Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.700 Biomarker disease GENOMICS_ENGLAND Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. 25882708 2015
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.700 GermlineCausalMutation disease ORPHANET Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.700 CausalMutation disease CLINVAR Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.700 GermlineCausalMutation disease ORPHANET Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 19836010 2009
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.700 CausalMutation disease CLINVAR Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 19836010 2009
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.700 GeneticVariation disease UNIPROT Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 19836010 2009
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.700 Biomarker disease CTD_human