PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 1.000 limited 0.857 21 3 1999 2019
CUI: C2677132
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 1 2 0.710 limited 1.000 2 2 2007 2016
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.660 limited 0.857 7 1 1999 2019
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 57 4 0.610 limited < 0.001 1 3 2004 2004
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.370 None 0.571 7 1 2004 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.310 None 1.000 1 2008 2008
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 172 4 0.300 None 0
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.300 limited 0
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 0.300 None 0
CUI: C4554117
Disease: Diabetes Mellitus, Sudden-Onset
Diabetes Mellitus, Sudden-Onset 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 0.300 None 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 1.000 13 3 1999 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.130 None 1.000 3 2008 2018
CUI: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 119 11 0.120 None 0.500 2 2015 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 1.000 10 3 1999 2018
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: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		disease Digestive System Diseases Disease or Syndrome 82 26 0.100 None 0
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		disease Disease or Syndrome 23 0.100 None 0
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0
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: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		phenotype Finding 14 0.100 None 0
CUI: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c 		phenotype Finding 14 0.100 None 0
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.100 None 0
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.100 None 0