Ullrich congenital muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
ULLRICH CONGENITAL MUSCULAR DYSTROPHY
75840C4551860MONDO:0000355
COL12A1 Unknown
24334604
Disgenet GWAS catalog Orphanet
COL6A1 Unknown
18366090 20301676
Disgenet GWAS catalog Orphanet
COL6A2 Unknown
18366090 20301676
Disgenet GWAS catalog Orphanet
COL6A3 Unknown
18366090 20301676
Disgenet GWAS catalog Orphanet
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
C0410179
COL6A1 Unknown — Disgenet
COL6A2 Unknown — Disgenet
COL6A3 Unknown — Disgenet
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A
254090MONDO:0009681
COL6A1 Causal — ClinVar GenCC HPO
COL6A2 Causal — GenCC
COL6A3 Causal — GenCC
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B
620727C5935582MONDO:0958235
COL6A2 Causal
20106987 16075202 12218063 34167565 11381124 20302629 32663882 36292982 37738610 19884007 19949035
ClinVar Disgenet GWAS catalog HPO
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C
620728C5935583MONDO:0958236
COL6A3 Causal
11992252 30504588 32448721
ClinVar Disgenet GWAS catalog HPO
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2
616470C4225314MONDO:0014654
COL12A1 Causal
24334604 24334769 27348394 28973083 31230720 8601036
ClinVar Disgenet GWAS catalog HPO