Collagen vi-related myopathy

Disease Term Disease ID Gene Symbol Classification References Source
COLLAGEN 6-RELATED MYOPATHY
MONDO:0100225
COL6A1 Causal
15689448 16130093 20976770 21691338 23738969 23743995 24271325 26438297 28043812 7768905 9334230 9817932
ClinGen ClinVar GWAS catalog
COL6A2 Causal
11381124 15563506 17785673 18852439 19949035 26362255 28650483 7768905 9334230
ClinGen GWAS catalog
COL6A3 Causal
11992252 17785673 20976770 23564457 24038877 26247046 7768905 9334230
ClinGen GWAS catalog
COLLAGEN IV-RELATED NEPHROPATHIES
COL4A3 Unknown — ClinVar
COL4A4 Unknown — ClinVar
COL4A5 Unknown — ClinVar