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: rs761805324
rs761805324
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0740279
Disease:
Cerebellar atrophy 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1842364
Disease:
Central hypotonia 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0003886
Disease:
Arthrogryposis 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555642784
rs1555642784
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0235946
Disease:
Cerebral atrophy 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1567969825
rs1567969825
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567973088
rs1567973088
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567973091
rs1567973091
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0220662
Disease:
ARTHROGRYPOSIS, DISTAL, TYPE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0026848
Disease:
Myopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs746361190
rs746361190
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs751050956
rs751050956
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs756896276
rs756896276
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs768554986
rs768554986
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786204799
rs786204799
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs786204800
rs786204800
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs878853221
rs878853221
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs768554986
rs768554986
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4225386
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation UNIPROT Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
dbSNP: rs761805324
rs761805324
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.800 GeneticVariation UNIPROT Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4748608
Disease:
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.800 GeneticVariation UNIPROT Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0239676
Disease:
High 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: C4281993
Disease:
Neonatal respiratory distress 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017