Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 29926
Gene Symbol: GMPPA
GMPPA 		GDP-mannose pyrophosphorylase A 0.711 0.385 8.4E-09
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		disease 0.700 strong 1.000 0 5 2013 2013
Entrez Id: 105373885
Gene Symbol: ASIC4-AS1
ASIC4-AS1 		ASIC4 antisense RNA 1 0.931
CUI: C3809738
Disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME 		disease 0.100 None 0 5