Disease Term Disease ID Gene Symbol Classification References Source
HYPERTRICHOSIS ARID1B Causal Disgenet
KCNJ11 Causal Disgenet
ASXL1 Unknown Disgenet
CREBBP Unknown Disgenet
NAGLU Unknown Disgenet
RAB3GAP1 Unknown Disgenet
SLC29A3 Unknown CTD Disgenet
HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA ABCA5 Unknown CTD Disgenet
HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2 SOX3 Unknown Disgenet
HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA ABCA5 Unknown HPO
HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME ABCC9 Unknown GWAS catalog
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA CANTU TYPE ABCC9 Causal ClinGen ClinVar GWAS catalog
KCNJ8 Causal CTD