Previous symbols: XPD. Aliases: MAG, EM9, MGC102762, MGC126218, MGC126219.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| COFS Syndrome | causative |
mechanism: NER Gene Biallelic Loss-of-Function
subtype: COFS2
scoped to subtype: COFS2
|
| Trichothiodystrophy | causative germline |
mechanism: Basal Transcription Insufficiency in ERCC2-Related TTD; Candidate TFIIH-Thyroid-Receptor Dysregulation in Brain; Impaired BCR-Mediated B-Cell Activation in ERCC2-Related TTD; R-Loop-Driven Transcriptional Stress in ERCC2-Related TTD Cells; Reduced Beta-Globin Expression in ERCC2-Related TTD; Reduced Naive and Transitional B-Cell Compartments in ERCC2-Related TTD; TFIIH Complex Instability in Photosensitive TTD; Unprocessed R-Loop Accumulation in ERCC2/ERCC3-Related TTD
subtype: Photosensitive TTD; TTD1 (ERCC2)
animal model: Xpd-mutant TTD mouse
scoped to subtype: Photosensitive TTD
|
| Bladder Urothelial Carcinoma |
untyped
Somatic DNA Damage Repair Alteration
|
|
| Xeroderma Pigmentosum | no genetic record |
mechanism: Impaired nucleotide-excision repair
subtype: XP-D
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| xeroderma pigmentosum group D MONDO:0010212 | AR | Definitive 2019-04-19 |
Xeroderma Pigmentosum
no genetic record
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.