POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.900 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0028754
Disease: Obesity
Obesity 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.610 Biomarker disease CTD_human
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.610 CausalMutation disease CLINVAR
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.420 Biomarker disease HPO
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.200 Biomarker phenotype HPO
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency 		0.200 Biomarker disease HPO
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		0.160 Biomarker disease HPO
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.150 Biomarker disease HPO
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.140 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.130 Biomarker disease HPO
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.130 Biomarker disease HPO
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.130 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.110 Biomarker disease HPO
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.100 Biomarker disease HPO
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.100 Biomarker disease HPO
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0239803
Disease: Red hair
Red hair 		0.100 Biomarker phenotype HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		0.100 Biomarker disease HPO