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 		0.030 Biomarker disease BEFREE It is believed that the SHANK3 gene is the major candidate gene for the neurologic features of the syndrome. 24375995 2014
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.030 Biomarker disease BEFREE SHANK3, the major candidate gene for the neurologic features of the syndrome, was deleted in all cases. 21984749 2011
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.030 Biomarker disease BEFREE The finding that ProSAP2 is included in the critical region of the 22q deletion syndrome and that our proband displays all signs and symptoms of the syndrome suggests that ProSAP2 haploinsufficiency is the cause of the 22q13.3 deletion syndrome. 11431708 2001