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: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy
disease Disease or Syndrome 22 0.100 None 0
Papillary cystadenoma of the epididymis
disease Neoplastic Process 6 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype Finding 181 12 0.100 None 0
CUI: C3281138
Disease: CHROMOSOME 17q12 DELETION SYNDROME
CHROMOSOME 17q12 DELETION SYNDROME
disease Disease or Syndrome 2 0.300 None 0
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0017979
Disease: Glycosuria
Glycosuria
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
Abnormality of alkaline phosphatase activity
phenotype Finding 1 0.100 None 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
disease Congenital Abnormality 10 0.100 None 0
CUI: C0266445
Disease: Congenital atresia of vas deferens
Congenital atresia of vas deferens
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.100 None 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 0
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C4021968
Disease: Aplasia/Hypoplasia of the pancreas
Aplasia/Hypoplasia of the pancreas
phenotype Finding 5 0.100 None 0
Abnormality of endocrine pancreas physiology
phenotype Pathologic Function 4 0.100 None 0
CUI: C4021967
Disease: Pancreatic aplasia
Pancreatic aplasia
phenotype Finding 3 0.100 None 0
Abnormality of exocrine pancreas physiology
phenotype Pathologic Function 3 0.100 None 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis
phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0037859
Disease: Spermatocele
Spermatocele
disease Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0041960
Disease: Ureterocele
Ureterocele
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 26 1 0.100 None 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0