Term: | Abnormal heart morphology |
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Accession: | HP:0001627
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browse the term
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Definition: | Any structural anomaly of the heart. |
Synonyms: | exact_synonym: | Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect; congenital heart malformation |
| alt_id: | HP:3000001 |
| xref: | EFO:0005269; SNOMEDCT_US:13213009; UMLS:C0018798; UMLS:C0152021 |
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ABCC8 |
ATP binding cassette subfamily C member 8 |
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IAGP |
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HPO |
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ORPHA:99885 ORPHA:99886 |
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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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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AFF4 |
ALF transcription elongation factor 4 |
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IAGP |
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HPO |
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ORPHA:444077 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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ALG1 |
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79327 |
NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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MIM:263210 ORPHA:79328 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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ARID1A |
AT-rich interaction domain 1A |
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IAGP |
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HPO |
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MIM:614607 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 |
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HPO |
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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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ARL6 |
ARF like GTPase 6 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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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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AUTS2 |
activator of transcription and developmental regulator AUTS2 |
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IAGP |
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HPO |
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ORPHA:352490 |
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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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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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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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:79076 |
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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RGD |
PMID:16474404 |
RGD:1600471 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
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CCDC65 |
coiled-coil domain containing 65 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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CCNO |
cyclin O |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
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CDC42 |
cell division cycle 42 |
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IAGP |
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HPO |
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ORPHA:487796 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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CDK13 |
cyclin dependent kinase 13 |
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IAGP |
DNA:Mutations:cds : |
RGD |
PMID:28807008 |
RGD:155631312 |
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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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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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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CFAP221 |
cilia and flagella associated protein 221 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
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CFAP298 |
cilia and flagella associated protein 298 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
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CFAP300 |
cilia and flagella associated protein 300 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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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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CFAP74 |
cilia and flagella associated protein 74 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
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CFC1B |
cryptic, EGF-CFC family member 1B |
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IAGP |
DNA:CNVs::2q21.1 (human) |
RGD |
PMID:25423076 |
RGD:155226881 |
NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604
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CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
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HPO |
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ORPHA:2953 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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COG7 |
component of oligomeric golgi complex 7 |
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IAGP |
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HPO |
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ORPHA:79333 |
NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
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COL25A1 |
collagen type XXV alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:1143 |
NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752
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CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
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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 ORPHA:592574 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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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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CSNK2A1 |
casein kinase 2 alpha 1 |
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IAGP |
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HPO |
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MIM:617062 |
NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
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DCHS1 |
dachsous cadherin-related 1 |
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IAGP |
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HPO |
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ORPHA:314679 |
NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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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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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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DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:254525 ORPHA:254534 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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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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DNAAF1 |
dynein axonemal assembly factor 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
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DNAAF11 |
dynein axonemal assembly factor 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
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DNAAF19 |
dynein axonemal assembly factor 19 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
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DNAAF2 |
dynein axonemal assembly factor 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
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DNAAF3 |
dynein axonemal assembly factor 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
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DNAAF4 |
dynein axonemal assembly factor 4 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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DNAAF5 |
dynein axonemal assembly factor 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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DNAAF6 |
dynein axonemal assembly factor 6 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:107,206,611...107,244,247
Ensembl chr X:107,206,611...107,244,247
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DNAH1 |
dynein axonemal heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
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DNAH11 |
dynein axonemal heavy chain 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
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DNAH5 |
dynein axonemal heavy chain 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
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DNAH9 |
dynein axonemal heavy chain 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
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DNAI1 |
dynein axonemal intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
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DNAI2 |
dynein axonemal intermediate chain 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
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DNAJB13 |
DnaJ heat shock protein family (Hsp40) member B13 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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DNAL1 |
dynein axonemal light chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
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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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DRC1 |
dynein regulatory complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
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DSE |
dermatan sulfate epimerase |
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IAGP |
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HPO |
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ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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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 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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ORPHA:401973 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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EFL1 |
elongation factor like GTPase 1 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:261652 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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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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EPHB4 |
EPH receptor B4 |
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IAGP |
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HPO |
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ORPHA:137667 |
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
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HPO |
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MIM:610758 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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ERGIC1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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IAGP |
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HPO |
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ORPHA:1143 |
NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
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ESR1 |
estrogen receptor 1 |
susceptibility |
IAGP |
DNA:SNP:intron: |
RGD |
PMID:19032828 |
RGD:8553058 |
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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FAM149B1 |
family with sequence similarity 149 member B1 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
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FANCA |
FA complementation group A |
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IAGP |
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HPO |
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MIM:227650 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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MIM:227646 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FANCE |
FA complementation group E |
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IAGP |
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HPO |
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MIM:600901 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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FAT4 |
FAT atypical cadherin 4 |
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IAGP |
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HPO |
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ORPHA:314679 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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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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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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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:101400 ORPHA:794 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:794 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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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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FLNA |
filamin A |
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IAGP |
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HPO |
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ORPHA:1826 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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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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FOXJ1 |
forkhead box J1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
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FOXP1 |
forkhead box P1 |
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IAGP |
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HPO |
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ORPHA:391372 |
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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FRAS1 |
Fraser extracellular matrix complex subunit 1 |
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IAGP |
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HPO |
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MIM:219000 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
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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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GAS2L2 |
growth arrest specific 2 like 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
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GAS8 |
growth arrest specific 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
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GATA1 |
GATA binding protein 1 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
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GATA3 |
GATA binding protein 3 |
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IAGP |
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HPO |
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ORPHA:2237 |
NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
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GATA6 |
GATA binding protein 6 |
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IAGP |
ClinVar Annotator: match by term: Congenital heart defects |
ClinVar |
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NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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GCK |
glucokinase |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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GDF1 |
growth differentiation factor 1 |
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IAGP |
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RGD |
PMID:23076529 |
RGD:243065149 |
NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
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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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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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MIM:175700 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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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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HACD1 |
3-hydroxyacyl-CoA dehydratase 1 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
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HEATR3 |
HEAT repeat containing 3 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
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G |
HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
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IAGP |
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HPO |
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ORPHA:352665 ORPHA:453504 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1865 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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HYDIN |
HYDIN axonemal central pair apparatus protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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G |
HYMAI |
hydatidiform mole associated and imprinted |
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IAGP |
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HPO |
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ORPHA:99886 |
NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
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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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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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INS |
insulin |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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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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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 |
ITGA7 |
integrin subunit alpha 7 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
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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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MIM:117360 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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G |
JUP |
junction plakoglobin |
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IAGP |
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HPO |
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MIM:601214 |
NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
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G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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G |
KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
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IAGP |
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HPO |
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ORPHA:99885 ORPHA:99886 |
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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G |
KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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KIF7 |
kinesin family member 7 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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G |
KMT2C |
lysine methyltransferase 2C |
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IAGP |
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HPO |
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ORPHA:261652 |
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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RGD |
PMID:16474404 |
RGD:1600471 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LEMD3 |
LEM domain containing 3 |
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IAGP |
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HPO |
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ORPHA:166119 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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G |
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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G |
LMBRD1 |
LMBR1 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:79284 |
NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
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G |
LMOD1 |
leiomodin 1 |
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IAGP |
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HPO |
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MIM:619362 |
NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548
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G |
LRPPRC |
leucine rich pentatricopeptide repeat containing |
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IAGP |
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HPO |
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ORPHA:70472 |
NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
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G |
LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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G |
LZTFL1 |
leucine zipper transcription factor like 1 |
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IAGP |
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HPO |
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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 |
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human) |
RGD |
PMID:31825158 |
RGD:151708718 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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ORPHA:1826 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
MCIDAS |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
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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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MED13L |
mediator complex subunit 13L |
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IAGP |
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HPO |
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ORPHA:369891 |
NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
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G |
MEG3 |
maternally expressed 3 |
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IAGP |
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HPO |
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ORPHA:254525 ORPHA:254534 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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G |
MGAT2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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IAGP |
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HPO |
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ORPHA:79329 |
NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
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G |
MID1 |
midline 1 |
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IAGP |
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HPO |
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ORPHA:2745 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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G |
MKKS |
MKKS centrosomal shuttling protein |
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IAGP |
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HPO |
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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 |
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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 |
MMACHC |
metabolism of cobalamin associated C |
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IAGP |
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HPO |
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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 |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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ORPHA:391641 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
MYL2 |
myosin light chain 2 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
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G |
NEK10 |
NIMA related kinase 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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G |
NEU1 |
neuraminidase 1 |
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IAGP |
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HPO |
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ORPHA:93399 ORPHA:93400 |
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
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G |
NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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ORPHA:363700 ORPHA:97685 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NIPA1 |
NIPA magnesium transporter 1 |
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IAGP |
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HPO |
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ORPHA:261183 |
NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
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G |
NIPA2 |
NIPA magnesium transporter 2 |
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IAGP |
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HPO |
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ORPHA:261183 |
NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362
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G |
NKX2-5 |
NK2 homeobox 5 |
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IAGP |
DNA:mutations:multiple |
RGD |
PMID:15342699 |
RGD:1581132 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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G |
NKX2-6 |
NK2 homeobox 6 |
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IAGP |
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HPO |
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ORPHA:3384 |
NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
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G |
NME5 |
NME/NM23 family member 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
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G |
NME8 |
NME/NM23 family member 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
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G |
NODAL |
nodal growth differentiation factor |
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IAGP |
ClinVar Annotator: match by term: congenital heart defects |
HPO ClinVar |
PMID:1135141 |
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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G |
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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G |
NPPA |
natriuretic peptide A |
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IAGP |
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HPO |
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ORPHA:1344 |
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
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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G |
NUP188 |
nucleoporin 188 |
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IAGP |
DNA:frameshift mutations, nonsense mutations:CDS:multiple |
RGD |
PMID:32275884 |
RGD:243048418 |
NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096
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G |
ODAD1 |
outer dynein arm docking complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
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G |
ODAD2 |
outer dynein arm docking complex subunit 2 |
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IAGP |
|
HPO |
|
ORPHA:244 |
NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
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G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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G |
ODAD4 |
outer dynein arm docking complex subunit 4 |
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IAGP |
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HPO |
|
ORPHA:244 |
NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
|
HPO |
|
MIM:311200 ORPHA:244 ORPHA:2754 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
PAH |
phenylalanine hydroxylase |
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IAGP |
|
HPO |
|
ORPHA:2209 |
NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
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G |
PBX1 |
PBX homeobox 1 |
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IAGP |
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HPO |
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MIM:617641 |
NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
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PDE6D |
phosphodiesterase 6D |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
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PDX1 |
pancreatic and duodenal homeobox 1 |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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MIM:214110 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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G |
PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
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IAGP |
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HPO |
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ORPHA:369837 |
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
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G |
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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G |
PLAGL1 |
PLAG1 like zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:99886 |
NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599
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G |
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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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:79401 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PLXND1 |
plexin D1 |
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IAGP |
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HPO |
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ORPHA:3384 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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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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PPP2R5D |
protein phosphatase 2 regulatory subunit B'delta |
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IAGP |
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HPO |
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ORPHA:457279 |
NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
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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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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
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HPO |
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ORPHA:508488 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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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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ORPHA:314655 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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RAC1 |
Rac family small GTPase 1 |
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IAGP |
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HPO |
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ORPHA:500159 |
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RAD51C |
RAD51 paralog C |
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IAGP |
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HPO |
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MIM:613390 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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MIM:182290 ORPHA:477817 ORPHA:819 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RASA1 |
RAS p21 protein activator 1 |
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IAGP |
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HPO |
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ORPHA:137667 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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MIM:218600 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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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:494344 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RIT1 |
Ras like without CAAX 1 |
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IAGP |
DNA:missense mutations:exon:multiple (human) DNA:missense mutation:exon:multiple 9human) |
RGD |
PMID:26757980 PMID:26714497 |
RGD:11097409, RGD:11086309 |
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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RLIM |
ring finger protein, LIM domain interacting |
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IAGP |
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HPO |
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MIM:300978 |
NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624
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RNF41 |
ring finger protein 41 |
susceptibility |
IAGP |
DNA:SNP:exon 2:c.-206T>A (human) |
RGD |
PMID:27323192 |
RGD:401827148 |
NCBI chr12:56,202,179...56,221,969
Ensembl chr12:56,202,179...56,221,933
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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MIM:268310 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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RPL11 |
ribosomal protein L11 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
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RPL15 |
ribosomal protein L15 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
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RPL18 |
ribosomal protein L18 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
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RPL26 |
ribosomal protein L26 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
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RPL27 |
ribosomal protein L27 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
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RPL31 |
ribosomal protein L31 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
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RPL35 |
ribosomal protein L35 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
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RPL35A |
ribosomal protein L35a |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
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RPL5 |
ribosomal protein L5 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
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RPL8 |
ribosomal protein L8 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587
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RPL9 |
ribosomal protein L9 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931
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G |
RPS10 |
ribosomal protein S10 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
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G |
RPS15A |
ribosomal protein S15a |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
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G |
RPS17 |
ribosomal protein S17 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
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G |
RPS19 |
ribosomal protein S19 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
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G |
RPS20 |
ribosomal protein S20 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
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G |
RPS24 |
ribosomal protein S24 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
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G |
RPS26 |
ribosomal protein S26 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
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G |
RPS27 |
ribosomal protein S27 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
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G |
RPS28 |
ribosomal protein S28 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
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G |
RPS29 |
ribosomal protein S29 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
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G |
RPS7 |
ribosomal protein S7 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
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G |
RSPH1 |
radial spoke head component 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
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G |
RSPH3 |
radial spoke head 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202
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G |
RSPH4A |
radial spoke head component 4A |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
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G |
RSPH9 |
radial spoke head component 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
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G |
RTL1 |
retrotransposon Gag like 1 |
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IAGP |
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HPO |
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ORPHA:254525 ORPHA:254534 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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G |
SBDS |
SBDS ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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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 |
SCN5A |
sodium voltage-gated channel alpha subunit 5 |
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IAGP |
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HPO |
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ORPHA:1344 |
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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G |
SCYL2 |
SCY1 like pseudokinase 2 |
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IAGP |
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HPO |
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ORPHA:1143 |
NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715
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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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SELENON |
selenoprotein N |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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G |
SETBP1 |
SET binding protein 1 |
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IAGP |
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HPO |
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ORPHA:798 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SETD5 |
SET domain containing 5 |
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IAGP |
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HPO |
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ORPHA:404440 |
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
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G |
SH2B1 |
SH2B adaptor protein 1 |
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IAGP |
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HPO |
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ORPHA:261197 |
NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
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G |
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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G |
SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
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ORPHA:94065 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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G |
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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SKIC2 |
SKI2 subunit of superkiller complex |
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IAGP |
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HPO |
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ORPHA:84064 |
NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
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G |
SKIC3 |
SKI3 subunit of superkiller complex |
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IAGP |
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HPO |
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ORPHA:84064 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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G |
SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
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HPO |
|
MIM:612289 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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G |
SLC35A2 |
solute carrier family 35 member A2 |
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IAGP |
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HPO |
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ORPHA:356961 |
NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958
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G |
SLC7A7 |
solute carrier family 7 member 7 |
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IAGP |
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HPO |
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ORPHA:470 |
NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
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G |
SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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ORPHA:284984 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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G |
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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ORPHA:1465 |
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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G |
SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
|
HPO |
|
MIM:614608 ORPHA:1465 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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G |
SMARCC2 |
SWI/SNF related BAF chromatin remodeling complex subunit C2 |
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IAGP |
|
HPO |
|
ORPHA:1465 |
NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
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G |
SMARCD1 |
SWI/SNF related BAF chromatin remodeling complex subunit D1 |
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IAGP |
|
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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G |
SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
|
HPO |
|
ORPHA:1465 |
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 |
|
HPO |
|
ORPHA:220386 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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G |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
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IAGP |
|
HPO |
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ORPHA:177907 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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SON |
SON DNA and RNA binding protein |
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IAGP |
|
HPO |
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ORPHA:500150 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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IAGP |
DNA:mutations:multiple (human) |
RGD |
PMID:21387466 |
RGD:11062210 |
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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G |
SOX11 |
SRY-box transcription factor 11 |
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IAGP |
|
HPO |
|
ORPHA:1465 |
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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G |
SOX4 |
SRY-box transcription factor 4 |
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IAGP |
|
HPO |
|
ORPHA:1465 |
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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G |
SOX9 |
SRY-box transcription factor 9 |
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IAGP |
|
HPO |
|
MIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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G |
SPAG1 |
sperm associated antigen 1 |
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IAGP |
|
HPO |
|
ORPHA:244 |
NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
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G |
SPEF2 |
sperm flagellar 2 |
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IAGP |
|
HPO |
|
ORPHA:244 |
NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
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G |
STAG2 |
STAG2 cohesin complex component |
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IAGP |
|
HPO |
|
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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G |
STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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ORPHA:99885 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STIL |
STIL centriolar assembly protein |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
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STK36 |
serine/threonine kinase 36 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
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G |
TBX1 |
T-box transcription factor 1 |
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IAGP |
DNA:missense mutation:CDS:p.P190Q |
HPO RGD |
PMID:29596833 |
ORPHA:3384, RGD:155663346 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TBX20 |
T-box transcription factor 20 |
susceptibility |
IAGP |
DNA:SNPs:exon5: c.657A>C (rs3999941) |
RGD |
PMID:27034249 PMID:25487630 |
RGD:155882589, RGD:155882596 |
NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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MIM:154500 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TCTN3 |
tectonic family member 3 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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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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THOC6 |
THO complex subunit 6 |
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IAGP |
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HPO |
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ORPHA:363444 |
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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TKT |
transketolase |
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IAGP |
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HPO |
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ORPHA:488618 |
NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052
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TMEM126B |
transmembrane protein 126B |
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IAGP |
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HPO |
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MIM:618250 |
NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539
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TMEM216 |
transmembrane protein 216 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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TMEM231 |
transmembrane protein 231 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
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TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
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TPM2 |
tropomyosin 2 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TPM3 |
tropomyosin 3 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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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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TSR2 |
TSR2 ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032
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TTC12 |
tetratricopeptide repeat domain 12 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
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G |
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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TUBG1 |
tubulin gamma 1 |
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IAGP |
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HPO |
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ORPHA:261183 |
NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238
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TWIST1 |
twist family bHLH transcription factor 1 |
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IAGP |
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HPO |
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MIM:101400 ORPHA:794 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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ORPHA:505248 |
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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WAC |
WW domain containing adaptor with coiled-coil |
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IAGP |
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HPO |
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ORPHA:284169 |
NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112
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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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ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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MIM:235730 ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZFP57 |
ZFP57 zinc finger protein |
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IAGP |
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HPO |
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ORPHA:99886 |
NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155
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ZIC2 |
Zic family member 2 |
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IAGP |
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HPO |
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ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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ZMYM3 |
zinc finger MYM-type containing 3 |
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IAGP |
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HPO |
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MIM:301111 |
NCBI chr X:71,239,624...71,255,290
Ensembl chr X:71,239,624...71,255,146
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ZMYND10 |
zinc finger MYND-type containing 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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ZNF462 |
zinc finger protein 462 |
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IAGP |
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HPO |
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ORPHA:502430 |
NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
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PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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IAGP |
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HPO |
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ORPHA:2461 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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ACSL4 |
acyl-CoA synthetase long chain family member 4 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:109,641,335...109,733,257
Ensembl chr X:109,624,244...109,733,403
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G |
AMMECR1 |
AMMECR nuclear protein 1 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
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G |
ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:613707 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:138 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
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HPO |
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ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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G |
COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
FANCA |
FA complementation group A |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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G |
FANCB |
FA complementation group B |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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G |
FANCC |
FA complementation group C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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G |
FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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G |
FANCE |
FA complementation group E |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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G |
FANCF |
FA complementation group F |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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G |
FANCG |
FA complementation group G |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
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G |
FANCI |
FA complementation group I |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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G |
FANCL |
FA complementation group L |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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G |
FANCM |
FA complementation group M |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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G |
FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:2462 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
GLA |
galactosidase alpha |
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IAGP |
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HPO |
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ORPHA:324 |
NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012
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G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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ORPHA:576 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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G |
HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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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 |
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 |
JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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G |
KCNE5 |
potassium voltage-gated channel subfamily E regulatory subunit 5 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172
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G |
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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G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
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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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MIM:615280 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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G |
MLX |
MAX dimerization protein MLX |
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IAGP |
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HPO |
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ORPHA:3287 |
NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
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G |
MMP21 |
matrix metallopeptidase 21 |
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IAGP |
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HPO |
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MIM:616749 |
NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821
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G |
MYH3 |
myosin heavy chain 3 |
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IAGP |
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HPO |
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ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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G |
RAD51 |
RAD51 recombinase |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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G |
RAD51C |
RAD51 paralog C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
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G |
RFWD3 |
ring finger and WD repeat domain 3 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
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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 |
RREB1 |
ras responsive element binding protein 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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G |
SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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G |
SEMA3E |
semaphorin 3E |
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IAGP |
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HPO |
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ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
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G |
SH2B1 |
SH2B adaptor protein 1 |
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IAGP |
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HPO |
|
ORPHA:261197 |
NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
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G |
SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:2462 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
|
IAGP |
ClinVar Annotator: match by term: Abnormality of the aortic valve |
ClinVar |
PMID:17143282 PMID:17586837 PMID:18854871 PMID:19352411 PMID:20133692 PMID:21340158 PMID:21387466 PMID:22190897 PMID:22465605 PMID:23487764 PMID:24033266 PMID:24803665 PMID:25741868 PMID:26607044 PMID:28492532 PMID:29493581 PMID:33128510 PMID:33771761 More...
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NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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G |
TBX1 |
T-box transcription factor 1 |
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IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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G |
TMEM70 |
transmembrane protein 70 |
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IAGP |
|
HPO |
|
ORPHA:1194 |
NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
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G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
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IAGP |
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HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
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G |
UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
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HPO |
|
ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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G |
XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
|
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 |
CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
|
ORPHA:244 |
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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G |
CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
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CCDC65 |
coiled-coil domain containing 65 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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G |
CCNO |
cyclin O |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
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G |
CFAP221 |
cilia and flagella associated protein 221 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
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G |
CFAP298 |
cilia and flagella associated protein 298 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
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G |
CFAP300 |
cilia and flagella associated protein 300 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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G |
CFAP74 |
cilia and flagella associated protein 74 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
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G |
DNAAF1 |
dynein axonemal assembly factor 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
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G |
DNAAF11 |
dynein axonemal assembly factor 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
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G |
DNAAF19 |
dynein axonemal assembly factor 19 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
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G |
DNAAF2 |
dynein axonemal assembly factor 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
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G |
DNAAF3 |
dynein axonemal assembly factor 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
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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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ORPHA:244 |
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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G |
DNAAF5 |
dynein axonemal assembly factor 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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G |
DNAAF6 |
dynein axonemal assembly factor 6 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:107,206,611...107,244,247
Ensembl chr X:107,206,611...107,244,247
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G |
DNAH1 |
dynein axonemal heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
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G |
DNAH11 |
dynein axonemal heavy chain 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
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G |
DNAH5 |
dynein axonemal heavy chain 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
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G |
DNAH9 |
dynein axonemal heavy chain 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
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G |
DNAI1 |
dynein axonemal intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
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G |
DNAI2 |
dynein axonemal intermediate chain 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
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G |
DNAJB13 |
DnaJ heat shock protein family (Hsp40) member B13 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
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G |
DNAL1 |
dynein axonemal light chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
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G |
DRC1 |
dynein regulatory complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
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G |
FOXJ1 |
forkhead box J1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
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G |
GAS2L2 |
growth arrest specific 2 like 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
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G |
GAS8 |
growth arrest specific 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
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G |
HYDIN |
HYDIN axonemal central pair apparatus protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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G |
LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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G |
MCIDAS |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
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G |
NEK10 |
NIMA related kinase 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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G |
NME5 |
NME/NM23 family member 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
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G |
NME8 |
NME/NM23 family member 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
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G |
ODAD1 |
outer dynein arm docking complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
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G |
ODAD2 |
outer dynein arm docking complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
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G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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G |
ODAD4 |
outer dynein arm docking complex subunit 4 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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G |
RSPH1 |
radial spoke head component 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
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G |
RSPH3 |
radial spoke head 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202
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G |
RSPH4A |
radial spoke head component 4A |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
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G |
RSPH9 |
radial spoke head component 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
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G |
SPAG1 |
sperm associated antigen 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
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G |
SPEF2 |
sperm flagellar 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
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G |
STK36 |
serine/threonine kinase 36 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
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G |
TTC12 |
tetratricopeptide repeat domain 12 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
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G |
ZMYND10 |
zinc finger MYND-type containing 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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G |
CYP27A1 |
cytochrome P450 family 27 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:909 |
NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
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G |
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 |
AKT3 |
AKT serine/threonine kinase 3 |
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IAGP |
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HPO |
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ORPHA:83473 |
NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:97297 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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G |
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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G |
BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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ORPHA:2712 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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G |
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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G |
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 |
CCND2 |
cyclin D2 |
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IAGP |
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HPO |
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ORPHA:83473 |
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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G |
CCNQ |
cyclin Q |
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IAGP |
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HPO |
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ORPHA:140952 |
NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045
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G |
CDC42 |
cell division cycle 42 |
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IAGP |
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HPO |
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MIM:616737 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:138 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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G |
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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G |
COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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G |
CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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G |
CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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G |
DACT1 |
dishevelled binding antagonist of beta catenin 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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G |
DDX3X |
DEAD-box helicase 3 X-linked |
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IAGP |
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HPO |
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ORPHA:3338 |
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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G |
DMPK |
DM1 protein kinase |
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IAGP |
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HPO |
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ORPHA:589821 |
NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552
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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 |
EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:96147 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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G |
EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
|
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 |
|
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 |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
FANCA |
FA complementation group A |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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G |
FANCB |
FA complementation group B |
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IAGP |
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HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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G |
FANCC |
FA complementation group C |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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G |
FANCD2 |
FA complementation group D2 |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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G |
FANCE |
FA complementation group E |
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IAGP |
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HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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G |
FANCF |
FA complementation group F |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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G |
FANCG |
FA complementation group G |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
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G |
FANCI |
FA complementation group I |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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G |
FANCL |
FA complementation group L |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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G |
FANCM |
FA complementation group M |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
|
HPO |
|
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 |
FLNA |
filamin A |
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IAGP |
|
HPO |
|
ORPHA:2484 ORPHA:90652 ORPHA:99811 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
|
HPO |
|
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 |
GATA4 |
GATA binding protein 4 |
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IAGP |
|
HPO |
|
ORPHA:251071 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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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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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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HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
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IAGP |
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HPO |
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ORPHA:238769 |
NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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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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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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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KIF7 |
kinesin family member 7 |
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IAGP |
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HPO |
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MIM:200990 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G |
LIMK1 |
LIM domain kinase 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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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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G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
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MCTP2 |
multiple C2 and transmembrane domain containing 2 |
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IAGP |
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HPO |
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ORPHA:1596 |
NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
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METTL27 |
methyltransferase like 27 |
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IAGP |
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HPO |
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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 |
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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MMP21 |
matrix metallopeptidase 21 |
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IAGP |
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HPO |
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MIM:616749 |
NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821
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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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MPL |
MPL proto-oncogene, thrombopoietin receptor |
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IAGP |
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HPO |
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ORPHA:3319 |
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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G |
MYH7 |
myosin heavy chain 7 |
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IAGP |
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HPO |
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ORPHA:1880 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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G |
MYMK |
myomaker, myoblast fusion factor |
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IAGP |
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HPO |
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MIM:254940 |
NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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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 |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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G |
NKX2-1 |
NK2 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:209905 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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G |
NKX2-5 |
NK2 homeobox 5 |
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IAGP |
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HPO |
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ORPHA:1479 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
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IAGP |
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HPO |
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MIM:308050 |
NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729
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G |
PACS1 |
phosphofurin acidic cluster sorting protein 1 |
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IAGP |
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HPO |
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MIM:615009 |
NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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G |
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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G |
PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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G |
PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
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IAGP |
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HPO |
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ORPHA:2059 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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G |
PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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IAGP |
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HPO |
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ORPHA:83473 |
NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540
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G |
POLR1A |
RNA polymerase I subunit A |
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IAGP |
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HPO |
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ORPHA:1200 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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G |
PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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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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G |
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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G |
RAD51 |
RAD51 recombinase |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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G |
RAD51C |
RAD51 paralog C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
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G |
RBM8A |
RNA binding motif protein 8A |
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IAGP |
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HPO |
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ORPHA:3320 |
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
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G |
RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:1225 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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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 |
RFWD3 |
ring finger and WD repeat domain 3 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
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G |
RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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G |
SALL1 |
spalt like transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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G |
SEMA3E |
semaphorin 3E |
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IAGP |
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HPO |
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ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
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G |
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 |
SLX4 |
SLX4 structure-specific endonuclease subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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G |
SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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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 |
STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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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 |
TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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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 |
THPO |
thrombopoietin |
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IAGP |
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HPO |
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ORPHA:3319 |
NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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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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G |
TXNL4A |
thioredoxin like 4A |
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IAGP |
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HPO |
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ORPHA:1200 |
NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
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G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
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G |
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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G |
UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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ORPHA:2315 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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G |
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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G |
XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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G |
FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:284979 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
PNPLA2 |
patatin like phospholipase domain containing 2 |
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IAGP |
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HPO |
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ORPHA:565612 |
NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:758 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
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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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:500 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
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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G |
CLEC7A |
C-type lectin domain containing 7A |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
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G |
CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
|
ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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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 |
EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
|
HPO |
|
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 |
|
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 |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:758 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
|
HPO |
|
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 |
GLA |
galactosidase alpha |
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IAGP |
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HPO |
|
ORPHA:324 |
NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012
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G |
GTF2I |
general transcription factor IIi |
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IAGP |
|
HPO |
|
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 |
|
HPO |
|
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 |
|
HPO |
|
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 |
HLA-B |
major histocompatibility complex, class I, B |
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IAGP |
|
HPO |
|
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 |
IL12B |
interleukin 12B |
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IAGP |
|
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 |
IL17F |
interleukin 17F |
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IAGP |
|
HPO |
|
ORPHA:1334 |
NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
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G |
IL17RA |
interleukin 17 receptor A |
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IAGP |
|
HPO |
|
ORPHA:1334 |
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
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G |
IL17RC |
interleukin 17 receptor C |
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IAGP |
|
HPO |
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ORPHA:1334 |
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
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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 |
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 |
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 |
MYH7 |
myosin heavy chain 7 |
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IAGP |
|
HPO |
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ORPHA:1880 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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G |
NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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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 |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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ORPHA:500 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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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:500 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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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 |
STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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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 |
TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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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 |
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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G |
TRAF3IP2 |
TRAF3 interacting protein 2 |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
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G |
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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ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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ORPHA:1517 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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G |
ARF1 |
ARF GTPase 1 |
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IAGP |
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HPO |
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ORPHA:98892 |
NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212
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G |
ARFGEF2 |
ARF guanine nucleotide exchange factor 2 |
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IAGP |
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HPO |
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ORPHA:98892 |
NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693
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G |
BIN1 |
bridging integrator 1 |
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IAGP |
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HPO |
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ORPHA:169186 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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G |
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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G |
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 |
CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
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HPO |
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ORPHA:2953 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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G |
COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:230851 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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G |
CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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G |
DNASE1L3 |
deoxyribonuclease 1L3 |
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IAGP |
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HPO |
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ORPHA:36412 |
NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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G |
DSE |
dermatan sulfate epimerase |
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IAGP |
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HPO |
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ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
ERMARD |
ER membrane associated RNA degradation |
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IAGP |
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HPO |
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ORPHA:98892 |
NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600
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G |
EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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G |
FLNA |
filamin A |
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IAGP |
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HPO |
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ORPHA:90652 ORPHA:98892 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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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 |
GALNS |
galactosamine (N-acetyl)-6-sulfatase |
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IAGP |
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HPO |
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MIM:253000 |
NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GLB1 |
galactosidase beta 1 |
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IAGP |
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HPO |
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MIM:230500 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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G |
GLI1 |
GLI family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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G |
GUSB |
glucuronidase beta |
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IAGP |
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HPO |
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MIM:253220 |
NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
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G |
HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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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 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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G |
IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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MIM:309900 ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
IDUA |
alpha-L-iduronidase |
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IAGP |
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HPO |
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ORPHA:93473 ORPHA:93476 |
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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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 |
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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G |
KCNJ8 |
potassium inwardly rectifying channel subfamily J member 8 |
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IAGP |
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HPO |
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ORPHA:1517 |
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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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 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G |
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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G |
MAP1B |
microtubule associated protein 1B |
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IAGP |
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HPO |
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ORPHA:98892 |
NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
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G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
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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 |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
DNA:missense mutations, deletions:CDS:multiple |
RGD |
PMID:27426734 |
RGD:11552967 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
MLX |
MAX dimerization protein MLX |
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IAGP |
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HPO |
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ORPHA:3287 |
NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
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G |
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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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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ORPHA:98892 |
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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G |
NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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G |
NKX2-6 |
NK2 homeobox 6 |
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IAGP |
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HPO |
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ORPHA:3384 |
NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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G |
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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G |
PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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G |
PLXND1 |
plexin D1 |
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IAGP |
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HPO |
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ORPHA:3384 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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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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G |
PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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G |
PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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G |
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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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 |
RYR1 |
ryanodine receptor 1 |
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IAGP |
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HPO |
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ORPHA:169186 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G |
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 |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:77293 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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G |
SPEG |
striated muscle enriched protein kinase |
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IAGP |
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HPO |
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ORPHA:169186 |
NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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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 |
TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:3384 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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G |
TMTC3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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IAGP |
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HPO |
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ORPHA:98892 |
NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
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G |
TTN |
titin |
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IAGP |
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HPO |
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ORPHA:169186 |
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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G |
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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G |
DSC2 |
desmocollin 2 |
susceptibility |
IAGP |
DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human) |
RGD |
PMID:25497880 |
RGD:243065272 |
NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
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G |
MYOCD |
myocardin |
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IAGP |
DNA:SNPs:promoter:-435T>C (rs758187), -629A>T (rs8071072)(human) |
RGD |
PMID:18028454 |
RGD:401793753 |
NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
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G |
NONO |
non-POU domain containing octamer binding |
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IAGP |
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HPO |
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ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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G |
ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
|
HPO |
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ORPHA:79328 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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G |
GATA5 |
GATA binding protein 5 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
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G |
NKX2-5 |
NK2 homeobox 5 |
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IAGP |
|
HPO |
|
ORPHA:402075 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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G |
NOTCH1 |
notch receptor 1 |
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IAGP |
|
HPO |
|
ORPHA:402075 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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G |
SMAD6 |
SMAD family member 6 |
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IAGP |
|
HPO |
|
ORPHA:402075 |
NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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G |
ACTC1 |
actin alpha cardiac muscle 1 |
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IAGP |
|
HPO |
|
ORPHA:99103 |
NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
MIM:613707 ORPHA:500 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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G |
CITED2 |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
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IAGP |
|
HPO |
|
ORPHA:99103 |
NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
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G |
DPYSL5 |
dihydropyrimidinase like 5 |
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IAGP |
|
HPO |
|
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 |
GATA4 |
GATA binding protein 4 |
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IAGP |
|
HPO |
|
ORPHA:99103 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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G |
GATA6 |
GATA binding protein 6 |
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IAGP |
|
HPO |
|
ORPHA:99103 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
|
HPO |
|
ORPHA:576 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
susceptibility |
IAGP |
DNA:polymorphism:cds:HLA-DRB1*13 |
RGD |
PMID:16426242 |
RGD:5147643 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
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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G |
MYH6 |
myosin heavy chain 6 |
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IAGP |
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HPO |
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ORPHA:99103 |
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
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G |
NKX2-5 |
NK2 homeobox 5 |
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IAGP |
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HPO |
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ORPHA:99103 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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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:500 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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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:500 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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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 |
TBX20 |
T-box transcription factor 20 |
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IAGP |
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HPO |
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ORPHA:99103 |
NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
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G |
TLL1 |
tolloid like 1 |
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IAGP |
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HPO |
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ORPHA:99103 |
NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
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G |
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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G |
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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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 |
JUP |
junction plakoglobin |
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IAGP |
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HPO |
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MIM:601214 |
NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
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C4A |
complement C4A (Chido/Rodgers blood group) |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
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G |
CCR1 |
C-C motif chemokine receptor 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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G |
CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:228308 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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G |
ERAP1 |
endoplasmic reticulum aminopeptidase 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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G |
FAS |
Fas cell surface death receptor |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GLA |
galactosidase alpha |
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IAGP |
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HPO |
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ORPHA:324 |
NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012
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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:117 ORPHA:36426 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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G |
IFNGR1 |
interferon gamma receptor 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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G |
IKZF1 |
IKAROS family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:36426 |
NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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G |
IL10 |
interleukin 10 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
IL12A |
interleukin 12A |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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G |
IL12A-AS1 |
IL12A antisense RNA 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966
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G |
IL23R |
interleukin 23 receptor |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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G |
KLRC4 |
killer cell lectin like receptor C4 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:300751 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
SLC2A10 |
solute carrier family 2 member 10 |
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IAGP |
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HPO |
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ORPHA:3342 |
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
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G |
STAT4 |
signal transducer and activator of transcription 4 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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G |
TLR4 |
toll like receptor 4 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
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IAGP |
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HPO |
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ORPHA:32960 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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G |
UBAC2 |
UBA domain containing 2 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
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G |
ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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ORPHA:100075 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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G |
ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:500 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
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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G |
CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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G |
COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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G |
DACT1 |
dishevelled binding antagonist of beta catenin 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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G |
DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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G |
DOCK6 |
dedicator of cytokinesis 6 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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ORPHA:268261 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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G |
EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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G |
HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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G |
IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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G |
KIF7 |
kinesin family member 7 |
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IAGP |
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HPO |
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MIM:200990 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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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:648 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
MRAS |
muscle RAS oncogene homolog |
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IAGP |
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HPO |
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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 |
NKX2-5 |
NK2 homeobox 5 |
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IAGP |
DNA:missense mutations:cds:multiple |
RGD |
PMID:11714651 |
RGD:1581133 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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G |
NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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G |
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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G |
NXN |
nucleoredoxin |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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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:500 ORPHA:648 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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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:500 ORPHA:648 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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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 |
RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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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 |
RNF135 |
ring finger protein 135 |
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IAGP |
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HPO |
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ORPHA:137634 |
NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911
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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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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 |
RREB1 |
ras responsive element binding protein 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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G |
SALL1 |
spalt like transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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G |
SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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G |
SNX10 |
sorting nexin 10 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
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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 |
SPRED2 |
sprouty related EVH1 domain containing 2 |
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IAGP |
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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 |
TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G |
TMEM70 |
transmembrane protein 70 |
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IAGP |
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HPO |
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ORPHA:1194 |
NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
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G |
TNFSF11 |
TNF superfamily member 11 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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G |
UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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G |
FIBP |
FGF1 intracellular binding protein |
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IAGP |
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HPO |
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ORPHA:500095 |
NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
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G |
AGGF1 |
angiogenic factor with G-patch and FHA domains 1 |
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IAGP |
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HPO |
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ORPHA:90308 |
NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234
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G |
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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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 |
IDS |
iduronate 2-sulfatase |
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IAGP |
|
HPO |
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ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
MMP21 |
matrix metallopeptidase 21 |
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IAGP |
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HPO |
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MIM:616749 |
NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821
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G |
NXN |
nucleoredoxin |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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G |
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:90308 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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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 |
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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G |
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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FLT4 |
fms related receptor tyrosine kinase 4 |
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IAGP |
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HPO |
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MIM:618780 |
NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
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FOXP1 |
forkhead box P1 |
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IAGP |
ClinVar Annotator: match by term: Aortic valve atresia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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G |
LRPPRC |
leucine rich pentatricopeptide repeat containing |
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IAGP |
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HPO |
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MIM:220111 |
NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
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G |
NKX2-5 |
NK2 homeobox 5 |
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IAGP |
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HPO |
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MIM:614435 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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G |
PLCH1 |
phospholipase C eta 1 |
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IAGP |
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HPO |
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MIM:619895 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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GATA5 |
GATA binding protein 5 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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MIM:231005 ORPHA:2072 ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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MIM:203500 ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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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:182250 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:740 ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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NKX2-5 |
NK2 homeobox 5 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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MIM:109730 ORPHA:402075 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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RIGI |
RNA sensor RIG-I |
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IAGP |
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HPO |
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MIM:616298 |
NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348
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SMAD6 |
SMAD family member 6 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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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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FHOD3 |
formin homology 2 domain containing 3 |
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IAGP |
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HPO |
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MIM:619402 |
NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220
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G |
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