Geleophysic dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Geleophysic dysplasia | 2623, C3489726 | ADAMTSL2 | Causal Pathogenic evidence from ClinVar | 18677313 | ClinVar |
| FBN1 | Causal Pathogenic evidence from ClinVar | 21683322, 27245183 | ClinVar | ||
| LTBP3 | Causal Pathogenic evidence from ClinVar | 27068007 | ClinVar | ||
| SMAD2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 18677313 | - | ||
| TGFB1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 18677313 | - | ||
| GELEOPHYSIC DYSPLASIA 1 | C3278147 | ADAMTSL2 | Causal Pathogenic evidence from ClinVar | 18677313, 21415077 | ClinVar |
| GELEOPHYSIC DYSPLASIA 2 | C3280054 | FBN1 | Causal Pathogenic evidence from ClinVar | 7762551, 20082464, 21683322, 26380986 | ClinVar |
| GELEOPHYSIC DYSPLASIA 3 | C4540511 | LTBP3 | Causal Pathogenic evidence from ClinVar | 27068007 | ClinVar |