Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.900 strong 0.943 0 0 1996 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		disease 0.700 None 1.000 0 0 2001 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.660 strong 1.000 0 0 2009 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.430 None 1.000 0 0 2007 2018
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.400 None 1.000 0 0 2007 2007
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype 0.400 None 1.000 0 0 1997 1997
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease 0.200 None 1.000 0 0 2011 2016
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.200 None 0.985 0 0 2003 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease 0.190 None 0.889 0 0 2003 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.170 None 1.000 0 0 2005 2016
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype 0.150 None 0.800 0 0 2005 2013
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease 0.150 None 1.000 0 0 2002 2016
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		disease 0.130 None 1.000 0 0 2008 2012
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.110 None < 0.001 0 0 2014 2014
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.110 None 1.000 0 0 2004 2004
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype 0.110 None 1.000 0 0 2005 2005
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia 		phenotype 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		phenotype 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		phenotype 0.100 None 0 0
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0