POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.100 None 0.976 42 1 1980 2019
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		disease Disease or Syndrome 9 4 0.100 None 1.000 22 1 1975 2019
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		disease Disease or Syndrome 27 2 0.100 None 1.000 11 1995 2019
CUI: C4285817
Disease: Cortisol deficiency
Cortisol deficiency 		disease Disease or Syndrome 2 0.090 None 0.889 9 1991 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.080 None 1.000 8 1994 2018
CUI: C4304832
Disease: Primary pigmented nodular adrenocortical disease
Primary pigmented nodular adrenocortical disease 		disease Disease or Syndrome 22 1 0.080 None 1.000 8 1992 2018
CUI: C1955741
Disease: Glucocorticoid deficiency
Glucocorticoid deficiency 		disease Disease or Syndrome 8 9 0.070 None 0.857 7 1998 2018
CUI: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		disease Congenital Abnormality 31 1 0.070 None 1.000 7 1992 2018
CUI: C1291314
Disease: Deficiency of monooxygenase
Deficiency of monooxygenase 		disease Disease or Syndrome 17 15 0.050 None 1.000 5 1989 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.040 None 1.000 4 1982 1996
CUI: C2062372
Disease: Adrenal hyperplasia, bilateral
Adrenal hyperplasia, bilateral 		disease Congenital Abnormality 12 0.040 None 1.000 4 2003 2020
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.140 None 1.000 4 2005 2019
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.030 None 1.000 3 1994 2018
CUI: C1321756
Disease: Achalasia
Achalasia 		disease Disease or Syndrome 40 5 0.030 None 1.000 3 1995 2005
CUI: C1609519
Disease: Myelolipoma of adrenal gland
Myelolipoma of adrenal gland 		disease Neoplastic Process 3 0.030 None 0.667 3 2002 2017
CUI: C4013426
Disease: Bronchial carcinoid
Bronchial carcinoid 		disease Neoplastic Process 7 0.030 None 1.000 3 1997 2017
CUI: C4014803
Disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 		disease Disease or Syndrome 4 13 0.030 None 1.000 3 2015 2018
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.030 None 0.667 3 2013 2017
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.020 None 1.000 2 1998 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.020 None 1.000 2 2018 2019
CUI: C0683357
Disease: Excessive drinking
Excessive drinking 		phenotype Mental or Behavioral Dysfunction 15 1 0.020 None 1.000 2 1996 1996
CUI: C0748073
Disease: psychosocial stressor
psychosocial stressor 		disease Mental or Behavioral Dysfunction 18 3 0.020 None 1.000 2 2004 2017
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase 		disease Disease or Syndrome 8 7 0.020 None 1.000 2 2009 2017
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		phenotype Disease or Syndrome 71 8 0.020 None 1.000 2 2019 2019
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		disease Disease or Syndrome 4 8 0.020 None 1.000 2 2012 2017