGP |
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HPO |
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ORPHA:1173 |
NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696
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G |
RPS20 |
ribosomal protein S20 |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
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G |
RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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G |
RRAS |
RAS related |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
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G |
RRAS2 |
RAS related 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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G |
SAMD9L |
sterile alpha motif domain containing 9 like |
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IAGP |
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HPO |
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ORPHA:2585 |
NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
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G |
SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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G |
SCLT1 |
sodium channel and clathrin linker 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
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HPO |
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ORPHA:569 |
NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
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G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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G |
SEMA4A |
semaphorin 4A |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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G |
SEPTIN9 |
septin 9 |
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IAGP |
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HPO |
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ORPHA:2901 |
NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596
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G |
SIGMAR1 |
sigma non-opioid intracellular receptor 1 |
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IAGP |
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HPO |
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ORPHA:300605 |
NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
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G |
SIL1 |
SIL1 nucleotide exchange factor |
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IAGP |
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HPO |
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ORPHA:559 |
NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
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SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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G |
SLC26A4 |
solute carrier family 26 member 4 |
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IAGP |
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HPO |
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ORPHA:705 |
NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
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G |
SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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G |
SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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G |
SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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G |
SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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G |
SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
|
ORPHA:648 |
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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G |
SOS2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
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G |
SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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G |
SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
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IAGP |
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HPO |
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ORPHA:300605 |
NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
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G |
SPRED2 |
sprouty related EVH1 domain containing 2 |
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IAGP |
|
HPO |
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ORPHA:648 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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G |
SPTBN1 |
spectrin beta, non-erythrocytic 1 |
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IAGP |
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HPO |
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MIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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G |
SPTLC1 |
serine palmitoyltransferase long chain base subunit 1 |
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IAGP |
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HPO |
|
ORPHA:300605 |
NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
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G |
STIM1 |
stromal interaction molecule 1 |
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IAGP |
|
HPO |
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ORPHA:3204 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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G |
STS |
steroid sulfatase |
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IAGP |
|
HPO |
|
ORPHA:461 |
NCBI chr X:7,147,290...7,354,641
Ensembl chr X:7,147,237...7,804,358
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G |
STUB1 |
STIP1 homology and U-box containing protein 1 |
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IAGP |
|
HPO |
|
ORPHA:412057 |
NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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G |
STX1A |
syntaxin 1A |
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IAGP |
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HPO |
|
ORPHA:904 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
|
ORPHA:2495 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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G |
TAF6 |
TATA-box binding protein associated factor 6 |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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G |
TAT |
tyrosine aminotransferase |
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IAGP |
|
HPO |
|
ORPHA:28378 |
NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092
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G |
TBK1 |
TANK binding kinase 1 |
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IAGP |
|
HPO |
|
ORPHA:1930 |
NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
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G |
TBL2 |
transducin beta like 2 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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G |
TBX1 |
T-box transcription factor 1 |
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IAGP |
|
HPO |
|
ORPHA:1727 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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G |
TBXAS1 |
thromboxane A synthase 1 |
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IAGP |
|
HPO |
|
ORPHA:1802 |
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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G |
TERT |
telomerase reverse transcriptase |
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IAGP |
|
HPO |
|
ORPHA:2495 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
|
HPO |
|
ORPHA:1297 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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G |
TGFB1 |
transforming growth factor beta 1 |
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IAGP |
|
HPO |
|
ORPHA:1328 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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G |
TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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G |
TICAM1 |
TIR domain containing adaptor molecule 1 |
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IAGP |
|
HPO |
|
ORPHA:1930 |
NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
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G |
TIMM50 |
translocase of inner mitochondrial membrane 50 |
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IAGP |
|
HPO |
|
ORPHA:505216 |
NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
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G |
TLR3 |
toll like receptor 3 |
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IAGP |
|
HPO |
|
ORPHA:1930 |
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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G |
TMEM106B |
transmembrane protein 106B |
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IAGP |
|
HPO |
|
ORPHA:100069 |
NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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G |
TMEM270 |
transmembrane protein 270 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TRAF3 |
TNF receptor associated factor 3 |
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IAGP |
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HPO |
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ORPHA:1930 |
NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
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TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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TRANK1 |
tetratricopeptide repeat and ankyrin repeat containing 1 |
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IAGP |
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HPO |
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ORPHA:33543 |
NCBI chr 3:36,826,819...36,945,744
Ensembl chr 3:36,826,819...36,945,057
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TREM2 |
triggering receptor expressed on myeloid cells 2 |
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IAGP |
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HPO |
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ORPHA:100069 ORPHA:2770 |
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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TRIM32 |
tripartite motif containing 32 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
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TTC8 |
tetratricopeptide repeat domain 8 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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G |
TTN |
titin |
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IAGP |
ClinVar Annotator: match by term: Abnormality of speech or vocalization |
ClinVar |
PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28750076 PMID:29961767 More...
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NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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TTN-AS1 |
TTN antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of speech or vocalization |
ClinVar |
PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 PMID:26467025 PMID:26498160 PMID:28492532 PMID:28750076 PMID:29961767 More...
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NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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TTPA |
alpha tocopherol transfer protein |
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IAGP |
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HPO |
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ORPHA:96 |
NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053
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TYROBP |
transmembrane immune signaling adaptor TYROBP |
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IAGP |
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HPO |
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MIM:221770 ORPHA:2770 |
NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
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UBE3A |
ubiquitin protein ligase E3A |
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IAGP |
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HPO |
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ORPHA:411511 ORPHA:98794 ORPHA:98795 |
NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
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UBE4B |
ubiquitination factor E4B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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UNC93B1 |
unc-93 homolog B1, TLR signaling regulator |
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IAGP |
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HPO |
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ORPHA:1930 |
NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
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UPB1 |
beta-ureidopropionase 1 |
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IAGP |
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HPO |
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MIM:613161 |
NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
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UPF3B |
UPF3B regulator of nonsense mediated mRNA decay |
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IAGP |
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HPO |
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ORPHA:776 |
NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998
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VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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WARS2 |
tryptophanyl tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:617710 ORPHA:572798 |
NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
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WASHC5 |
WASH complex subunit 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WDPCP |
WD repeat containing planar cell polarity effector |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
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ZC4H2 |
zinc finger C4H2-type containing |
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IAGP |
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HPO |
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ORPHA:3454 |
NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713
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ZDHHC9 |
zinc finger DHHC-type palmitoyltransferase 9 |
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IAGP |
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HPO |
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ORPHA:776 |
NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909
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ADAMTSL2 |
ADAMTS like 2 |
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IAGP |
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HPO |
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MIM:231050 |
NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
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AR |
androgen receptor |
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IAGP |
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HPO |
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ORPHA:90797 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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MIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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MIM:210900 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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IAGP |
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HPO |
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MIM:269700 |
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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CHRNB1 |
cholinergic receptor nicotinic beta 1 subunit |
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IAGP |
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HPO |
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MIM:616313 |
NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
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CTNND2 |
catenin delta 2 |
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IAGP |
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HPO |
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ORPHA:281 |
NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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MIM:610965 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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FAM111A |
FAM111 trypsin like peptidase A |
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IAGP |
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HPO |
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MIM:127000 ORPHA:93325 |
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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FMR1 |
fragile X messenger ribonucleoprotein 1 |
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IAGP |
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HPO |
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ORPHA:261483 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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GHR |
growth hormone receptor |
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IAGP |
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HPO |
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MIM:262500 ORPHA:633 |
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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GRB10 |
growth factor receptor bound protein 10 |
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IAGP |
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HPO |
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ORPHA:96182 |
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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MIM:255800 ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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IGF1R |
insulin like growth factor 1 receptor |
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IAGP |
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HPO |
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MIM:270450 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
ITPA |
inosine triphosphatase |
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IAGP |
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HPO |
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MIM:616647 |
NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
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LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MDM2 |
MDM2 proto-oncogene |
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IAGP |
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HPO |
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MIM:618681 |
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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MIM:305450 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MFN2 |
mitofusin 2 |
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IAGP |
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HPO |
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MIM:617087 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MORC2 |
MORC family CW-type zinc finger 2 |
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IAGP |
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HPO |
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MIM:616688 ORPHA:466768 |
NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
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MTX2 |
metaxin 2 |
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IAGP |
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HPO |
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MIM:619127 |
NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
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MYH7 |
myosin heavy chain 7 |
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IAGP |
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HPO |
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ORPHA:324604 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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NBAS |
NBAS subunit of NRZ tethering complex |
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IAGP |
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HPO |
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MIM:614800 |
NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340
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NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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ORC4 |
origin recognition complex subunit 4 |
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IAGP |
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HPO |
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MIM:613800 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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MIM:112240 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PCNT |
pericentrin |
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IAGP |
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HPO |
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MIM:210720 ORPHA:2637 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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POC1A |
POC1 centriolar protein A |
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IAGP |
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HPO |
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MIM:614813 |
NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
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POLD1 |
DNA polymerase delta 1, catalytic subunit |
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IAGP |
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HPO |
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MIM:615381 |
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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PPP1R15B |
protein phosphatase 1 regulatory subunit 15B |
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IAGP |
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HPO |
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MIM:616817 ORPHA:391408 |
NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
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RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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MIM:606744 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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RIN2 |
Ras and Rab interactor 2 |
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IAGP |
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HPO |
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MIM:613075 ORPHA:217335 |
NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
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SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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MIM:616294 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SELENON |
selenoprotein N |
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IAGP |
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HPO |
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MIM:602771 ORPHA:324604 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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G |
SEMA5A |
semaphorin 5A |
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IAGP |
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HPO |
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ORPHA:281 |
NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
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G |
SERPINH1 |
serpin family H member 1 |
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IAGP |
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HPO |
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MIM:613848 |
NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
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G |
SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
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HPO |
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MIM:242900 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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G |
SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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ORPHA:2044 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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STAT5B |
signal transducer and activator of transcription 5B |
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IAGP |
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HPO |
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MIM:245590 |
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
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G |
SYT2 |
synaptotagmin 2 |
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IAGP |
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HPO |
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MIM:619461 |
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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G |
TRIM37 |
tripartite motif containing 37 |
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IAGP |
|
HPO |
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MIM:253250 ORPHA:2576 |
NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
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TRMT10A |
tRNA methyltransferase 10A |
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IAGP |
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HPO |
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ORPHA:391408 |
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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G |
TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
ClinVar Annotator: match by term: High pitched voice |
ClinVar |
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NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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G |
TTN |
titin |
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IAGP |
|
HPO |
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ORPHA:324604 |
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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G |
WRN |
WRN RecQ like helicase |
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IAGP |
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HPO |
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MIM:277700 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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G |
XRCC4 |
X-ray repair cross complementing 4 |
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IAGP |
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HPO |
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MIM:616541 |
NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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G |
BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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G |
CFL2 |
cofilin 2 |
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IAGP |
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HPO |
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MIM:610687 |
NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
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G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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MIM:277590 ORPHA:3447 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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G |
GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
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IAGP |
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HPO |
|
ORPHA:163721 |
NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
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G |
HDAC8 |
histone deacetylase 8 |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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G |
NIPBL |
NIPBL cohesin loading factor |
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IAGP |
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HPO |
|
ORPHA:199 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
|
HPO |
|
ORPHA:3447 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
RAD21 |
RAD21 cohesin complex component |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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G |
SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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G |
SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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G |
SRPX2 |
sushi repeat containing protein X-linked 2 |
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IAGP |
|
HPO |
|
ORPHA:163721 |
NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788
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G |
SUZ12 |
SUZ12 polycomb repressive complex 2 subunit |
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IAGP |
|
HPO |
|
ORPHA:3447 |
NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045
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G |
TAF6 |
TATA-box binding protein associated factor 6 |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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G |
TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
|
HPO |
|
MIM:190350 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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G |
ABHD16A |
abhydrolase domain containing 16A, phospholipase |
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IAGP |
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HPO |
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MIM:619735 |
NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
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ACBD6 |
acyl-CoA binding domain containing 6 |
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IAGP |
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HPO |
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MIM:620785 |
NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954
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ACOX1 |
acyl-CoA oxidase 1 |
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IAGP |
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HPO |
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MIM:618960 |
NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
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ACTL6B |
actin like 6B |
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IAGP |
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HPO |
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MIM:618468 MIM:618470 |
NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
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ADARB1 |
adenosine deaminase RNA specific B1 |
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IAGP |
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HPO |
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MIM:618862 |
NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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MIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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ADSL |
adenylosuccinate lyase |
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IAGP |
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HPO |
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ORPHA:46 |
NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
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AFG2A |
AFG2 AAA ATPase homolog A |
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IAGP |
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HPO |
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MIM:616577 ORPHA:457351 |
NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433
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AGTPBP1 |
ATP/GTP binding carboxypeptidase 1 |
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IAGP |
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HPO |
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MIM:618276 |
NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
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AIMP1 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 1 |
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IAGP |
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HPO |
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MIM:260600 |
NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456
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AIMP2 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 |
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IAGP |
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HPO |
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MIM:618006 |
NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834
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ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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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
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ALG11 |
ALG11 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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MIM:613661 |
NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
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ALG14 |
ALG14 UDP-N-acetylglucosaminyltransferase subunit |
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IAGP |
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HPO |
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MIM:619031 |
NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
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AMPD2 |
adenosine monophosphate deaminase 2 |
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IAGP |
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HPO |
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MIM:615809 |
NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
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AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
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IAGP |
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HPO |
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MIM:304340 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
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AP3B2 |
adaptor related protein complex 3 subunit beta 2 |
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IAGP |
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HPO |
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MIM:617276 |
NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
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ARFGEF1 |
ARF guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
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MIM:619964 |
NCBI chr 8:67,173,511...67,343,781
Ensembl chr 8:67,173,511...67,343,781
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ARID1A |
AT-rich interaction domain 1A |
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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
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ARID1B |
AT-rich interaction domain 1B |
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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
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ARID2 |
AT-rich interaction domain 2 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ARL13B |
ARF like GTPase 13B |
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IAGP |
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HPO |
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MIM:612291 |
NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
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ASH1L |
ASH1 like histone lysine methyltransferase |
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IAGP |
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HPO |
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MIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
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ASPA |
aspartoacylase |
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IAGP |
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HPO |
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ORPHA:314911 |
NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405
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ASXL3 |
ASXL transcriptional regulator 3 |
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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
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ATG7 |
autophagy related 7 |
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IAGP |
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HPO |
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MIM:619422 |
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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ATN1 |
atrophin 1 |
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IAGP |
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HPO |
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MIM:618494 |
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
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ATP10A |
ATPase phospholipid transporting 10A (putative) |
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IAGP |
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HPO |
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ORPHA:411515 |
NCBI chr15:25,672,237...25,865,088
Ensembl chr15:25,677,273...25,865,184
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ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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IAGP |
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HPO |
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MIM:619605 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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ATP5F1A |
ATP synthase F1 subunit alpha |
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IAGP |
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HPO |
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MIM:620358 |
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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ATP6V0C |
ATPase H+ transporting V0 subunit c |
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IAGP |
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HPO |
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MIM:620465 |
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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MIM:618012 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP9A |
ATPase phospholipid transporting 9A (putative) |
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IAGP |
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HPO |
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MIM:620242 |
NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390
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BCAS3 |
BCAS3 microtubule associated cell migration factor |
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IAGP |
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HPO |
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MIM:619641 |
NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838
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BCL11B |
BCL11 transcription factor B |
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IAGP |
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HPO |
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MIM:617237 |
NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
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G |
BICD2 |
BICD cargo adaptor 2 |
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IAGP |
ClinVar Annotator: match by term: Nonverbal |
ClinVar |
PMID:25741868 PMID:30054298 |
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NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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BLTP1 |
bridge-like lipid transfer protein family member 1 |
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IAGP |
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HPO |
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MIM:617822 |
NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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MIM:607932 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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BRAT1 |
BRCA1 associated ATM activator 1 |
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IAGP |
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HPO |
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MIM:618056 |
NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694
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C2CD3 |
C2 domain containing 3 centriole elongation regulator |
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IAGP |
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HPO |
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MIM:615948 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
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CACNA1B |
calcium voltage-gated channel subunit alpha1 B |
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IAGP |
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HPO |
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MIM:618497 |
NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624
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CACNA1E |
calcium voltage-gated channel subunit alpha1 E |
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IAGP |
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HPO |
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MIM:618285 |
NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262
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CACNA1I |
calcium voltage-gated channel subunit alpha1 I |
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IAGP |
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HPO |
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MIM:620114 |
NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735
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G |
CACNA2D1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
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IAGP |
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HPO |
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MIM:620149 |
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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G |
CACNA2D2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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IAGP |
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HPO |
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MIM:618501 |
NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244
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G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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IAGP |
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HPO |
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MIM:617798 MIM:618095 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
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IAGP |
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HPO |
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MIM:617799 |
NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
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CARS2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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ORPHA:477774 |
NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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MIM:300749 ORPHA:163937 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CASZ1 |
castor zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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G |
CCDC47 |
coiled-coil domain containing 47 |
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IAGP |
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HPO |
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MIM:618268 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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CCDC88A |
coiled-coil domain containing 88A |
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IAGP |
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HPO |
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MIM:617507 |
NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895
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CCND2 |
cyclin D2 |
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IAGP |
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HPO |
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MIM:615938 |
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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CDC42 |
cell division cycle 42 |
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IAGP |
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HPO |
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MIM:616737 ORPHA:487796 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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CDON |
cell adhesion associated, oncogene regulated |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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CHAMP1 |
chromosome alignment maintaining phosphoprotein 1 |
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IAGP |
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HPO |
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MIM:616579 |
NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
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CHKA |
choline kinase alpha |
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IAGP |
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HPO |
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MIM:620023 |
NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444
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CHMP1A |
charged multivesicular body protein 1A |
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IAGP |
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HPO |
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MIM:614961 |
NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738
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G |
CLCN3 |
chloride voltage-gated channel 3 |
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IAGP |
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HPO |
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MIM:619512 MIM:619517 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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CLCN4 |
chloride voltage-gated channel 4 |
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IAGP |
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HPO |
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MIM:300114 |
NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660
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CLIC2 |
chloride intracellular channel 2 |
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IAGP |
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HPO |
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ORPHA:324410 |
NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657
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G |
CLP1 |
cleavage factor polyribonucleotide kinase subunit 1 |
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IAGP |
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HPO |
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MIM:615803 |
NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
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CLPB |
ClpB family mitochondrial disaggregase |
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IAGP |
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HPO |
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MIM:619835 |
NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
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G |
CLTC |
clathrin heavy chain |
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IAGP |
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HPO |
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MIM:617854 |
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956
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CNKSR2 |
connector enhancer of kinase suppressor of Ras 2 |
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IAGP |
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HPO |
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MIM:301008 |
NCBI chr X:21,374,418...21,654,689
Ensembl chr X:21,372,801...21,654,695
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CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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IAGP |
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HPO |
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MIM:616418 |
NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
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G |
CNTNAP2 |
contactin associated protein 2 |
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IAGP |
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HPO |
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MIM:610042 ORPHA:163681 |
NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
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COG3 |
component of oligomeric golgi complex 3 |
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IAGP |
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HPO |
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MIM:620546 |
NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701
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G |
COG4 |
component of oligomeric golgi complex 4 |
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IAGP |
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HPO |
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MIM:613489 ORPHA:263501 |
NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
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G |
COG8 |
component of oligomeric golgi complex 8 |
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IAGP |
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HPO |
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MIM:611182 |
NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583
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G |
COPB1 |
COPI coat complex subunit beta 1 |
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IAGP |
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HPO |
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MIM:619255 |
NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
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G |
CPAP |
centrosome assembly and centriole elongation protein |
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IAGP |
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HPO |
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MIM:608393 |
NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889
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G |
CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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MIM:617976 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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G |
CRBN |
cereblon |
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IAGP |
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HPO |
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MIM:607417 |
NCBI chr 3:3,149,633...3,179,717
Ensembl chr 3:3,144,628...3,179,727
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
CRIPTO |
cripto, EGF-CFC family member |
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IAGP |
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HPO |
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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
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G |
CSNK2A1 |
casein kinase 2 alpha 1 |
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IAGP |
|
HPO |
|
MIM:617062 |
NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
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G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
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IAGP |
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HPO |
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ORPHA:397715 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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G |
CTNNA2 |
catenin alpha 2 |
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IAGP |
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HPO |
|
MIM:618174 |
NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861
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G |
CUL4B |
cullin 4B |
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IAGP |
|
HPO |
|
MIM:300354 ORPHA:85293 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
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G |
CYFIP2 |
cytoplasmic FMR1 interacting protein 2 |
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IAGP |
|
HPO |
|
MIM:618008 |
NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595
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G |
DAG1 |
dystroglycan 1 |
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IAGP |
|
HPO |
|
MIM:616538 ORPHA:370997 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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G |
DALRD3 |
DALR anticodon binding domain containing 3 |
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IAGP |
|
HPO |
|
MIM:618910 |
NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293
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G |
DARS2 |
aspartyl-tRNA synthetase 2, mitochondrial |
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IAGP |
|
HPO |
|
ORPHA:137898 |
NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
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G |
DCPS |
decapping enzyme, scavenger |
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IAGP |
|
HPO |
|
MIM:616459 |
NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005
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G |
DEAF1 |
DEAF1 transcription factor |
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IAGP |
|
HPO |
|
MIM:617171 ORPHA:468620 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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G |
DEGS1 |
delta 4-desaturase, sphingolipid 1 |
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IAGP |
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HPO |
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MIM:618404 |
NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441
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DENND5A |
DENN domain containing 5A |
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IAGP |
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HPO |
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MIM:617281 |
NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959
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DHX30 |
DExH-box helicase 30 |
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IAGP |
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HPO |
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MIM:617804 |
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
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DISP1 |
dispatched RND transporter family member 1 |
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IAGP |
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HPO |
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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
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DLL1 |
delta like canonical Notch ligand 1 |
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IAGP |
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HPO |
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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
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DNM1 |
dynamin 1 |
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IAGP |
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HPO |
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MIM:616346 |
NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
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DNM1L |
dynamin 1 like |
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IAGP |
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HPO |
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ORPHA:330050 |
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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DOCK3 |
dedicator of cytokinesis 3 |
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IAGP |
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HPO |
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MIM:618292 |
NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198
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DOCK7 |
dedicator of cytokinesis 7 |
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IAGP |
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HPO |
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MIM:615859 |
NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
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DOHH |
deoxyhypusine hydroxylase |
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IAGP |
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HPO |
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MIM:620066 |
NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674
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DOLK |
dolichol kinase |
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IAGP |
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HPO |
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ORPHA:91131 |
NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603
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DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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IAGP |
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HPO |
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ORPHA:86309 |
NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
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DPF2 |
double PHD fingers 2 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPH5 |
diphthamide biosynthesis 5 |
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IAGP |
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HPO |
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MIM:620070 |
NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088
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G |
DPM2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
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IAGP |
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HPO |
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ORPHA:329178 |
NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854
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G |
DPYD |
dihydropyrimidine dehydrogenase |
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IAGP |
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HPO |
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ORPHA:1675 |
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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G |
DPYSL5 |
dihydropyrimidinase like 5 |
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IAGP |
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HPO |
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MIM:619435 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
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G |
DYM |
dymeclin |
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IAGP |
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HPO |
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MIM:223800 |
NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
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DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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ORPHA:268261 ORPHA:464311 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:614924 |
NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
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EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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MIM:300960 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
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IAGP |
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HPO |
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MIM:616393 MIM:616409 |
NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
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EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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IAGP |
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HPO |
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MIM:610253 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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G |
EIF2AK2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
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IAGP |
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HPO |
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MIM:618877 |
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
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EIF3F |
eukaryotic translation initiation factor 3 subunit F |
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IAGP |
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HPO |
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MIM:618295 |
NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862
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EIF4A2 |
eukaryotic translation initiation factor 4A2 |
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IAGP |
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HPO |
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MIM:620455 |
NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
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ELP2 |
elongator acetyltransferase complex subunit 2 |
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IAGP |
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HPO |
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MIM:617270 |
NCBI chr18:36,129,899...36,180,557
Ensembl chr18:36,129,444...36,180,557
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERLIN2 |
ER lipid raft associated 2 |
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IAGP |
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HPO |
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MIM:611225 ORPHA:209951 ORPHA:280384 |
NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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G |
EXOSC3 |
exosome component 3 |
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IAGP |
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HPO |
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MIM:614678 |
NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117
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EXOSC5 |
exosome component 5 |
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IAGP |
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HPO |
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MIM:619576 |
NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362
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G |
EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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ORPHA:508533 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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G |
FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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ORPHA:466722 |
NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
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FGF12 |
fibroblast growth factor 12 |
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IAGP |
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HPO |
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MIM:617166 |
NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
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G |
FGF13 |
fibroblast growth factor 13 |
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IAGP |
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HPO |
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MIM:301095 |
NCBI chr X:138,614,727...139,205,023
Ensembl chr X:138,614,727...139,222,777
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G |
FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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MIM:236670 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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G |
FKTN |
fukutin |
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IAGP |
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HPO |
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MIM:236670 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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G |
FOXG1 |
forkhead box G1 |
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IAGP |
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HPO |
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MIM:613454 ORPHA:261144 |
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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G |
FOXH1 |
forkhead box H1 |
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IAGP |
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HPO |
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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
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G |
FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
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IAGP |
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HPO |
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MIM:618241 |
NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131
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G |
FRA10AC1 |
FRA10A associated CGG repeat 1 |
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IAGP |
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HPO |
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MIM:620113 |
NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592
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G |
FRMD4A |
FERM domain containing 4A |
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IAGP |
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HPO |
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MIM:616819 ORPHA:466688 |
NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142
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G |
FRMPD4 |
FERM and PDZ domain containing 4 |
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IAGP |
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HPO |
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MIM:300983 |
NCBI chr X:11,822,439...12,724,523
Ensembl chr X:11,822,423...12,724,523
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FRRS1L |
ferric chelate reductase 1 like |
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IAGP |
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HPO |
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MIM:616981 |
NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249
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G |
FTH1 |
ferritin heavy chain 1 |
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IAGP |
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HPO |
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MIM:620669 |
NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
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G |
GABBR2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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IAGP |
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HPO |
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MIM:617903 MIM:617904 |
NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935
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G |
GABRB2 |
gamma-aminobutyric acid type A receptor subunit beta2 |
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IAGP |
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HPO |
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MIM:617829 |
NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044
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G |
GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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G |
GABRG2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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IAGP |
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HPO |
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MIM:618396 |
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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G |
GAMT |
guanidinoacetate N-methyltransferase |
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IAGP |
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HPO |
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MIM:612736 |
NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
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G |
GAS1 |
growth arrest specific 1 |
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IAGP |
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HPO |
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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
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G |
GCDH |
glutaryl-CoA dehydrogenase |
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IAGP |
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HPO |
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MIM:231670 |
NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
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G |
GEMIN4 |
gem nuclear organelle associated protein 4 |
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IAGP |
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HPO |
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MIM:617913 |
NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999
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G |
GET4 |
guided entry of tail-anchored proteins factor 4 |
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IAGP |
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HPO |
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MIM:620200 |
NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436
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G |
GFM2 |
GTP dependent ribosome recycling factor mitochondrial 2 |
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IAGP |
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HPO |
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ORPHA:565624 |
NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147
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G |
GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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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
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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MIM:615350 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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G |
GNAI1 |
G protein subunit alpha i1 |
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IAGP |
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HPO |
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MIM:619854 |
NCBI chr 7:80,134,831...80,226,181
Ensembl chr 7:79,768,028...80,226,181
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G |
GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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MIM:615473 MIM:617493 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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G |
GNB5 |
G protein subunit beta 5 |
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IAGP |
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HPO |
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MIM:617182 ORPHA:542306 |
NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392
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G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
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HPO |
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MIM:252940 |
NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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G |
GOT2 |
glutamic-oxaloacetic transaminase 2 |
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IAGP |
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HPO |
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MIM:618721 |
NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
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G |
GPT2 |
glutamic--pyruvic transaminase 2 |
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IAGP |
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HPO |
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MIM:616281 |
NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
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G |
GRIA1 |
glutamate ionotropic receptor AMPA type subunit 1 |
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IAGP |
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HPO |
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MIM:619927 MIM:619931 |
NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
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G |
GRIA2 |
glutamate ionotropic receptor AMPA type subunit 2 |
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IAGP |
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HPO |
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MIM:618917 |
NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146
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G |
GRIA4 |
glutamate ionotropic receptor AMPA type subunit 4 |
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IAGP |
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HPO |
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MIM:617864 |
NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090
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G |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
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IAGP |
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HPO |
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MIM:619580 |
NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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MIM:614254 MIM:617820 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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G |
GRIN2B |
glutamate ionotropic receptor NMDA type subunit 2B |
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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
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G |
GRIN2D |
glutamate ionotropic receptor NMDA type subunit 2D |
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IAGP |
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HPO |
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MIM:617162 |
NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931
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G |
GRM1 |
glutamate metabotropic receptor 1 |
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IAGP |
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HPO |
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MIM:614831 ORPHA:324262 |
NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
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G |
GSX2 |
GS homeobox 2 |
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IAGP |
|
HPO |
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MIM:618646 |
NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498
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G |
H4C11 |
H4 clustered histone 11 |
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IAGP |
|
HPO |
|
MIM:619759 |
NCBI chr 6:27,824,092...27,824,480
Ensembl chr 6:27,824,092...27,824,480
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G |
HCN1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
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IAGP |
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HPO |
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MIM:615871 |
NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
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G |
HDAC4 |
histone deacetylase 4 |
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IAGP |
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HPO |
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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
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G |
HECW2 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
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IAGP |
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HPO |
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MIM:617268 |
NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684
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G |
HEPACAM |
hepatic and glial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:613926 |
NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412
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G |
HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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IAGP |
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HPO |
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MIM:617011 ORPHA:457359 |
NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
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G |
HID1 |
HID1 domain containing |
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IAGP |
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HPO |
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MIM:619983 |
NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
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G |
HIKESHI |
heat shock protein nuclear import factor hikeshi |
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IAGP |
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HPO |
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MIM:616881 |
NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943
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G |
HIVEP2 |
HIVEP zinc finger 2 |
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IAGP |
|
HPO |
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MIM:616977 |
NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698
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G |
HNRNPC |
heterogeneous nuclear ribonucleoprotein C |
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IAGP |
|
HPO |
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MIM:620688 |
NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
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G |
HNRNPH1 |
heterogeneous nuclear ribonucleoprotein H1 |
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IAGP |
|
HPO |
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MIM:620083 |
NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
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G |
HNRNPH2 |
heterogeneous nuclear ribonucleoprotein H2 |
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IAGP |
|
HPO |
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MIM:300986 |
NCBI chr X:101,408,222...101,414,133
Ensembl chr X:101,408,222...101,414,133
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HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
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IAGP |
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HPO |
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MIM:616580 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
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HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
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IAGP |
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HPO |
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MIM:617391 |
NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
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HSD17B10 |
hydroxysteroid 17-beta dehydrogenase 10 |
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IAGP |
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HPO |
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ORPHA:391428 |
NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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HTT |
huntingtin |
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IAGP |
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HPO |
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MIM:617435 |
NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
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HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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IAGP |
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HPO |
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MIM:309590 |
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
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IARS1 |
isoleucyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:617093 ORPHA:541423 |
NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:615846 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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INTS1 |
integrator complex subunit 1 |
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IAGP |
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HPO |
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MIM:618571 |
NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389
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INTS8 |
integrator complex subunit 8 |
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IAGP |
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HPO |
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MIM:618572 |
NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746
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IQSEC1 |
IQ motif and Sec7 domain ArfGEF 1 |
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IAGP |
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HPO |
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MIM:618687 |
NCBI chr 3:12,897,043...13,283,257
Ensembl chr 3:12,897,043...13,283,281
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IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
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IAGP |
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HPO |
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ORPHA:397933 |
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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IREB2 |
iron responsive element binding protein 2 |
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IAGP |
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HPO |
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MIM:618451 |
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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IRF2BPL |
interferon regulatory factor 2 binding protein like |
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IAGP |
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HPO |
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MIM:618088 |
NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708
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ISCA2 |
iron-sulfur cluster assembly 2 |
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IAGP |
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HPO |
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MIM:616370 |
NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106
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KARS1 |
lysyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619147 ORPHA:3240 |
NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
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KAT6A |
lysine acetyltransferase 6A |
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IAGP |
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HPO |
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MIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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KCNA2 |
potassium voltage-gated channel subfamily A member 2 |
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IAGP |
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HPO |
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MIM:616366 |
NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474
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KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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KCNB1 |
potassium voltage-gated channel subfamily B member 1 |
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IAGP |
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HPO |
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MIM:616056 |
NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297
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KCNC2 |
potassium voltage-gated channel subfamily C member 2 |
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IAGP |
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HPO |
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MIM:619913 |
NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839
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KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
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IAGP |
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HPO |
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ORPHA:420561 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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IAGP |
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HPO |
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ORPHA:199343 |
NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
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KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
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IAGP |
ClinVar Annotator: match by term: Absent speech development |
ClinVar |
PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 PMID:25959266 PMID:28492532 PMID:29760947 PMID:31152295 PMID:31832524 PMID:32139178 PMID:32573669 PMID:32581362 PMID:32917465 PMID:34711204 PMID:35104249 More...
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NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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KCNQ5 |
potassium voltage-gated channel subfamily Q member 5 |
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IAGP |
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HPO |
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MIM:617601 |
NCBI chr 6:72,622,064...73,198,853
Ensembl chr 6:72,621,792...73,198,853
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KCNT1 |
potassium sodium-activated channel subfamily T member 1 |
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IAGP |
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HPO |
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MIM:614959 |
NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
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KCTD7 |
potassium channel tetramerization domain containing 7 |
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IAGP |
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HPO |
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MIM:611726 |
NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067
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KDM5A |
lysine demethylase 5A |
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IAGP |
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HPO |
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MIM:620820 |
NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320
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KIAA0586 |
KIAA0586 |
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IAGP |
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HPO |
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ORPHA:397715 |
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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KIF15 |
kinesin family member 15 |
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IAGP |
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HPO |
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ORPHA:261323 |
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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KIF1A |
kinesin family member 1A |
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IAGP |
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HPO |
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MIM:614255 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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KIF5C |
kinesin family member 5C |
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IAGP |
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HPO |
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MIM:615282 |
NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
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KLHL15 |
kelch like family member 15 |
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IAGP |
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HPO |
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MIM:300982 |
NCBI chr X:23,983,720...24,027,186
Ensembl chr X:23,983,716...24,027,186
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KMT5B |
lysine methyltransferase 5B |
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IAGP |
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HPO |
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MIM:617788 |
NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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MIM:236670 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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LAS1L |
LAS1 like ribosome biogenesis factor |
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IAGP |
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HPO |
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MIM:309585 |
NCBI chr X:65,512,582...65,534,787
Ensembl chr X:65,438,549...65,534,810
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LINGO1 |
leucine rich repeat and Ig domain containing 1 |
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IAGP |
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HPO |
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MIM:618103 |
NCBI chr15:77,613,027...77,820,900
Ensembl chr15:77,613,027...77,820,900
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LINS1 |
lines homolog 1 |
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IAGP |
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HPO |
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MIM:614340 |
NCBI chr15:100,566,924...100,602,184
Ensembl chr15:100,559,369...100,603,230
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LIPT2 |
lipoyl(octanoyl) transferase 2 |
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IAGP |
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HPO |
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MIM:617668 |
NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724
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LMAN2L |
lectin, mannose binding 2 like |
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IAGP |
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HPO |
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MIM:617863 |
NCBI chr 2:96,705,929...96,740,064
Ensembl chr 2:96,705,929...96,740,064
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LMNB1 |
lamin B1 |
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IAGP |
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HPO |
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MIM:619179 |
NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
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LNPK |
lunapark, ER junction formation factor |
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IAGP |
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HPO |
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MIM:618090 |
NCBI chr 2:175,923,882...176,002,820
Ensembl chr 2:175,923,882...176,002,839
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LOC126860802 |
BRD4-independent group 4 enhancer GRCh37_chr10:294268-295467 |
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IAGP |
ClinVar Annotator: match by term: Absent speech development |
ClinVar |
PMID:25741868 |
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NCBI chr10:248,328...249,527
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LUZP1 |
leucine zipper protein 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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MAB21L1 |
mab-21 like 1 |
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IAGP |
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HPO |
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MIM:618479 |
NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764
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MACF1 |
microtubule actin crosslinking factor 1 |
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IAGP |
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HPO |
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MIM:618325 |
NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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MIM:615547 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAST1 |
microtubule associated serine/threonine kinase 1 |
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IAGP |
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HPO |
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MIM:618273 |
NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952
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MBOAT7 |
membrane bound O-acyltransferase domain containing 7 |
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IAGP |
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HPO |
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MIM:617188 |
NCBI chr19:54,173,415...54,189,580
Ensembl chr19:54,173,412...54,189,882
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MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
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HPO |
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MIM:252650 ORPHA:578 |
NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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MDH2 |
malate dehydrogenase 2 |
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IAGP |
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HPO |
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MIM:617339 |
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
ClinVar Annotator: match by term: Absent speech development |
HPO ClinVar |
PMID:10767337 PMID:10854091 PMID:11245712 PMID:11524741 PMID:12075485 PMID:12111643 PMID:12180070 PMID:12615169 PMID:16473305 PMID:16690727 PMID:17089071 PMID:17142618 PMID:17387578 PMID:21160487 PMID:21954873 PMID:25741868 PMID:28492532 PMID:34837432 More...
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MIM:300055 MIM:300260 ORPHA:778 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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MIM:300895 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MED23 |
mediator complex subunit 23 |
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IAGP |
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HPO |
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MIM:614249 |
NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242
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MED25 |
mediator complex subunit 25 |
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IAGP |
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HPO |
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ORPHA:464738 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
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MEF2C |
myocyte enhancer factor 2C |
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IAGP |
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HPO |
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MIM:613443 |
NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257
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MFF |
mitochondrial fission factor |
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IAGP |
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HPO |
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MIM:617086 |
NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
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MFSD2A |
MFSD2 lysolipid transporter A, lysophospholipid |
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IAGP |
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HPO |
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MIM:616486 |
NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
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MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
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IAGP |
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HPO |
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MIM:619527 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
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MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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MIM:249000 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MMP23B |
matrix metallopeptidase 23B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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MPDU1 |
mannose-P-dolichol utilization defect 1 |
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IAGP |
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HPO |
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MIM:609180 |
NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
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MRPL12 |
mitochondrial ribosomal protein L12 |
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IAGP |
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HPO |
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MIM:618951 |
NCBI chr17:81,703,367...81,707,517
Ensembl chr17:81,703,367...81,707,517
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MRPS34 |
mitochondrial ribosomal protein S34 |
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IAGP |
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HPO |
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MIM:617664 |
NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150
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MSL3 |
MSL complex subunit 3 |
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IAGP |
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HPO |
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MIM:301032 |
NCBI chr X:11,758,159...11,775,772
Ensembl chr X:11,758,159...11,775,772
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NACC1 |
nucleus accumbens associated 1 |
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IAGP |
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HPO |
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MIM:617393 |
NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147
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NALCN |
sodium leak channel, non-selective |
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IAGP |
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HPO |
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MIM:615419 ORPHA:371364 |
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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NCAPD2 |
non-SMC condensin I complex subunit D2 |
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IAGP |
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HPO |
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MIM:617983 |
NCBI chr12:6,494,102...6,531,955
Ensembl chr12:6,493,356...6,531,955
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NCAPG2 |
non-SMC condensin II complex subunit G2 |
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IAGP |
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HPO |
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MIM:618460 |
NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804
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NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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MIM:617201 |
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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NEXMIF |
neurite extension and migration factor |
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IAGP |
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HPO |
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MIM:300912 ORPHA:85277 |
NCBI chr X:74,732,856...74,925,452
Ensembl chr X:74,732,856...74,925,472
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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ORPHA:447980 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NGLY1 |
N-glycanase 1 |
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IAGP |
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HPO |
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ORPHA:404454 |
NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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NR2F1 |
nuclear receptor subfamily 2 group F member 1 |
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IAGP |
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HPO |
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ORPHA:401777 |
NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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MIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NSRP1 |
nuclear speckle splicing regulatory protein 1 |
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IAGP |
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HPO |
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MIM:620001 |
NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475
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NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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MIM:611091 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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NTNG2 |
netrin G2 |
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IAGP |
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HPO |
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MIM:618718 |
NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526
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NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:617830 |
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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OCA2 |
OCA2 melanosomal transmembrane protein |
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IAGP |
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HPO |
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ORPHA:98794 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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ODC1 |
ornithine decarboxylase 1 |
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IAGP |
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HPO |
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ORPHA:544488 |
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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MIM:300804 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OPHN1 |
oligophrenin 1 |
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IAGP |
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HPO |
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MIM:300486 |
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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OTUD6B |
OTU deubiquitinase 6B |
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IAGP |
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HPO |
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ORPHA:505237 |
NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
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PACS1 |
phosphofurin acidic cluster sorting protein 1 |
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IAGP |
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HPO |
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MIM:615009 ORPHA:329224 |
NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
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PARS2 |
prolyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:618437 |
NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523
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PCGF2 |
polycomb group ring finger 2 |
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IAGP |
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HPO |
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MIM:618371 |
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
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PDPN |
podoplanin |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PGAP1 |
post-GPI attachment to proteins inositol deacylase 1 |
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IAGP |
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HPO |
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MIM:615802 |
NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
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PGAP2 |
post-GPI attachment to proteins 2 |
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IAGP |
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HPO |
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MIM:614207 |
NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
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PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
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IAGP |
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HPO |
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MIM:615716 |
NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
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PI4K2A |
phosphatidylinositol 4-kinase type 2 alpha |
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IAGP |
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HPO |
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MIM:620732 |
NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434
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PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
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IAGP |
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HPO |
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MIM:300868 MIM:301072 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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PIGF |
phosphatidylinositol glycan anchor biosynthesis class F |
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IAGP |
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HPO |
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MIM:619356 |
NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055
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PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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MIM:616917 ORPHA:488635 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
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IAGP |
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HPO |
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MIM:614080 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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MIM:617599 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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PIGS |
phosphatidylinositol glycan anchor biosynthesis class S |
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IAGP |
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HPO |
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MIM:618143 |
NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
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PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
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IAGP |
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HPO |
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MIM:239300 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
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PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
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IAGP |
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HPO |
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MIM:616025 |
NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
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PLAA |
phospholipase A2 activating protein |
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IAGP |
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HPO |
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MIM:617527 |
NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
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PLCH1 |
phospholipase C eta 1 |
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IAGP |
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HPO |
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ORPHA:93925 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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PLK4 |
polo like kinase 4 |
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IAGP |
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HPO |
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MIM:616171 |
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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PLP1 |
proteolipid protein 1 |
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IAGP |
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HPO |
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ORPHA:280210 |
NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619
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PMPCB |
peptidase, mitochondrial processing subunit beta |
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IAGP |
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HPO |
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MIM:617954 |
NCBI chr 7:103,297,435...103,347,542
Ensembl chr 7:103,297,407...103,331,818
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PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
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IAGP |
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HPO |
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MIM:614932 |
NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863
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POGZ |
pogo transposable element derived with ZNF domain |
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IAGP |
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HPO |
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ORPHA:468678 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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POLR1A |
RNA polymerase I subunit A |
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IAGP |
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HPO |
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MIM:620675 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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POLR3K |
RNA polymerase III subunit K |
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IAGP |
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HPO |
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MIM:619310 |
NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608
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POLRMT |
RNA polymerase mitochondrial |
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IAGP |
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HPO |
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MIM:619743 |
NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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MIM:236670 MIM:613155 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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MIM:236670 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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POT1 |
protection of telomeres 1 |
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IAGP |
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HPO |
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MIM:620368 |
NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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PPFIBP1 |
PPFIA binding protein 1 |
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IAGP |
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HPO |
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MIM:620024 |
NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564
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PPIL1 |
peptidylprolyl isomerase like 1 |
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IAGP |
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HPO |
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MIM:619301 |
NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
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PPP2R1A |
protein phosphatase 2 scaffold subunit Aalpha |
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IAGP |
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HPO |
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MIM:616362 ORPHA:457284 |
NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
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PPP2R5D |
protein phosphatase 2 regulatory subunit B'delta |
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IAGP |
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HPO |
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MIM:616355 ORPHA:457279 |
NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
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PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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IAGP |
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HPO |
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MIM:617711 |
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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PRDM16 |
PR/SET domain 16 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ |
protein kinase C zeta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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IAGP |
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HPO |
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MIM:301835 |
NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
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PRUNE1 |
prune exopolyphosphatase 1 |
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IAGP |
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HPO |
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MIM:617481 ORPHA:544469 |
NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713
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PSMB1 |
proteasome 20S subunit beta 1 |
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IAGP |
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HPO |
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MIM:620038 |
NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,120...170,553,307
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PSMC1 |
proteasome 26S subunit, ATPase 1 |
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IAGP |
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HPO |
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MIM:620071 |
NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429
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PTCH1 |
patched 1 |
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IAGP |
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HPO |
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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
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PURA |
purine rich element binding protein A |
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IAGP |
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HPO |
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MIM:616158 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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PUS3 |
pseudouridine synthase 3 |
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IAGP |
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HPO |
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ORPHA:488627 |
NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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PYCR2 |
pyrroline-5-carboxylate reductase 2 |
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IAGP |
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HPO |
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MIM:616420 ORPHA:481152 |
NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
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RAB11B |
RAB11B, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:617807 |
NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
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RAB18 |
RAB18, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:614222 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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MIM:614225 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAB5IF |
RAB5 interacting factor |
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IAGP |
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HPO |
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MIM:616994 |
NCBI chr20:36,605,779...36,612,557
Ensembl chr20:36,605,779...36,612,557
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RAC1 |
Rac family small GTPase 1 |
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IAGP |
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HPO |
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MIM:617751 ORPHA:500159 |
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RALA |
RAS like proto-oncogene A |
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IAGP |
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HPO |
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MIM:619311 |
NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120
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RALGAPA1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
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IAGP |
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HPO |
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MIM:618797 |
NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
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RARS2 |
arginyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:611523 |
NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RHOBTB2 |
Rho related BTB domain containing 2 |
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IAGP |
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HPO |
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MIM:618004 |
NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509
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RMND1 |
required for meiotic nuclear division 1 homolog |
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IAGP |
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HPO |
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MIM:614922 |
NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158
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RNU4-2 |
RNA, U4 small nuclear 2 |
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IAGP |
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HPO |
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MIM:620851 |
NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903
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RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
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HPO |
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MIM:619487 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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RPL10 |
ribosomal protein L10 |
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IAGP |
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HPO |
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ORPHA:459070 |
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
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SATB1 |
SATB homeobox 1 |
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IAGP |
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HPO |
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MIM:619229 |
NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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ORPHA:251028 ORPHA:576283 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
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HPO |
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MIM:619317 |
NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
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SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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IAGP |
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HPO |
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MIM:617938 |
NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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SERAC1 |
serine active site containing 1 |
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IAGP |
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HPO |
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MIM:614739 |
NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280
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SETBP1 |
SET binding protein 1 |
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IAGP |
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HPO |
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MIM:616078 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SHH |
sonic hedgehog signaling molecule |
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IAGP |
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HPO |
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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
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SHQ1 |
SHQ1, H/ACA ribonucleoprotein assembly factor |
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IAGP |
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HPO |
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MIM:619922 |
NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914
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SHROOM4 |
shroom family member 4 |
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IAGP |
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HPO |
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ORPHA:85288 |
NCBI chr X:50,575,534...50,814,194
Ensembl chr X:50,586,796...50,814,302
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SIK1 |
salt inducible kinase 1 |
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IAGP |
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HPO |
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MIM:616341 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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SIX3 |
SIX homeobox 3 |
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IAGP |
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HPO |
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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
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SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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SLC12A2 |
solute carrier family 12 member 2 |
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IAGP |
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HPO |
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MIM:619080 MIM:619083 |
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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SLC12A6 |
solute carrier family 12 member 6 |
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IAGP |
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HPO |
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MIM:218000 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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SLC13A5 |
solute carrier family 13 member 5 |
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IAGP |
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HPO |
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MIM:615905 |
NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
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SLC1A2 |
solute carrier family 1 member 2 |
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IAGP |
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HPO |
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MIM:617105 |
NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
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SLC1A4 |
solute carrier family 1 member 4 |
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IAGP |
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HPO |
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MIM:616657 |
NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
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SLC25A12 |
solute carrier family 25 member 12 |
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IAGP |
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HPO |
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MIM:612949 |
NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
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SLC2A1 |
solute carrier family 2 member 1 |
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IAGP |
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HPO |
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MIM:608885 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC33A1 |
solute carrier family 33 member 1 |
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IAGP |
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HPO |
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MIM:614482 |
NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
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SLC35A2 |
solute carrier family 35 member A2 |
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IAGP |
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HPO |
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MIM:300896 |
NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958
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SLC35B2 |
solute carrier family 35 member B2 |
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IAGP |
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HPO |
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MIM:620269 |
NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890
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SLC38A3 |
solute carrier family 38 member 3 |
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IAGP |
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HPO |
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MIM:619881 |
NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
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SLC39A14 |
solute carrier family 39 member 14 |
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IAGP |
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HPO |
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MIM:617013 |
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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SLC4A10 |
solute carrier family 4 member 10 |
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IAGP |
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HPO |
|
MIM:620746 |
NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282
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SLC6A17 |
solute carrier family 6 member 17 |
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IAGP |
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HPO |
|
MIM:616269 |
NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
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SLC6A3 |
solute carrier family 6 member 3 |
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IAGP |
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HPO |
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ORPHA:238455 |
NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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SLC9A6 |
solute carrier family 9 member A6 |
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IAGP |
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HPO |
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MIM:300243 ORPHA:85278 |
NCBI chr X:135,973,837...136,047,269
Ensembl chr X:135,973,841...136,047,269
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SLITRK2 |
SLIT and NTRK like family member 2 |
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IAGP |
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HPO |
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MIM:301107 |
NCBI chr X:145,817,829...145,829,856
Ensembl chr X:145,817,829...145,829,856
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SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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IAGP |
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HPO |
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MIM:601358 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
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SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
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IAGP |
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HPO |
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MIM:614609 ORPHA:1465 |
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCC2 |
SWI/SNF related BAF chromatin remodeling complex subunit C2 |
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IAGP |
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HPO |
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MIM:618362 ORPHA:1465 |
NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
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SMARCD1 |
SWI/SNF related BAF chromatin remodeling complex subunit D1 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
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SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
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HPO |
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MIM:616938 ORPHA:1465 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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MIM:301044 ORPHA:220386 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SMS |
spermine synthase |
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IAGP |
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HPO |
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ORPHA:3063 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
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SNRPN |
small nuclear ribonucleoprotein polypeptide N |
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IAGP |
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HPO |
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MIM:105830 ORPHA:177907 ORPHA:411515 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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SNX14 |
sorting nexin 14 |
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IAGP |
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HPO |
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MIM:616354 ORPHA:397709 |
NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
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SOD1 |
superoxide dismutase 1 |
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IAGP |
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HPO |
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MIM:618598 |
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SOX11 |
SRY-box transcription factor 11 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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SOX4 |
SRY-box transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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MIM:619312 ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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SPTBN1 |
spectrin beta, non-erythrocytic 1 |
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IAGP |
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HPO |
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MIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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SPTBN4 |
spectrin beta, non-erythrocytic 4 |
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IAGP |
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HPO |
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MIM:617519 |
NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
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SPTSSA |
serine palmitoyltransferase small subunit A |
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IAGP |
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HPO |
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MIM:620416 MIM:620417 |
NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240
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SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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ORPHA:2044 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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SRPK3 |
SRSF protein kinase 3 |
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IAGP |
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HPO |
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MIM:301134 |
NCBI chr X:153,781,041...153,785,730
Ensembl chr X:153,776,412...153,785,732
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ST3GAL5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
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IAGP |
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HPO |
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MIM:609056 |
NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
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STAG2 |
STAG2 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93925 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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STIL |
STIL centriolar assembly protein |
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IAGP |
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HPO |
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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
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STRADA |
STE20 related adaptor alpha |
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IAGP |
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HPO |
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MIM:611087 ORPHA:500533 |
NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
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STXBP1 |
syntaxin binding protein 1 |
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IAGP |
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HPO |
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MIM:612164 ORPHA:599373 |
NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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SUOX |
sulfite oxidase |
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IAGP |
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HPO |
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MIM:272300 |
NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641
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SUPT16H |
SPT16 homolog, facilitates chromatin remodeling subunit |
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IAGP |
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HPO |
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MIM:619480 |
NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
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SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
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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
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SYNGAP1-AS1 |
SYNGAP1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Absent speech |
ClinVar |
PMID:25741868 |
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NCBI chr 6:33,437,363...33,454,405
Ensembl chr 6:33,436,829...33,454,470
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SYT1 |
synaptotagmin 1 |
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IAGP |
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HPO |
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MIM:618218 ORPHA:522077 |
NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
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SZT2 |
SZT2 subunit of KICSTOR complex |
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IAGP |
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HPO |
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MIM:615476 |
NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247
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TAF2 |
TATA-box binding protein associated factor 2 |
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IAGP |
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HPO |
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ORPHA:397951 |
NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863
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TANGO2 |
transport and golgi organization 2 homolog |
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IAGP |
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HPO |
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MIM:616878 |
NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
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TBC1D20 |
TBC1 domain family member 20 |
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IAGP |
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HPO |
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MIM:615663 |
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
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TBCD |
tubulin folding cofactor D |
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IAGP |
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HPO |
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MIM:617193 ORPHA:496641 |
NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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MIM:617207 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBCK |
TBC1 domain containing kinase |
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IAGP |
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HPO |
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MIM:616900 |
NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
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TBL1XR1 |
TBL1X/Y related 1 |
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IAGP |
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HPO |
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ORPHA:487825 |
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
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TCF4 |
transcription factor 4 |
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IAGP |
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HPO |
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MIM:610954 ORPHA:2896 |
NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
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TCTN2 |
tectonic family member 2 |
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IAGP |
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HPO |
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MIM:616654 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
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TELO2 |
telomere maintenance 2 |
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IAGP |
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HPO |
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MIM:616954 ORPHA:488642 |
NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
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TFE3 |
transcription factor binding to IGHM enhancer 3 |
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IAGP |
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HPO |
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MIM:301066 |
NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410
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TGIF1 |
TGFB induced factor homeobox 1 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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TIMM50 |
translocase of inner mitochondrial membrane 50 |
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IAGP |
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HPO |
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MIM:617698 ORPHA:505216 |
NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
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TKT |
transketolase |
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IAGP |
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HPO |
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MIM:617044 ORPHA:488618 |
NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052
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TMCO1 |
transmembrane and coiled-coil domains 1 |
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IAGP |
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HPO |
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MIM:213980 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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TMEM106B |
transmembrane protein 106B |
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IAGP |
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HPO |
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MIM:617964 |
NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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TMEM147 |
transmembrane protein 147 |
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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
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TMEM231 |
transmembrane protein 231 |
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IAGP |
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HPO |
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MIM:614970 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
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TMEM67 |
transmembrane protein 67 |
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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 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23351400 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 PMID:30029678 More...
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NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TMTC3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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IAGP |
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HPO |
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MIM:617255 |
NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
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TNPO2 |
transportin 2 |
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IAGP |
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HPO |
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MIM:619556 |
NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011
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TOE1 |
target of EGR1, exonuclease |
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IAGP |
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HPO |
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MIM:614969 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
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TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
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IAGP |
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HPO |
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MIM:619185 |
NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
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TOR1A |
torsin family 1 member A |
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IAGP |
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HPO |
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MIM:618947 |
NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
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TRAPPC10 |
trafficking protein particle complex subunit 10 |
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IAGP |
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HPO |
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MIM:620027 |
NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
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TRAPPC11 |
trafficking protein particle complex subunit 11 |
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IAGP |
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HPO |
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ORPHA:369840 |
NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
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TRAPPC2L |
trafficking protein particle complex subunit 2L |
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IAGP |
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HPO |
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