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: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.700 None 0.900 0 0 1995 2018
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
disease 0.500 None 0.983 0 0 1995 2020
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease 0.400 None 1.000 0 0 1998 2019
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
disease 0.200 None 0.952 0 0 1999 2020
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group 0.200 None 0.957 0 0 1997 2020
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease 0.180 None 1.000 0 0 1998 2019
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
Transient neonatal diabetes mellitus
disease 0.140 None 1.000 0 0 2007 2012
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 None 1.000 0 0 2007 2013
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0028754
Disease: Obesity
Obesity
disease 0.120 None 1.000 0 0 2011 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group 0.110 None 1.000 0 0 2014 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0022638
Disease: Ketosis
Ketosis
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
Contractures of the joints of the lower limbs
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1848395
Disease: Large for gestational age
Large for gestational age
phenotype 0.100 None 0 0