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Xeroderma pigmentosum complementation group E
1 OMIM reference -
1 associated gene
23 connected diseases
No signs/symptoms info
Disease Type of connection
Cabezas syndrome
Xeroderma pigmentosum complementation group C
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Xeroderma pigmentosum complementation group A
Omenn syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
Anauxetic dysplasia
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Complete androgen insensitivity syndrome
Ear-patella-short stature syndrome
Familial hypospadias
Kennedy disease
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Nestor-Guillermo progeria syndrome
Partial androgen insensitivity syndrome
Retinitis pigmentosa
UV-sensitive syndrome
X-linked Emery-Dreifuss muscular dystrophy
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- XPE
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DDB2 Q92466600811
No signs/symptoms info available.