LCT, lactase, 3938

N. diseases: 90; N. variants: 14
Disease: Malabsorption Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.010 Biomarker group BEFREE Mutant LPH accumulates predominantly in the endoplasmic reticulum but can partially mature at a permissive temperature; these features are unique for a protein involved in a carbohydrate malabsorption defect implicating LPH. 19208354 2009