Sotos syndrome

Disease Term Disease ID Gene Symbol Classification References Source
SOTOS SYNDROME
117550821C0175695MESH:D058495MONDO:0019349PS117550
NSD1 Causal
12525543 16222665 11896389 14571271 14627693 14997433 15720303 16140999 16188863 16547423 16780628 19545651 19876911 20420030 21482210 21677396 21677402 23341071 24795065 25887879 26487424 27834868 28457852 29
CTD ClinGen ClinVar Disgenet GWAS catalog HPO Orphanet
SCN4A Causal — Disgenet
APC2 Unknown
25753423 31585108
Disgenet Orphanet
PIK3CA Unknown — Disgenet
SETD2 Unknown
24852293
Disgenet GWAS catalog
SOTOS SYNDROME 1
MONDO:0007299
NSD1 Unknown — GenCC