Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE ×
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 CausalMutation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing. 25514610 2014
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.700 CausalMutation 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 CausalMutation CLINVAR COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 24052634 2013
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 11134255 2001