Source: CLINVAR

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, TRANSIENT NEONATAL, 2 (disorder)
disease 0.900 None 1.000 0 10 2000 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
DIABETES MELLITUS, PERMANENT NEONATAL
disease 0.800 strong 1.000 0 22 2006 2018
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
Hyperinsulinemic hypoglycemia, familial, 1
disease 0.700 None 1.000 84 122 1995 2018
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced
disease 0.700 None 1.000 0 6 2004 2004
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 7 1995 2018
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.700 None 1.000 0 10 2000 2019
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 25 9 1995 2020
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
Hyperinsulinemic hypoglycemia, familial, 2
disease 0.400 None 1.000 46 22 1976 2016
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 3 1998 2019
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease 0.110 None 1.000 0 2 2011 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
phenotype 0.100 None 0 2
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
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 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 2
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C3494422
Disease: Retrognathia
Retrognathia
disease 0.100 None 0 1
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 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group 0.100 None 0 2
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0152421
Disease: Macrotia
Macrotia
disease 0.100 None 0 2
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0232180
Disease: Cardiac shunt
Cardiac shunt
phenotype 0.100 None 0 2
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 2