Symbol
Name
ID

Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6
MGI:1100494

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Defective DNA repair after ultraviolet radiation damage

Increased cellular sensitivity to UV light

Hyperuricemia

Abnormal circulating porphyrin concentration

Decreased CSF 5-hydroxyindolacetic acid concentration

Elevated circulating hepatic transaminase concentration

Diabetes mellitus

Insulin resistance

Metabolic acidosis

Dehydration

Increased level of L-fucose in urine

Proteinuria

Vascular calcification

Elevated circulating follicle stimulating hormone level

Atypical scarring of skin

Scarring

Cerebellar calcifications

Cerebellar dentate nucleus calcification

Cerebral calcification

Basal ganglia calcification

Subcortical white matter calcifications

Disease(s) Associated with ERCC6

cerebrooculofacioskeletal syndrome 1

Cockayne syndrome

Cockayne syndrome B

De Sanctis-Cacchione syndrome

primary ovarian insufficiency 11

stomach cancer

UV-sensitive syndrome

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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