RFX6, regulatory factor X6, 222546

N. diseases: 39; N. variants: 13
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2675627
Disease: Acholic stool
Acholic stool
phenotype Digestive System Diseases Finding 6 1 0.100 None 0
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2014 2014
CUI: C0149955
Disease: Annular pancreas
Annular pancreas
disease Digestive System Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.300 limited 1.000 1 2015 2015
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 1 2013 2013
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2014 2014
Congenital anomaly of gastrointestinal tract
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 3 2 0.100 None 0 2
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.100 None 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2014 2014
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.070 None 1.000 7 1 2010 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.070 None 1.000 7 1 2010 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.110 None 1.000 1 2014 2014
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0
CUI: C0266153
Disease: Ectopic gastric tissue
Ectopic gastric tissue
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4 0.010 None 1.000 1 2019 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0
CUI: C0577063
Disease: Gallbladder absent
Gallbladder absent
phenotype Finding 5 0.100 None 0
CUI: C0266251
Disease: Gallbladder, Agenesis Of
Gallbladder, Agenesis Of
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.100 None 0
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.100 None 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.100 None 0
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2014 2014
CUI: C0266175
Disease: Jejunal Atresia
Jejunal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 3 2 0.110 None 1.000 1 2014 2014
CUI: C3714745
Disease: Malabsorption
Malabsorption
phenotype Digestive System Diseases Finding 175 3 0.100 None 0