Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607229
rs267607229
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4
CUI: C2750804
Disease:
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		0.800 GeneticVariation UNIPROT Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 19836010 2009
dbSNP: rs267607229
rs267607229
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4
CUI: C2750804
Disease:
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		G 0.800 CausalMutation CLINVAR