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:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | . | | | 25 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | | | | 163 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | MIB1 CL E G H | 57534 | 21086 | OMIM:615092 | Left ventricular noncompaction 7 | | | | 28 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | | | | 80 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040284 - Very rare | | | 15 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:115000 | CARDIAC ARRHYTHMIA | | | | 1103 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0012817 | HP:0012817 | Noncompaction cardiomyopathy | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:611878 | Cardiomyopathy, dilated, 1Y | | | | 230 | | |
HP:0012817 | HP:0012818 | Biventricular noncompaction cardiomyopathy | 1 | CL E G H | | | | | | | | | | |
HP:0012817 | HP:0012816 | Right ventricular noncompaction cardiomyopathy | 1 | CL E G H | | | | | | | | | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | . | | | 163 | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | MIB1 CL E G H | 57534 | 21086 | OMIM:615092 | Left ventricular noncompaction 7 | . | | | 28 | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | | | | 80 | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | RYR2 CL E G H | 6262 | 10484 | OMIM:115000 | CARDIAC ARRHYTHMIA | | | | 1103 | | |
HP:0012817 | HP:0011664 | Left ventricular noncompaction cardiomyopathy | 1 | TPM1 CL E G H | 7168 | 12010 | OMIM:611878 | Cardiomyopathy, dilated, 1Y | | | | 230 | | |