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: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.900 strong 0.959 0 0 1996 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.420 None 1.000 0 0 1988 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency 		disease 0.200 None 1.000 0 0 2013 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype 0.200 None 0.952 0 0 1979 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease 0.160 None 1.000 0 0 1998 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease 0.150 None 1.000 0 0 2016 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease 0.140 None 1.000 0 0 2005 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease 0.130 None 1.000 0 0 2018 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease 0.130 None 0.667 0 0 1987 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease 0.130 None 0.667 0 0 2003 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C4022947
Disease: Decreased resting energy expenditure
Decreased resting energy expenditure 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C4024583
Disease: Increased adipose tissue
Increased adipose tissue 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0239803
Disease: Red hair
Red hair 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		phenotype 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		disease 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C4703554
Disease: Increased waist to hip ratio
Increased waist to hip ratio 		phenotype 0.100 None 0 0