SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Myhre syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281875320
rs281875320 		1.000 0.320 18 51078308 missense variant A/G snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2011 2012