CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0042798
Disease:
Low Vision 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1840077
Disease:
Anteverted nostril 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1843156
Disease:
Progressive sensorineural hearing impairment 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1837142
Disease:
Poor suck 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1857640
Disease:
Decreased nerve conduction velocity 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4551583
Disease:
Cerebral cortical atrophy 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0742028
Disease:
Cerebellar vermis atrophy 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0401149
Disease:
Chronic constipation 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4024682
Disease:
Hypoplastic fifth fingernail 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1861869
Disease:
Underdeveloped supraorbital ridges 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1839758
Disease:
Narrow forehead 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4025813
Disease:
Abnormality of subcutaneous fat tissue 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0221358
Disease:
Long narrow head 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4023625
Disease:
Absence of stomach bubble on fetal sonography 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0239815
Disease:
Hand clenching 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1856121
Disease:
Broad eyebrow 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1836003
Disease:
Facial diplegia 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0018916
Disease:
Hemangioma 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0029124
Disease:
Optic Atrophy 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0423110
Disease:
Downward slant of palpebral fissure 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0239234
Disease:
Low set ears 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4021758
Disease:
Delayed CNS myelination 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0221354
Disease:
Frontal bossing 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4082299
Disease:
Bulbar palsy 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017