HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
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: C0442872
Disease: Multiple cysts
Multiple cysts
disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C0041960
Disease: Ureterocele
Ureterocele
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 26 1 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 0.030 None 1.000 3 2004 2018
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
disease Anatomical Abnormality 12 4 0.110 None 1.000 2 1 2017 2019
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.010 None 1.000 1 2007 2007
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.100 None 1.000 1 1 2018 2018
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 2 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.100 None 1.000 16 2003 2019
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 0.150 None 1.000 5 2013 2020
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.040 None 1.000 4 2006 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.020 None 0.500 2 2011 2014
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.020 None 0.500 2 2004 2009
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 27 0.020 None 1.000 2 2017 2018
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 96 8 0.020 None 1.000 2 2015 2017
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.010 None 1.000 1 2019 2019
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 59 6 0.010 None 1.000 1 2011 2011
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.010 None 1.000 1 2004 2004
Congenital malformation of genital organs
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 1 0.010 None 1.000 1 2001 2001
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.010 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 0.010 None 1.000 1 2014 2014
CUI: C0266239
Disease: Congenital anomaly of bile ducts
Congenital anomaly of bile ducts
group Digestive System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2017 2017
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.010 None 1.000 1 2015 2015
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 35 1 0.010 None 1.000 1 2006 2006
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis
disease Congenital Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.010 None 1.000 1 2015 2015