Anauxetic dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Anauxetic dysplasia | 93347, C1846796 | POP1 | Causal Pathogenic evidence from ClinVar | 21455487 | ClinVar |
| RMRP | Causal Pathogenic evidence from ClinVar | 8034306, 10026268, 11006544, 11207361, 11701897, 11940090, 12107819, 12888988, 14569125, 14608646, 15780958, 16097009, 16244706, 16254002, 16832578, 16838329, 17189938, 17701897, 17937437, 18804272, 21570718, 25663137 | ClinVar | ||
| NEPRO | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| ANAUXETIC DYSPLASIA 2 | C4479357 | POP1 | Causal Pathogenic evidence from ClinVar | 21455487, 27380734, 28067412 | ClinVar |
| ANAUXETIC DYSPLASIA 1 | C4551965 | RMRP | Causal Pathogenic evidence from ClinVar | - | ClinVar |