DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
Disease: VAN MALDERGEM SYNDROME 1 ×
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: rs483352919
rs483352919 		1.000 0.240 11 6625235 missense variant T/A;C snv 4.1E-06
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2013 2013
dbSNP: rs369091875
rs369091875 		0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483352917
rs483352917 		1.000 0.240 11 6633009 stop gained C/A snv
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483352918
rs483352918 		1.000 0.240 11 6632969 frameshift variant G/- del
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0