Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | CALM3 CL E G H | 808 | 1449 | OMIM:618782 | LONG QT SYNDROME 16; LQT16 | | | | 16 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | CITED2 CL E G H | 10370 | 1987 | OMIM:614431 | Ventricular septal defect 2 | . | | | 5 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | | | | 1269 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | . | | | 25 | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0011682 | HP:0011682 | Perimembranous ventricular septal defect | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |