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systemic sclerosis

Disease Summary
Associated Targets (240)
Tbio

173

Tchem

33

Tdark

24

Tclin

10


Explore Associated Targets
Mondo Description A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.
Disease Ontology Description A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Mondo Term and Equivalent IDs
MONDO:0005100:  systemic sclerosis
COHD:134442: 
EFO:0000717: 
GARD:0009748: 
ICD9:710.1: 
MESH:D012595: 
NCIT:C72070: 
Orphanet:90291: 
SCTID:89155008: 
UMLS:CN206012: 
GWAS Targets (442)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tchem
8
6
1
1.3
97.1
Tchem
8
6
1
1.3
97.1
Tbio
8
7
0
1.5
96.9
Tbio
7
6
0
1.5
96.7
Tdark
5
4
0
1.5
94.9
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tchem
1
1.3
97.1
Tchem
1
1.3
97.1
Tbio
0
1.5
96.9
Tbio
0
1.5
96.7
Tdark
0
1.5
94.9
Disease Hierarchy
Target Novelty (Tin-x)