NECTIN1, nectin cell adhesion molecule 1, 5818

N. diseases: 196; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894281
rs104894281
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease:
Zlotogora-Ogur syndrome 		0.710 GeneticVariation BEFREE Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. 16674562 2006
dbSNP: rs104894281
rs104894281
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease:
Zlotogora-Ogur syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs4271390
rs4271390
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C0040517
Disease:
Gilles de la Tourette syndrome 		T 0.700 GeneticVariation GWASCAT Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. 25158072 2015
dbSNP: rs4271390
rs4271390
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C0028768
Disease:
Obsessive-Compulsive Disorder 		T 0.700 GeneticVariation GWASCAT Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. 25158072 2015
dbSNP: rs104894281
rs104894281
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C1833538
Disease:
OROFACIAL CLEFT 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs876657374
rs876657374
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease:
Zlotogora-Ogur syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878853255
rs878853255
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease:
Zlotogora-Ogur syndrome 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs769476648
rs769476648
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease:
Zlotogora-Ogur syndrome 		0.010 GeneticVariation BEFREE Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 25913853 2015
dbSNP: rs104894281
rs104894281
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C0013575
Disease:
Ectodermal Dysplasia 		0.010 GeneticVariation BEFREE Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. 16674562 2006