HPSE2, heparanase 2 (inactive), 60495

N. diseases: 81; N. variants: 46
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 Biomarker disease BEFREE We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. 20560209 2010
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 GeneticVariation disease BEFREE A literature review of 36 reported cases of FH/UFS revealed 12 individuals who were IDMs, establishing a strong relationship of the syndrome with maternal diabetes. 6854450 1983