rs569681869, COL4A4

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.700 GeneticVariation CLINVAR Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. 26934356 2016
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.700 GeneticVariation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265 2014
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.700 GeneticVariation CLINVAR Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. 17396119 2007
Hematuria
CUI: C0018965
Disease: Hematuria
0.700 GeneticVariation CLINVAR
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.700 GeneticVariation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 GeneticVariation CLINVAR
Proteinuria
CUI: C0033687
Disease: Proteinuria
0.700 GeneticVariation CLINVAR
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.700 GeneticVariation CLINVAR