CEP135, centrosomal protein 135, 9662

N. diseases: 31; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307120
rs1085307120
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C3553414
Disease:
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553895368
rs1553895368
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C3553414
Disease:
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs202247811
rs202247811
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C3553414
Disease:
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs752140135
rs752140135
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C3553414
Disease:
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs4865047
rs4865047
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE The Association of CEP135 rs4865047 and NPY2R rs1902491 Single Nucleotide Polymorphisms (SNPs) with Rapid Progression of Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes Mellitus. 30531682 2018
dbSNP: rs4865047
rs4865047
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
CUI: C0154830
Disease:
Proliferative diabetic retinopathy 		0.010 GeneticVariation BEFREE CONCLUSIONS Our study reports a significant association of the CEP135 single nucleotide polymorphism rs4865047 genotype with rapidly progressive proliferative diabetic retinopathy and the control group. 30531682 2018