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: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 0 2
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 0 2
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 0 1
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 0 1
Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B 		Wnt family member 2B 0.644 0.615 3.8E-02
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 0 1