DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Disease: Dyggve-Melchior-Clausen 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: rs120074163
rs120074163 		1.000 0.280 18 49257065 missense variant T/A snv 8.0E-06
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2003 2009
dbSNP: rs120074161
rs120074161 		1.000 0.280 18 49430347 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs120074162
rs120074162 		1.000 0.280 18 49378592 stop gained A/G;T snv 4.0E-06; 4.0E-06
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1471488189
rs1471488189 		1.000 0.280 18 49044187 frameshift variant T/- delins 3.2E-05
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1568119124
rs1568119124 		1.000 0.280 18 49258494 splice acceptor variant C/T snv
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1568264929
rs1568264929 		1.000 0.280 18 49331864 frameshift variant T/- delins
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1568319747
rs1568319747 		1.000 0.280 18 49363235 splice acceptor variant T/C snv
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs775414124
rs775414124 		0.925 0.280 18 49332008 splice acceptor variant T/C snv 1.6E-05 1.4E-05
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0