Basal cell nevus syndrome

Disease Term Disease ID Gene Symbol Classification References Source
BASAL CELL NEVUS SYNDROME
MESH:D001478
GLI2 Unknown
16936257
CTD
PTCH1 Unknown
16405370 16936257 18539553 19287498 25559776 25876211
CTD
PTH Unknown
24803734
CTD
BASAL CELL NEVUS SYNDROME 1
109400MONDO:0958174
PTCH1 Causal
22572734 8658145 8681379 12900905
ClinVar HPO
BASAL CELL NEVUS SYNDROME 2
620343MONDO:0958189
SUFU Causal
26677003 10522671
ClinVar GWAS catalog HPO