ACTRT1, actin related protein T1, 139741

N. diseases: 26; N. variants: 0
Disease: Follicular atrophoderma and basal cell epitheliomata ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346104
Disease: Follicular atrophoderma and basal cell epitheliomata
Follicular atrophoderma and basal cell epitheliomata 		0.310 Biomarker disease GENOMICS_ENGLAND Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas. 28869610 2017
CUI: C0346104
Disease: Follicular atrophoderma and basal cell epitheliomata
Follicular atrophoderma and basal cell epitheliomata 		0.310 AlteredExpression disease BEFREE ARP-T1 was found to directly bind to the GLI1 promoter, thus inhibiting GLI1 expression, and loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS. 28869610 2017