CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
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: rs761805324
rs761805324 		1.000 17 42691457 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.800 1.000 4 2016 2018
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.800 1.000 4 2016 2018
dbSNP: rs768554986
rs768554986 		0.925 17 42686969 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 1.000 4 2014 2017
dbSNP: rs142029931
rs142029931 		1.000 0.040 17 42691962 missense variant G/A snv 4.0E-04 4.0E-04
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs72826962
rs72826962 		1.000 0.080 17 42684371 intron variant C/T snv 8.6E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1865119
Disease: Progressive ventriculomegaly
Progressive ventriculomegaly 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017