Term: | Ventricular septal defect |
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Accession: | HP:0001629
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browse the term
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Definition: | A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. |
Synonyms: | exact_synonym: | Hole in heart wall separating two lower heart chambers; VSD; Ventricular septal defects; Ventriculoseptal defect |
| alt_id: | HP:0001652 |
| xref: | Fyler:1300; SNOMEDCT_US:253549006; SNOMEDCT_US:30288003; UMLS:C0018818 |
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AARS1 |
alanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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IAGP |
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HPO |
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MIM:617602 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACADVL |
acyl-CoA dehydrogenase very long chain |
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IAGP |
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HPO |
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ORPHA:26793 |
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
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ACVR2B |
activin A receptor type 2B |
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IAGP |
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HPO |
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MIM:613751 |
NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
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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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ADAMTS10 |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
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IAGP |
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HPO |
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MIM:277600 ORPHA:3449 |
NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
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ADAMTS17 |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
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IAGP |
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HPO |
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ORPHA:3449 |
NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005
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AFF4 |
ALF transcription elongation factor 4 |
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IAGP |
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HPO |
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MIM:616368 ORPHA:444077 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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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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ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
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IAGP |
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HPO |
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MIM:620025 |
NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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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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ALKBH8 |
alkB homolog 8, tRNA methyltransferase |
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IAGP |
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HPO |
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MIM:618504 |
NCBI chr11:107,502,727...107,565,735
Ensembl chr11:107,502,727...107,565,742
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AMER1 |
APC membrane recruitment protein 1 |
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IAGP |
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HPO |
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MIM:300373 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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ANKRD11 |
ankyrin repeat domain containing 11 |
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IAGP |
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HPO |
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ORPHA:261250 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
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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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ARCN1 |
archain 1 |
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IAGP |
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HPO |
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MIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
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ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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MIM:100300 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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ARID1A |
AT-rich interaction domain 1A |
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IAGP |
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HPO |
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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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MIM:135900 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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ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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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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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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ORPHA:1934 ORPHA:452 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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MIM:605039 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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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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ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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MIM:617403 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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MIM:301040 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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AXIN1 |
axin 1 |
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IAGP |
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HPO |
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MIM:620558 |
NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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MIM:271640 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:261540 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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MIM:619762 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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MIM:300166 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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BCR |
BCR activator of RhoGEF and GTPase |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar HPO |
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
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MIM:163950 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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MIM:620568 ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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BRF1 |
BRF1 general transcription factor IIIB subunit |
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IAGP |
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HPO |
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MIM:616202 ORPHA:444072 |
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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C2CD3 |
C2 domain containing 3 centriole elongation regulator |
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IAGP |
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HPO |
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MIM:615948 ORPHA:434179 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
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CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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IAGP |
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HPO |
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MIM:601005 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
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IAGP |
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HPO |
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MIM:615474 ORPHA:369929 |
NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
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CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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IAGP |
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HPO |
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MIM:617798 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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CANT1 |
calcium activated nucleotidase 1 |
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IAGP |
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HPO |
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ORPHA:1425 |
NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
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CARS1 |
cysteinyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CCBE1 |
collagen and calcium binding EGF domains 1 |
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IAGP |
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HPO |
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MIM:235510 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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CCDC174 |
coiled-coil domain containing 174 |
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IAGP |
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HPO |
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MIM:616816 |
NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659
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CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
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HPO |
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MIM:300963 ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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CCDC32 |
coiled-coil domain containing 32 |
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IAGP |
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HPO |
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MIM:619123 |
NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
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CCDC47 |
coiled-coil domain containing 47 |
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IAGP |
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HPO |
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MIM:618268 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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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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CD96 |
CD96 molecule |
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IAGP |
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HPO |
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MIM:211750 |
NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996
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CDC45 |
cell division cycle 45 |
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IAGP |
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HPO |
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MIM:617063 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
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CDK13 |
cyclin dependent kinase 13 |
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IAGP |
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HPO |
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MIM:617360 |
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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CDK8 |
cyclin dependent kinase 8 |
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IAGP |
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HPO |
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MIM:618748 |
NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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MIM:611134 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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CEP57 |
centrosomal protein 57 |
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IAGP |
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HPO |
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MIM:614114 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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CHD4 |
chromodomain helicase DNA binding protein 4 |
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IAGP |
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HPO |
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MIM:617159 |
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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MIM:214800 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CHMP1A |
charged multivesicular body protein 1A |
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IAGP |
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HPO |
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MIM:614961 |
NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738
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CHRM3 |
cholinergic receptor muscarinic 3 |
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IAGP |
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HPO |
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ORPHA:2970 |
NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
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CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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MIM:143095 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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CIROP |
ciliated left-right organizer metallopeptidase |
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IAGP |
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HPO |
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MIM:619702 |
NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989
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CKAP2L |
cytoskeleton associated protein 2 like |
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IAGP |
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HPO |
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MIM:272440 ORPHA:3255 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
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CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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COG6 |
component of oligomeric golgi complex 6 |
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IAGP |
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HPO |
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MIM:614576 |
NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666
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COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar |
PMID:28492532 PMID:30311386 |
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NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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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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COQ4 |
coenzyme Q4 |
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IAGP |
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HPO |
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MIM:616276 |
NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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MIM:309801 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CRB2 |
crumbs cell polarity complex component 2 |
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IAGP |
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HPO |
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MIM:219730 |
NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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MIM:180849 ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CRKL |
CRK like proto-oncogene, adaptor protein |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
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CSGALNACT1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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IAGP |
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HPO |
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MIM:618870 ORPHA:1425 |
NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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MIM:615502 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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CTU2 |
cytosolic thiouridylase subunit 2 |
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IAGP |
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HPO |
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MIM:618142 |
NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
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CUX1 |
cut like homeobox 1 |
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IAGP |
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HPO |
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MIM:618330 |
NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
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CWC27 |
CWC27 spliceosome associated cyclophilin |
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IAGP |
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HPO |
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MIM:250410 ORPHA:166035 |
NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412
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DAW1 |
dynein assembly factor with WD repeats 1 |
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IAGP |
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HPO |
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MIM:620570 |
NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344
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DDX11 |
DEAD/H-box helicase 11 |
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IAGP |
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HPO |
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MIM:613398 |
NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799
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DDX59 |
DEAD-box helicase 59 |
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IAGP |
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HPO |
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MIM:174300 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
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DGCR2 |
DiGeorge syndrome critical region gene 2 |
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IAGP |
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HPO |
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MIM:192430 |
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
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DGCR6 |
DiGeorge syndrome critical region gene 6 |
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IAGP |
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HPO |
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MIM:192430 |
NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
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DGCR8 |
DGCR8 microprocessor complex subunit |
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IAGP |
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HPO |
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MIM:192430 |
NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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MIM:270400 ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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DLG5 |
discs large MAGUK scaffold protein 5 |
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IAGP |
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HPO |
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MIM:620703 |
NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,791...77,926,755
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G |
DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:254534 ORPHA:96334 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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MIM:616589 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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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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DNMT3A |
DNA methyltransferase 3 alpha |
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IAGP |
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HPO |
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MIM:615879 |
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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DOHH |
deoxyhypusine hydroxylase |
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IAGP |
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HPO |
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MIM:620066 |
NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674
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DPF2 |
double PHD fingers 2 |
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IAGP |
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HPO |
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MIM:618027 ORPHA:1465 |
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPH1 |
diphthamide biosynthesis 1 |
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IAGP |
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HPO |
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MIM:616901 |
NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898
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G |
DPH2 |
diphthamide biosynthesis 2 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar |
PMID:32576952 |
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NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
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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 |
DST |
dystonin |
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IAGP |
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HPO |
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MIM:614653 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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G |
DTNA |
dystrobrevin alpha |
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IAGP |
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HPO |
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MIM:604169 |
NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844
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G |
DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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MIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
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HPO |
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MIM:616894 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
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HPO |
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MIM:615503 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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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 |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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ORPHA:268261 ORPHA:464311 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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G |
ECE1 |
endothelin converting enzyme 1 |
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IAGP |
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HPO |
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MIM:613870 |
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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G |
ECHS1 |
enoyl-CoA hydratase, short chain 1 |
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IAGP |
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HPO |
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MIM:616277 |
NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354
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EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
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IAGP |
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HPO |
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MIM:610536 |
NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
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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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MIM:610253 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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G |
EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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G |
ELN |
elastin |
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IAGP |
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HPO |
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MIM:123700 MIM:194050 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 |
EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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MIM:615297 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:180849 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
ERBB3 |
erb-b2 receptor tyrosine kinase 3 |
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IAGP |
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HPO |
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MIM:607598 |
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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G |
ERF |
ETS2 repressor factor |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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G |
ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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MIM:620663 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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MIM:268300 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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G |
ESS2 |
ess-2 splicing factor homolog |
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IAGP |
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HPO |
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MIM:192430 |
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
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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 |
EXOC2 |
exocyst complex component 2 |
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IAGP |
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HPO |
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MIM:619306 |
NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
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G |
EXT2 |
exostosin glycosyltransferase 2 |
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IAGP |
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HPO |
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MIM:616682 |
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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G |
FADD |
Fas associated via death domain |
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IAGP |
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HPO |
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MIM:613759 ORPHA:306550 |
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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G |
FANCB |
FA complementation group B |
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IAGP |
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HPO |
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MIM:300514 |
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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MIM:227645 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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G |
FANCI |
FA complementation group I |
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IAGP |
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HPO |
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MIM:609053 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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G |
FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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MIM:608328 ORPHA:3449 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
FBN2 |
fibrillin 2 |
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IAGP |
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HPO |
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MIM:121050 |
NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:613001 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:101200 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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G |
FIBP |
FGF1 intracellular binding protein |
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IAGP |
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HPO |
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MIM:617107 ORPHA:500095 |
NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
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G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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MIM:216340 ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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G |
FILIP1 |
filamin A interacting protein 1 |
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IAGP |
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HPO |
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MIM:620775 |
NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800
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G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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G |
FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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IAGP |
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HPO |
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ORPHA:2308 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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G |
FLNA |
filamin A |
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IAGP |
ClinVar Annotator: match by term: Ventriculoseptal defect |
ClinVar |
PMID:28492532 |
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NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
FLNB |
filamin B |
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IAGP |
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HPO |
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MIM:150250 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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G |
FOCAD |
focadhesin |
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IAGP |
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HPO |
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MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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G |
FOXC2 |
forkhead box C2 |
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IAGP |
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HPO |
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MIM:153400 |
NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
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G |
FOXF1 |
forkhead box F1 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar HPO |
PMID:25741868 |
MIM:265380 ORPHA:210122 |
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
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G |
FOXP4 |
forkhead box P4 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384
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G |
FRA10AC1 |
FRA10A associated CGG repeat 1 |
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IAGP |
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HPO |
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MIM:620113 |
NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592
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G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
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IAGP |
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HPO |
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MIM:612938 |
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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G |
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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G |
GATA4 |
GATA binding protein 4 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar HPO |
PMID:25741868 PMID:28492532 PMID:30755392 |
MIM:607941 MIM:614429 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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G |
GATA5 |
GATA binding protein 5 |
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IAGP |
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HPO |
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MIM:617912 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
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G |
GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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MIM:600001 ORPHA:2255 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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G |
GDF1 |
growth differentiation factor 1 |
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IAGP |
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HPO |
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MIM:208530 MIM:613854 |
NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
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G |
GDF3 |
growth differentiation factor 3 |
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IAGP |
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HPO |
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ORPHA:2345 |
NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
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G |
GDF6 |
growth differentiation factor 6 |
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IAGP |
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HPO |
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ORPHA:2345 |
NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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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 |
GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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MIM:146510 ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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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 |
GPC3 |
glypican 3 |
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IAGP |
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HPO |
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MIM:312870 ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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G |
GPC4 |
glypican 4 |
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IAGP |
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HPO |
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MIM:312870 ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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G |
GPC6 |
glypican 6 |
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IAGP |
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HPO |
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MIM:258315 |
NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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G |
GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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G |
GTF2E2 |
general transcription factor IIE subunit 2 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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G |
GTF2H5 |
general transcription factor IIH subunit 5 |
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IAGP |
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HPO |
|
ORPHA:33364 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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G |
GTF2I |
general transcription factor IIi |
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IAGP |
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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 |
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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 |
HCCS |
holocytochrome c synthase |
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IAGP |
|
HPO |
|
MIM:309801 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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G |
HDAC8 |
histone deacetylase 8 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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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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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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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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HNRNPR |
heterogeneous nuclear ribonucleoprotein R |
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IAGP |
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HPO |
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MIM:620073 |
NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336
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HOXA13 |
homeobox A13 |
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IAGP |
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HPO |
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ORPHA:2438 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:218040 ORPHA:3071 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
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IAGP |
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HPO |
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MIM:236680 |
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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HYMAI |
hydatidiform mole associated and imprinted |
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IAGP |
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HPO |
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ORPHA:96191 |
NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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MIM:615630 |
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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MIM:615996 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
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IFT56 |
intraflagellar transport 56 |
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IAGP |
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HPO |
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MIM:619534 |
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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IFT81 |
intraflagellar transport 81 |
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IAGP |
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HPO |
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MIM:617895 |
NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793
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IGBP1 |
immunoglobulin binding protein 1 |
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IAGP |
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HPO |
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MIM:300472 ORPHA:52055 |
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
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IGF1R |
insulin like growth factor 1 receptor |
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IAGP |
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HPO |
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MIM:270450 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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INSR |
insulin receptor |
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IAGP |
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HPO |
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ORPHA:769 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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IPO8 |
importin 8 |
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IAGP |
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HPO |
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MIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
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JAG1 |
jagged canonical Notch ligand 1 |
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IAGP |
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HPO |
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MIM:118450 MIM:617992 |
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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JAM3 |
junctional adhesion molecule 3 |
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IAGP |
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HPO |
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MIM:613730 |
NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001
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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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KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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MIM:610443 ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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KAT5 |
lysine acetyltransferase 5 |
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IAGP |
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HPO |
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MIM:619103 |
NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
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KAT6A |
lysine acetyltransferase 6A |
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IAGP |
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HPO |
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MIM:616268 ORPHA:457193 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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KAT6B |
lysine acetyltransferase 6B |
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IAGP |
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HPO |
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MIM:606170 ORPHA:3047 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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KAT8 |
lysine acetyltransferase 8 |
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IAGP |
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HPO |
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MIM:618974 |
NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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KDM3B |
lysine demethylase 3B |
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IAGP |
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HPO |
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MIM:618846 |
NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
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KDM5A |
lysine demethylase 5A |
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IAGP |
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HPO |
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MIM:620820 |
NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320
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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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KIFBP |
kinesin family binding protein |
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IAGP |
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HPO |
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MIM:609460 |
NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
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KLHL41 |
kelch like family member 41 |
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IAGP |
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HPO |
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MIM:615731 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
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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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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:609942 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:617021 |
NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:169400 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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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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MIM:194190 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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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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LOC126805726 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar |
PMID:32576952 |
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NCBI chr 1:43,971,353...43,972,882
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LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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MIM:600373 ORPHA:1458 ORPHA:79243 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRP2 |
LDL receptor related protein 2 |
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IAGP |
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HPO |
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MIM:222448 ORPHA:2143 |
NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
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LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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MIM:259770 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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LTBP2 |
latent transforming growth factor beta binding protein 2 |
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IAGP |
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HPO |
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ORPHA:3449 |
NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
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LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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MIM:605275 MIM:616564 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MACF1 |
microtubule actin crosslinking factor 1 |
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IAGP |
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HPO |
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MIM:618325 |
NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
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MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
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HPO |
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MIM:163950 MIM:615279 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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MIM:157800 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MAPK1 |
mitogen-activated protein kinase 1 |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MASP1 |
MBL associated serine protease 1 |
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IAGP |
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HPO |
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MIM:257920 |
NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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MIM:301068 MIM:309520 |
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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MED23 |
mediator complex subunit 23 |
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IAGP |
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HPO |
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MIM:614249 |
NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242
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MED25 |
mediator complex subunit 25 |
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IAGP |
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HPO |
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MIM:616449 ORPHA:464738 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
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MEG3 |
maternally expressed 3 |
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IAGP |
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HPO |
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ORPHA:254534 ORPHA:96334 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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MEIS2 |
Meis homeobox 2 |
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IAGP |
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HPO |
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MIM:600987 ORPHA:261190 |
NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
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MEOX1 |
mesenchyme homeobox 1 |
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IAGP |
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HPO |
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MIM:214300 ORPHA:2345 |
NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922
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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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MGAT2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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IAGP |
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HPO |
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MIM:212066 ORPHA:79329 |
NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
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MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 ORPHA:85202 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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MICU1 |
mitochondrial calcium uptake 1 |
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IAGP |
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HPO |
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MIM:615673 |
NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131
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MID1 |
midline 1 |
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IAGP |
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HPO |
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MIM:300000 ORPHA:2745 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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MIR17HG |
miR-17-92a-1 cluster host gene |
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IAGP |
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HPO |
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ORPHA:391646 |
NCBI chr13:91,347,687...91,354,577
Ensembl chr13:91,347,686...91,397,592
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MKKS |
MKKS centrosomal shuttling protein |
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IAGP |
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HPO |
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ORPHA:2473 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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MLXIPL |
MLX interacting protein like |
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IAGP |
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HPO |
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MIM:194050 |
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MMP14 |
matrix metallopeptidase 14 |
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IAGP |
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HPO |
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ORPHA:371428 |
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2 |
matrix metallopeptidase 2 |
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IAGP |
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HPO |
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ORPHA:371428 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MPLKIP |
M-phase specific PLK1 interacting protein |
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IAGP |
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HPO |
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MIM:234050 ORPHA:33364 |
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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MT-CYB |
mitochondrially encoded cytochrome b |
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IAGP |
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HPO |
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ORPHA:137675 |
NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
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MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
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IAGP |
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HPO |
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MIM:614947 |
NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
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MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
HPO ClinVar |
PMID:25741868 |
MIM:164280 MIM:620748 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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MYH3 |
myosin heavy chain 3 |
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IAGP |
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HPO |
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MIM:178110 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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MYOCD |
myocardin |
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IAGP |
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HPO |
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MIM:618719 |
NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
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MYRF |
myelin regulatory factor |
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IAGP |
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HPO |
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MIM:618280 |
NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
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NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
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HPO |
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MIM:300855 ORPHA:276432 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NAA20 |
N-alpha-acetyltransferase 20, NatB catalytic subunit |
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IAGP |
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HPO |
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MIM:619717 |
NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655
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NAE1 |
NEDD8 activating enzyme E1 subunit 1 |
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IAGP |
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HPO |
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MIM:620210 |
NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256
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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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NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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MIM:309801 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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MIM:617201 |
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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MIM:263520 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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NEK9 |
NIMA related kinase 9 |
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IAGP |
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HPO |
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MIM:614262 MIM:617022 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
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NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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MIM:162200 ORPHA:363700 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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MIM:602535 ORPHA:447980 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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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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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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NIPBL |
NIPBL cohesin loading factor |
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IAGP |
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HPO |
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MIM:122470 ORPHA:199 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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NKAP |
NFKB activating protein |
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IAGP |
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HPO |
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MIM:301039 |
NCBI chr X:119,920,672...119,943,751
Ensembl chr X:119,920,672...119,943,751
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NKX2-1 |
NK2 homeobox 1 |
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IAGP |
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HPO |
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MIM:610978 ORPHA:209905 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NKX2-5 |
NK2 homeobox 5 |
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IAGP |
DNA:missense mutations:cds:multiple |
HPO RGD |
PMID:11714651 |
MIM:108900 MIM:614432 MIM:614435, RGD:1581133 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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NKX2-6 |
NK2 homeobox 6 |
susceptibility |
IAGP |
DNA:missense mutation:CDS:p.K152Q |
HPO RGD |
PMID:25380965 |
ORPHA:3384, RGD:155882444 |
NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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MIM:270100 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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NONO |
non-POU domain containing octamer binding |
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IAGP |
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HPO |
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MIM:300967 ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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MIM:109730 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NOTCH2 |
notch receptor 2 |
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IAGP |
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HPO |
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MIM:102500 ORPHA:955 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NOTCH3 |
notch receptor 3 |
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IAGP |
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HPO |
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MIM:130720 ORPHA:2789 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
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IAGP |
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HPO |
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MIM:615779 MIM:618901 |
NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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MIM:117550 ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
HPO ClinVar |
PMID:25741868 |
MIM:194190 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NUP107 |
nucleoporin 107 |
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IAGP |
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HPO |
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MIM:616730 MIM:618348 |
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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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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ODAD1 |
outer dynein arm docking complex subunit 1 |
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IAGP |
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HPO |
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MIM:615067 |
NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
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ODAD3 |
outer dynein arm docking complex subunit 3 |
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IAGP |
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HPO |
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MIM:616037 |
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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OTUD5 |
OTU deubiquitinase 5 |
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IAGP |
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HPO |
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MIM:301056 |
NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386
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OTUD6B |
OTU deubiquitinase 6B |
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IAGP |
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HPO |
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MIM:617452 ORPHA:505237 |
NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
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PACS1 |
phosphofurin acidic cluster sorting protein 1 |
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IAGP |
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HPO |
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ORPHA:329224 |
NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
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PACS2 |
phosphofurin acidic cluster sorting protein 2 |
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IAGP |
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HPO |
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MIM:618067 |
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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PAH |
phenylalanine hydroxylase |
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IAGP |
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HPO |
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ORPHA:2209 |
NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
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PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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HPO |
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MIM:610832 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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PDHA1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:79243 |
NCBI chr X:19,343,927...19,361,718
Ensembl chr X:19,343,893...19,361,718
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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MIM:214100 ORPHA:912 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX10 |
peroxisomal biogenesis factor 10 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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PEX11B |
peroxisomal biogenesis factor 11 beta |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
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PEX12 |
peroxisomal biogenesis factor 12 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
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PEX13 |
peroxisomal biogenesis factor 13 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
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PEX14 |
peroxisomal biogenesis factor 14 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
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G |
PEX16 |
peroxisomal biogenesis factor 16 |
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IAGP |
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HPO |
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MIM:614876 ORPHA:912 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
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PEX19 |
peroxisomal biogenesis factor 19 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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G |
PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
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HPO |
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MIM:614866 ORPHA:912 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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G |
PEX26 |
peroxisomal biogenesis factor 26 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
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G |
PEX3 |
peroxisomal biogenesis factor 3 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
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G |
PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PGM1 |
phosphoglucomutase 1 |
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IAGP |
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HPO |
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MIM:614921 |
NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
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PHGDH |
phosphoglycerate dehydrogenase |
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IAGP |
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HPO |
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MIM:256520 |
NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
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PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
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HPO |
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ORPHA:436252 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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G |
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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G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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MIM:280000 ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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G |
PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
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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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MIM:602501 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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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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MIM:603387 ORPHA:83473 |
NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540
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PKD1L1 |
polycystin 1 like 1, transient receptor potential channel interacting |
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IAGP |
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HPO |
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MIM:617205 |
NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466
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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:96191 |
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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MIM:619895 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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G |
PLD1 |
phospholipase D1 |
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IAGP |
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HPO |
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MIM:212093 |
NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950
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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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G |
PNKP |
polynucleotide kinase 3'-phosphatase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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POLA1 |
DNA polymerase alpha 1, catalytic subunit |
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IAGP |
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HPO |
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MIM:301030 |
NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986
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POLR1A |
RNA polymerase I subunit A |
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IAGP |
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HPO |
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MIM:616462 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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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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PPFIBP1 |
PPFIA binding protein 1 |
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IAGP |
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HPO |
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MIM:620024 |
NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564
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PPM1D |
protein phosphatase, Mg2+/Mn2+ dependent 1D |
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IAGP |
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HPO |
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MIM:617450 |
NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280
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PPP1CB |
protein phosphatase 1 catalytic subunit beta |
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IAGP |
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HPO |
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MIM:617506 |
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
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PPP1R13L |
protein phosphatase 1 regulatory subunit 13 like |
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IAGP |
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HPO |
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MIM:620519 |
NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349
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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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PQBP1 |
polyglutamine binding protein 1 |
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IAGP |
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HPO |
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MIM:309500 |
NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402
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PRDM13 |
PR/SET domain 13 |
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IAGP |
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HPO |
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MIM:619909 |
NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578
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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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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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PSMD12 |
proteasome 26S subunit, non-ATPase 12 |
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IAGP |
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HPO |
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MIM:617516 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
susceptibility |
IAGP |
DNA:snp:intron:c.757-4333A>G (rs11066320) |
HPO RGD |
PMID:22503907 |
MIM:163950, RGD:12743641 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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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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MIM:615583 ORPHA:508488 ORPHA:508498 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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RAB23 |
RAB23, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:201000 |
NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
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RAB34 |
RAB34, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:620718 |
NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429
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RAC1 |
Rac family small GTPase 1 |
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IAGP |
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HPO |
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MIM:617751 ORPHA:500159 |
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RAD21 |
RAD21 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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ORPHA:477817 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RAP1B |
RAP1B, member of RAS oncogene family |
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IAGP |
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HPO |
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MIM:620654 |
NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901
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RARB |
retinoic acid receptor beta |
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IAGP |
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HPO |
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MIM:615524 |
NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
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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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MIM:274000 |
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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MIM:616975 ORPHA:494344 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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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 |
RFX7 |
regulatory factor X7 |
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IAGP |
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HPO |
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MIM:620330 |
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
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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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MIM:615355 |
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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G |
RNF113A |
ring finger protein 113A |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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G |
RNU4-2 |
RNA, U4 small nuclear 2 |
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IAGP |
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HPO |
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MIM:620851 |
NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903
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G |
RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:210710 MIM:616651 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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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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MIM:113000 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 |
RPL10 |
ribosomal protein L10 |
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IAGP |
|
HPO |
|
MIM:300998 ORPHA:459070 |
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
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G |
RPL11 |
ribosomal protein L11 |
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IAGP |
|
HPO |
|
MIM:612562 ORPHA:124 |
NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
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G |
RPL15 |
ribosomal protein L15 |
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IAGP |
|
HPO |
|
MIM:615550 ORPHA:124 |
NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
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G |
RPL18 |
ribosomal protein L18 |
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IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
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G |
RPL26 |
ribosomal protein L26 |
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IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
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G |
RPL27 |
ribosomal protein L27 |
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IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
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G |
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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MIM:612528 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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MIM:612561 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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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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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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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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RPS19 |
ribosomal protein S19 |
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IAGP |
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HPO |
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MIM:105650 ORPHA:124 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
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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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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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RPS26 |
ribosomal protein S26 |
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IAGP |
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HPO |
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MIM:613309 ORPHA:124 |
NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
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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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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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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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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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RRAGC |
Ras related GTP binding C |
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IAGP |
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HPO |
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MIM:620609 |
NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772
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RRAS2 |
RAS related 2 |
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IAGP |
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HPO |
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MIM:618624 |
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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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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RSPO2 |
R-spondin 2 |
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IAGP |
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HPO |
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MIM:618021 |
NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
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RTL1 |
retrotransposon Gag like 1 |
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IAGP |
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HPO |
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ORPHA:254534 ORPHA:96334 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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RYR1 |
ryanodine receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar HPO |
PMID:16835904 PMID:24033266 PMID:25741868 |
MIM:619542 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SALL1 |
spalt like transcription factor 1 |
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IAGP |
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HPO |
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MIM:107480 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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SALL4 |
spalt like transcription factor 4 |
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IAGP |
DNA:missense mutations:cds:p.R196W, p.S797C |
HPO RGD |
PMID:19619907 |
MIM:607323, RGD:11556206 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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SATB1 |
SATB homeobox 1 |
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IAGP |
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HPO |
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MIM:619229 |
NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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ORPHA:251028 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SCAF4 |
SR-related CTD associated factor 4 |
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IAGP |
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HPO |
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MIM:620511 |
NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118
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SCN1B |
sodium voltage-gated channel beta subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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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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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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SF3B2 |
splicing factor 3b subunit 2 |
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IAGP |
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HPO |
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MIM:164210 |
NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
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SF3B4 |
splicing factor 3b subunit 4 |
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IAGP |
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HPO |
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MIM:154400 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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SH3PXD2B |
SH3 and PX domains 2B |
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IAGP |
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HPO |
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MIM:249420 |
NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
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IAGP |
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HPO |
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MIM:606232 |
NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212
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SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
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IAGP |
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HPO |
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MIM:607721 |
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
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SIK1 |
salt inducible kinase 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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SIX6 |
SIX homeobox 6 |
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IAGP |
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HPO |
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MIM:206900 |
NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
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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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SKIC3 |
SKI3 subunit of superkiller complex |
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IAGP |
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HPO |
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MIM:222470 ORPHA:84064 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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SLC12A2 |
solute carrier family 12 member 2 |
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IAGP |
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HPO |
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MIM:619083 |
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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SLC19A2 |
solute carrier family 19 member 2 |
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IAGP |
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HPO |
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MIM:249270 ORPHA:49827 |
NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944
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SLC25A22 |
solute carrier family 25 member 22 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
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MIM:602782 ORPHA:1782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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SLC32A1 |
solute carrier family 32 member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
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G |
SLC37A4 |
solute carrier family 37 member 4 |
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IAGP |
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HPO |
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MIM:619525 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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SLF2 |
SMC5-SMC6 complex localization factor 2 |
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IAGP |
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HPO |
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MIM:620184 |
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
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SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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MIM:619657 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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MIM:139210 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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G |
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
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IAGP |
ClinVar Annotator: match by term: Ventricular septal defect |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
MIM:614609 ORPHA:1465 |
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCC2 |
SWI/SNF related BAF chromatin remodeling complex subunit C2 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
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SMARCD1 |
SWI/SNF related BAF chromatin remodeling complex subunit D1 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
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SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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MIM:301044 ORPHA:199 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
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HPO |
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MIM:610759 ORPHA:199 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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SMG8 |
SMG8 nonsense mediated mRNA decay factor |
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IAGP |
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HPO |
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MIM:619268 |
NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239
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SMG9 |
SMG9 nonsense mediated mRNA decay factor |
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IAGP |
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HPO |
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MIM:616920 MIM:619995 |
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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SMN1 |
survival of motor neuron 1, telomeric |
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IAGP |
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HPO |
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MIM:253300 |
NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942 Ensembl chr 5:70,925,030...70,953,942
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
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IAGP |
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HPO |
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MIM:117650 ORPHA:1393 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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SON |
SON DNA and RNA binding protein |
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IAGP |
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HPO |
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MIM:617140 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
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MIM:610733 |
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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MIM:616559 |
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
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G |
SOX11 |
SRY-box transcription factor 11 |
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IAGP |
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HPO |
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ORPHA:1465 |
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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G |
SOX2 |
SRY-box transcription factor 2 |
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IAGP |
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HPO |
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MIM:206900 ORPHA:77298 |
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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G |
SOX4 |
SRY-box transcription factor 4 |
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IAGP |
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HPO |
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MIM:618506 ORPHA:1465 |
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
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IAGP |
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HPO |
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MIM:145420 ORPHA:1519 |
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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MIM:619312 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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SPTBN1 |
spectrin beta, non-erythrocytic 1 |
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IAGP |
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HPO |
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MIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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G |
STAG1 |
STAG1 cohesin complex component |
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IAGP |
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HPO |
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MIM:617635 |
NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403
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G |
STAG2 |
STAG2 cohesin complex component |
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IAGP |
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HPO |
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MIM:301043 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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STAMBP |
STAM binding protein |
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IAGP |
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HPO |
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MIM:614261 |
NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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STRA6 |
signaling receptor and transporter of retinol STRA6 |
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IAGP |
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HPO |
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MIM:601186 |
NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
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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 |
STX5 |
syntaxin 5 |
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IAGP |
|
HPO |
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MIM:620454 |
NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051
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G |
TAB2 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 2 |
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IAGP |
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HPO |
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MIM:614980 |
NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
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G |
TAF6 |
TATA-box binding protein associated factor 6 |
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IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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G |
TALDO1 |
transaldolase 1 |
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IAGP |
|
HPO |
|
MIM:606003 |
NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
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G |
TAOK1 |
TAO kinase 1 |
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IAGP |
|
HPO |
|
MIM:619575 |
NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
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G |
TAPT1 |
transmembrane anterior posterior transformation 1 |
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IAGP |
|
HPO |
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MIM:616897 |
NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410
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G |
TARS1 |
threonyl-tRNA synthetase 1 |
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IAGP |
|
HPO |
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ORPHA:33364 |
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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G |
TASP1 |
taspase 1 |
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IAGP |
|
HPO |
|
MIM:618950 |
NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932
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G |
TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
|
MIM:220500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671
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G |
TBCK |
TBC1 domain containing kinase |
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IAGP |
|
HPO |
|
ORPHA:488632 |
NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
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G |
TBL2 |
transducin beta like 2 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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G |
TBX1 |
T-box transcription factor 1 |
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IAGP |
DNA:SNP:promoter:g.4199C>T |
HPO RGD |
PMID:22801995 |
MIM:188400 MIM:192430 ORPHA:1727 ORPHA:3384 ORPHA:567, RGD:155631302 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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MIM:181450 ORPHA:3138 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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TBX5 |
T-box transcription factor 5 |
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IAGP |
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HPO |
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MIM:142900 ORPHA:392 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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TCF21 |
transcription factor 21 |
susceptibility |
IAGP |
DNA:SNPs:3'UTR: (rs12190287) (human) |
RGD |
PMID:28346832 |
RGD:329337362 |
NCBI chr 6:133,889,113...133,895,537
Ensembl chr 6:133,889,113...133,895,553
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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:1782 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCTN3 |
tectonic family member 3 |
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IAGP |
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HPO |
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MIM:614815 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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TET3 |
tet methylcytosine dioxygenase 3 |
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IAGP |
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HPO |
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MIM:618798 |
NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177
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TFAP2B |
transcription factor AP-2 beta |
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IAGP |
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HPO |
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ORPHA:46627 |
NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
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TGDS |
TDP-glucose 4,6-dehydratase |
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IAGP |
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HPO |
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MIM:616145 ORPHA:1388 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
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TGFB3 |
transforming growth factor beta 3 |
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IAGP |
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HPO |
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MIM:615582 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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THOC6 |
THO complex subunit 6 |
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IAGP |
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HPO |
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MIM:613680 |
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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TIAM1 |
TIAM Rac1 associated GEF 1 |
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IAGP |
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HPO |
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MIM:619908 |
NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977
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TKT |
transketolase |
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IAGP |
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HPO |
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MIM:617044 ORPHA:488618 |
NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052
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TMEM237 |
transmembrane protein 237 |
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IAGP |
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HPO |
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MIM:614424 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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TMEM260 |
transmembrane protein 260 |
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IAGP |
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HPO |
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MIM:617478 |
NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606
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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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TMEM53 |
transmembrane protein 53 |
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IAGP |
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HPO |
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MIM:619727 |
NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481
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TMEM94 |
transmembrane protein 94 |
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IAGP |
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HPO |
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MIM:618316 |
NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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MIM:106260 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TPR |
translocated promoter region, nuclear basket protein |
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IAGP |
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HPO |
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MIM:620393 |
NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693
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TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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MIM:618164 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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TRAIP |
TRAF interacting protein |
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IAGP |
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HPO |
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MIM:616777 |
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
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TRIM8 |
tripartite motif containing 8 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789
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TRIO |
trio Rho guanine nucleotide exchange factor |
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IAGP |
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HPO |
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MIM:617061 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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TRRAP |
transformation/transcription domain associated protein |
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IAGP |
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HPO |
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MIM:618454 |
NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
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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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TTC7A |
tetratricopeptide repeat domain 7A |
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IAGP |
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HPO |
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MIM:243150 ORPHA:436252 |
NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
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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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TXNL4A |
thioredoxin like 4A |
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IAGP |
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HPO |
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MIM:608572 |
NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
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UBE2A |
ubiquitin conjugating enzyme E2 A |
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IAGP |
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HPO |
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ORPHA:163956 |
NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083
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UBE3B |
ubiquitin protein ligase E3B |
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IAGP |
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HPO |
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MIM:244450 |
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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MIM:243800 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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UBR7 |
ubiquitin protein ligase E3 component n-recognin 7 |
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IAGP |
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HPO |
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MIM:619189 |
NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215
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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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UMPS |
uridine monophosphate synthetase |
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IAGP |
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HPO |
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MIM:258900 |
NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273
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UQCRFS1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
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IAGP |
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HPO |
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MIM:618775 |
NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151
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VAC14 |
VAC14 component of PIKFYVE complex |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
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VIPAS39 |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
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IAGP |
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HPO |
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MIM:613404 |
NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952
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VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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VPS33B |
VPS33B late endosome and lysosome associated |
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IAGP |
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HPO |
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MIM:208085 |
NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603
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VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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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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WASHC5 |
WASH complex subunit 5 |
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IAGP |
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HPO |
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MIM:220210 ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WBP4 |
WW domain binding protein 4 |
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IAGP |
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HPO |
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MIM:620852 |
NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006
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WDR26 |
WD repeat domain 26 |
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IAGP |
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HPO |
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MIM:617616 ORPHA:513456 |
NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
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WDR37 |
WD repeat domain 37 |
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IAGP |
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HPO |
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MIM:618652 |
NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991
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WNT4 |
Wnt family member 4 |
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IAGP |
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HPO |
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MIM:611812 ORPHA:139466 |
NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
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WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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MIM:608978 ORPHA:3097 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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XYLT1 |
xylosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:1425 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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XYLT2 |
xylosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:85194 |
NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
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YARS1 |
tyrosyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619418 |
NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
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YY1AP1 |
YY1 associated protein 1 |
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IAGP |
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HPO |
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ORPHA:79094 |
NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,446...155,689,334
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ZBTB7A |
zinc finger and BTB domain containing 7A |
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IAGP |
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HPO |
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MIM:619769 |
NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899
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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:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZFX |
zinc finger protein X-linked |
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IAGP |
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HPO |
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MIM:301118 |
NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255
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ZIC3 |
Zic family member 3 |
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IAGP |
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HPO |
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MIM:306955 |
NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
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ZMYM2 |
zinc finger MYM-type containing 2 |
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IAGP |
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HPO |
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MIM:619522 |
NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
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ZNF462 |
zinc finger protein 462 |
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IAGP |
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HPO |
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MIM:618619 |
NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
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ZNF699 |
zinc finger protein 699 |
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IAGP |
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HPO |
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MIM:619488 |
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
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STAG2 |
STAG2 cohesin complex component |
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IAGP |
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HPO |
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MIM:301022 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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IFT56 |
intraflagellar transport 56 |
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IAGP |
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HPO |
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MIM:619534 |
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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DPH5 |
diphthamide biosynthesis 5 |
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IAGP |
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HPO |
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MIM:620070 |
NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088
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DSG1 |
desmoglein 1 |
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IAGP |
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HPO |
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MIM:615508 |
NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246
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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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ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
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IAGP |
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HPO |
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MIM:278250 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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DNAJC19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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IAGP |
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HPO |
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ORPHA:66634 |
NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
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DPH2 |
diphthamide biosynthesis 2 |
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IAGP |
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HPO |
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MIM:620062 |
NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
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GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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MIM:614474 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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GET3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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IAGP |
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HPO |
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MIM:620203 |
NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323
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GJA5 |
gap junction protein alpha 5 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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GJA8 |
gap junction protein alpha 8 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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MIM:157800 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MYBPC3 |
myosin binding protein C3 |
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IAGP |
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HPO |
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MIM:115197 |
NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
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MYH7 |
myosin heavy chain 7 |
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IAGP |
ClinVar Annotator: match by term: Muscular ventricular septal defect |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
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NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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MIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NUP188 |
nucleoporin 188 |
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IAGP |
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HPO |
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MIM:618804 |
NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096
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PLD1 |
phospholipase D1 |
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IAGP |
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HPO |
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MIM:212093 |
NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950
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PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
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IAGP |
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HPO |
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MIM:618354 |
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,193,978...134,226,073
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PSMC1 |
proteasome 26S subunit, ATPase 1 |
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IAGP |
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HPO |
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MIM:620071 |
NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:210710 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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RPL3L |
ribosomal protein L3 like |
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IAGP |
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HPO |
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MIM:619371 |
NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606
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SVBP |
small vasohibin binding protein |
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IAGP |
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HPO |
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MIM:618569 |
NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
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G |
TBX5 |
T-box transcription factor 5 |
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IAGP |
|
HPO |
|
MIM:142900 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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G |
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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WBP11 |
WW domain binding protein 11 |
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IAGP |
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HPO |
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MIM:619227 |
NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486
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ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:608104 |
NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
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ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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MIM:301040 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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BMP2 |
bone morphogenetic protein 2 |
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IAGP |
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HPO |
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MIM:617877 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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CALM3 |
calmodulin 3 |
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IAGP |
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HPO |
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MIM:618782 |
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
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CHD3 |
chromodomain helicase DNA binding protein 3 |
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IAGP |
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HPO |
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MIM:618205 |
NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
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CITED2 |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
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IAGP |
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HPO |
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MIM:614431 |
NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
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CLXN |
calaxin |
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IAGP |
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HPO |
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MIM:620642 |
NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311
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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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MIM:608779 |
NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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MIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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MIM:620662 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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FH |
fumarate hydratase |
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IAGP |
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HPO |
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MIM:606812 |
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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MIM:600001 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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GJA5 |
gap junction protein alpha 5 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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GJA8 |
gap junction protein alpha 8 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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LSM1 |
LSM1 homolog, mRNA degradation associated |
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IAGP |
ClinVar Annotator: match by term: Perimembranous ventricular septal defect |
ClinVar |
PMID:25741868 PMID:31010896 |
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NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730
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MEIS2 |
Meis homeobox 2 |
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IAGP |
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HPO |
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MIM:600987 |
NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
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MYH7 |
myosin heavy chain 7 |
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IAGP |
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HPO |
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MIM:613426 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
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HPO |
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MIM:300855 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NDUFB7 |
NADH:ubiquinone oxidoreductase subunit B7 |
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IAGP |
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HPO |
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MIM:620135 |
NCBI chr19:14,566,078...14,572,066
Ensembl chr19:14,566,078...14,572,066
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NDUFC2 |
NADH:ubiquinone oxidoreductase subunit C2 |
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IAGP |
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HPO |
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MIM:619170 |
NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862
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NUP188 |
nucleoporin 188 |
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IAGP |
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HPO |
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MIM:618804 |
NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096
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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:508498 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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RAD21 |
RAD21 cohesin complex component |
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IAGP |
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HPO |
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MIM:611376 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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SEC31A |
SEC31 homolog A, COPII coat complex component |
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IAGP |
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HPO |
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MIM:618651 |
NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166
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TBX5 |
T-box transcription factor 5 |
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IAGP |
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HPO |
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MIM:142900 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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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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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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Term paths to the root
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