Ichthyosis follicularis atrichia photophobia syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Ichthyosis follicularis atrichia photophobia syndrome | C1839988 | GJB2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| MBTPS2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 9021007, 19361614, 21600032, 22931912, 24313295 | - |