NECTIN1, nectin cell adhesion molecule 1, 5818

N. diseases: 196; N. variants: 5
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: rs104894281
rs104894281 		0.882 0.320 11 119677734 stop gained C/T snv
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.710 1.000 1 2006 2006
dbSNP: rs4271390
rs4271390 		0.925 0.120 11 119655426 intron variant T/C snv 0.68
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs4271390
rs4271390 		0.925 0.120 11 119655426 intron variant T/C snv 0.68
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs104894281
rs104894281 		0.882 0.320 11 119677734 stop gained C/T snv
CUI: C1833538
Disease: OROFACIAL CLEFT 7
OROFACIAL CLEFT 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs876657374
rs876657374 		1.000 0.320 11 119677732 frameshift variant C/- delins
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs878853255
rs878853255 		1.000 0.320 11 119675192 frameshift variant -/A delins
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs104894281
rs104894281 		0.882 0.320 11 119677734 stop gained C/T snv
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs769476648
rs769476648 		1.000 0.320 11 119678445 stop gained G/A snv 4.0E-06
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015