Source: CURATED

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: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.400 None 0.989 68 0 1974 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1527306
Disease: spasmus nutans
spasmus nutans 		disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		disease 0.310 None 1.000 20 0 1980 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease 0.330 None 1.000 20 0 1980 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		disease 0.310 None 1.000 20 0 1980 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease 0.400 None 1.000 20 0 1980 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures 		disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020621
Disease: Hypokalemia
Hypokalemia 		phenotype 0.300 None 1.000 9 0 1971 1999
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		disease 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype 0.300 None 1.000 6 0 1984 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory 		phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 None 0.947 6 0 1982 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		disease 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure 		phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		phenotype 0.300 None 1.000 6 0 1984 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		disease 0.300 None 1.000 6 0 1982 1991