Ullrich congenital muscular dystrophy

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
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
All4 Causal4 Unknown4
Related Diseases Diseases that share the most curated genes with Ullrich congenital muscular dystrophy.
5 View disease cluster →
Collagen vi muscular dystrophy 3 shared genesCOL6A3, COL6A1, COL6A2 Related via 3 shared genes including COL6A3, COL6A1, COL6A2. collagen 6-related myopathy 3 shared genesCOL6A3, COL6A1, COL6A2 Related via 3 shared genes including COL6A3, COL6A1, COL6A2. Bethlem myopathy 4 shared genesCOL12A1, COL6A3, COL6A1, COL6A2 Related via 4 shared genes including COL12A1, COL6A3, COL6A1. Collagen vi-related myopathy 3 shared genesCOL6A3, COL6A1, COL6A2 Related via 3 shared genes including COL6A3, COL6A1, COL6A2. dystonia 27 1 shared geneCOL6A3 Related via 1 shared gene including COL6A3.