Ataxia telangiectasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ATAXIA TELANGIECTASIA | ATM | Unknown | CTD ClinGen Disgenet GWAS catalog | ||
| BAK1 | Unknown | — | Disgenet | ||
| BAX | Unknown | — | Disgenet | ||
| BIK | Unknown | — | Disgenet | ||
| BRAF | Unknown | — | Disgenet | ||
| C11ORF65 | Unknown | — | Disgenet | ||
| HDAC4 | Unknown | — | Disgenet | ||
| IFNG | Unknown | — | Disgenet | ||
| IL2 | Unknown | — | Disgenet | ||
| ATAXIA TELANGIECTASIA LIKE DISORDER | MRE11 | Unknown | — | CTD | |
| PCNA | Unknown | — | CTD | ||
| ATAXIA-TELANGIECTASIA | ATM | Unknown | HPO Orphanet | ||
| ATAXIA-TELANGIECTASIA SYNDROME |
|
ATM | Causal | — | ClinVar |
| ATAXIA-TELANGIECTASIA VARIANT | ATM | Unknown | Disgenet Orphanet | ||
| C11ORF65 | Unknown | — | Disgenet | ||
| ATAXIA-TELANGIECTASIA-LIKE DISORDER | MRE11 | Causal | Disgenet Orphanet | ||
| PCNA | Unknown | — | Disgenet | ||
| ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 | MRE11 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 | PCNA | Causal | ClinVar Disgenet GenCC HPO |