OCLN, occludin, 100506658

N. diseases: 195; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606926
rs267606926
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C4552078
Disease:
PSEUDO-TORCH SYNDROME 1 		0.800 GeneticVariation UNIPROT Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 20727516 2010
dbSNP: rs267606926
rs267606926
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C4552078
Disease:
PSEUDO-TORCH SYNDROME 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1561334604
rs1561334604
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C4552078
Disease:
PSEUDO-TORCH SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs730882227
rs730882227
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C0557874
Disease:
Global developmental delay 		CT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882227
rs730882227
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C0270685
Disease:
Cerebral calcification 		CT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882227
rs730882227
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C0431350
Disease:
Primary microcephaly 		CT 0.700 GeneticVariation CLINVAR
dbSNP: rs748442113
rs748442113
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C3489725
Disease:
Pseudo-TORCH syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs749237456
rs749237456
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C4552078
Disease:
PSEUDO-TORCH SYNDROME 1 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs797045840
rs797045840
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C4552078
Disease:
PSEUDO-TORCH SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797045840
rs797045840
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C3489725
Disease:
Pseudo-TORCH syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797045841
rs797045841
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C3489725
Disease:
Pseudo-TORCH syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863225128
rs863225128
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN
CUI: C4552078
Disease:
PSEUDO-TORCH SYNDROME 1 		G 0.700 GeneticVariation CLINVAR