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:0040045 | HP:0040045 | Abnormal hemidiaphragm morphology | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0040045 | HP:0040045 | Abnormal hemidiaphragm morphology | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0040045 | HP:0040045 | Abnormal hemidiaphragm morphology | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0040045 | HP:0040045 | Abnormal hemidiaphragm morphology | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0040045 | HP:0040045 | Abnormal hemidiaphragm morphology | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0040045 | HP:0040045 | Abnormal hemidiaphragm morphology | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0040045 | HP:0040045 | Abnormal hemidiaphragm morphology | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0040045 | HP:0040046 | Abnormal left hemidiaphragm morphology | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0040045 | HP:0040047 | Abnormal right hemidiaphragm morphology | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0040045 | HP:0040046 | Abnormal left hemidiaphragm morphology | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0040045 | HP:0040047 | Abnormal right hemidiaphragm morphology | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040283 - Occasional | | | 173 | | |
HP:0040045 | HP:0040046 | Abnormal left hemidiaphragm morphology | 1 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0040045 | HP:0040046 | Abnormal left hemidiaphragm morphology | 1 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0040045 | HP:0040047 | Abnormal right hemidiaphragm morphology | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0040045 | HP:0040046 | Abnormal left hemidiaphragm morphology | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0040045 | HP:0009112 | Aplasia of the left hemidiaphragm | 2 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0040045 | HP:0032592 | Aplasia of the right hemidiaphragm | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0040045 | HP:0009112 | Aplasia of the left hemidiaphragm | 2 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0040045 | HP:0009112 | Aplasia of the left hemidiaphragm | 2 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0040045 | HP:0009112 | Aplasia of the left hemidiaphragm | 2 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0040045 | HP:0009112 | Aplasia of the left hemidiaphragm | 2 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0040045 | HP:0032592 | Aplasia of the right hemidiaphragm | 2 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |