RFX6, regulatory factor X6, 222546

N. diseases: 39; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome 		0.750 CausalMutation disease CLINVAR
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome 		0.750 Biomarker disease CTD_human
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome 		0.750 GeneticVariation disease CLINVAR
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.340 Biomarker disease GENOMICS_ENGLAND
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.110 Biomarker phenotype HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.110 Biomarker group HPO
CUI: C0266175
Disease: Jejunal Atresia
Jejunal Atresia 		0.110 Biomarker disease HPO
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.100 Biomarker disease HPO
CUI: C0012241
Disease: Congenital anomaly of gastrointestinal tract
Congenital anomaly of gastrointestinal tract 		0.100 CausalMutation group CLINVAR
CUI: C0012241
Disease: Congenital anomaly of gastrointestinal tract
Congenital anomaly of gastrointestinal tract 		0.100 GeneticVariation group CLINVAR
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.100 Biomarker disease HPO
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 Biomarker disease HPO
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		0.100 Biomarker disease HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
CUI: C0232720
Disease: Pale feces (finding)
Pale feces (finding) 		0.100 Biomarker phenotype HPO
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		0.100 Biomarker disease HPO
CUI: C0266251
Disease: Gallbladder, Agenesis Of
Gallbladder, Agenesis Of 		0.100 Biomarker disease HPO
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		0.100 Biomarker disease HPO
CUI: C0577063
Disease: Gallbladder absent
Gallbladder absent 		0.100 Biomarker phenotype HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2675627
Disease: Acholic stool
Acholic stool 		0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C1832443
Disease: Martinez-Frias Syndrome
Martinez-Frias Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. 15592663 2004