PPNAD
MCID: PRM051
MIFTS: 37

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) malady

Endocrine diseases category

Summaries for Primary Pigmented Nodular Adrenocortical Disease

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32MalaCards
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MalaCards: Primary Pigmented Nodular Adrenocortical Disease, also known as PPNAD, is related to cushing's syndrome and carney complex. An important gene associated with Primary Pigmented Nodular Adrenocortical Disease is PDE8B (phosphodiesterase 8B), and among its related pathways are Estrogen biosynthesis and Nuclear Receptor transcription pathway. The compounds cycloheximide and dexamethasone have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

Aliases & Classifications for Primary Pigmented Nodular Adrenocortical Disease

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42NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

primary pigmented nodular adrenocortical disease 42
ppnad 42


Related Diseases for Primary Pigmented Nodular Adrenocortical Disease

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17GeneCards, 18GeneDecks
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Diseases in the Pigmented Nodular Adrenocortical Disease, Primary, 2 family:

primary pigmented nodular adrenocortical disease Pigmented Nodular Adrenocortical Disease, Primary, 3
Pigmented Nodular Adrenocortical Disease, Primary, 1

Diseases related to Primary Pigmented Nodular Adrenocortical Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1cushing's syndrome31.3NR3C1, POMC
2carney complex31.2GNAS, PDE8B, PDE11A, PRKAR1A, POMC
3adenoma30.9ESR2, CHGA, SMARCA4, CNC, GNAS, CTNNB1
4adrenal adenoma30.7GNAS, PRKAR1A, CYP19A1, POMC, CNC
5neuroendocrine tumor30.4SYP, CHGA, POMC, NCAM1, GNAS
6pituitary adenoma30.4GNAS, SYP, PRKAR1A, NR3C1, CHGA, POMC
7pigmentation disease11.2
8adrenal cortex disease10.5
9adrenal gland disease10.5
10image syndrome10.3
11acth-independent macronodular adrenal hyperplasia10.3
12pigmented nodular adrenocortical disease, primary, 210.3
13rhabdoid tumor10.0SYP
14thyroiditis10.0POMC
15meningitis10.0IGFBP2
16hepatitis10.0IGFBP2
17tuberous sclerosis10.0SYP
18atherosclerosis10.0ESR2
19leiomyosarcoma10.0PGR
20gangliocytoma10.0SYP
21sertoli-leydig cell tumor10.0PGR
22desmoid tumor10.0CTNNB1
23hyperthyroidism10.0GNAS
24phaeochromocytoma10.0CHGA
25hyperparathyroidism10.0CHGA, PRKAR1A
26bipolar disorder10.0NR3C1
27wermer syndrome10.0CHGA, PRKAR1A
28azoospermia10.0ESR2
29hypercalcemia10.0CHGA, PRKAR1A
30merkel cell carcinoma10.0CHGA, SYP
31rhabdomyosarcoma10.0NCAM1
32cervical cancer10.0NR3C1
33addison's disease10.0POMC
34alzheimer's disease10.0SYP, ESR2
35gastrinoma10.0CHGA, SYP
36mccune albright syndrome10.0PRKAR1A, GNAS
37growth hormone deficiency10.0IGFBP2, POMC
38anorexia nervosa10.0POMC, IGFBP2
39down syndrome10.0SMARCA4
40cholera10.0POMC, GNAS
41hypothyroidism10.0POMC, GNAS
42arthritis10.0POMC, ESR2
43cerebral meningioma10.0PGR
44central neurocytoma10.0CHGA, SYP
45hyperprolactinemia10.0GNAS, POMC
46hypertension10.0POMC, NR3C1
47acrodysostosis10.0PRKAR1A, GNAS
48pseudohermaphroditism10.0CYP19A1
49neuroblastoma10.0SYP, NCAM1
50thyroid adenoma10.0PRKAR1A, CNC, GNAS

Graphical network of the top 20 diseases related to Primary Pigmented Nodular Adrenocortical Disease:



Diseases related to primary pigmented nodular adrenocortical disease

Clinical Features for Primary Pigmented Nodular Adrenocortical Disease

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Drugs & Therapeutics for Primary Pigmented Nodular Adrenocortical Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Primary Pigmented Nodular Adrenocortical Disease

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Anatomical Context for Primary Pigmented Nodular Adrenocortical Disease

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Animal Models for Primary Pigmented Nodular Adrenocortical Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Pigmented Nodular Adrenocortical Disease:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.2NR3C1, ESR2
2MP:000537110.0SMARCA4
3MP:00053679.9CHGA, ESR2, GNAS, POMC
4MP:00053899.7NR3C1, PRKAR1A, CTNNB1
5MP:00107719.2SMARCA4, GNAS, CTNNB1, NR3C1, POMC
6MP:00053698.9CYP19A1, SMARCA4, PRKAR1A, ESR2, ESR1
7MP:00053758.6PRKAR1A, PRKACA, NR3C1, CYP19A1, ESR1, ESR2
8MP:00030128.4ESR2, ESR1, PGR, POMC, NR3C1, GNAS
9MP:00020068.4PRKAR1A, PGR, SMARCA4, ESR2, ESR1, POMC
10MP:00053768.3NR3C1, SMARCA4, ESR1, PGR, POMC, PRKACA
11MP:00053888.0ESR1, GNAS, CTNNB1, PRKAR1A, ESR2, SMARCA4
12MP:00053907.7PRKAR1A, PRKACB, PRKACA, NR3C1, CYP19A1, PGR
13MP:00028737.6SYP, CTNNB1, ESR2, PGR, CYP19A1, IGFBP2
14MP:00053707.4GNAS, SMARCA4, ESR2, ESR1, CYP19A1, CTNNB1
15MP:00053787.3PRKAR1A, CHGA, POMC, NR3C1, CYP19A1, ESR1
16MP:00053867.2CTNNB1, PRKACB, NCAM1, NR3C1, POMC, CYP19A1
17MP:00053847.1ESR1, GNAS, PRKAR1A, SMARCA4, ESR2, PGR
18MP:00053976.9ESR2, ESR1, PGR, CYP19A1, POMC, IGFBP2
19MP:00053876.8PRKAR1A, CTNNB1, NR3C1, IGFBP2, SMARCA4, ESR2
20MP:00107686.7PRKAR1A, CTNNB1, ESR1, PGR, POMC, CHGA
21MP:00036316.7NR3C1, POMC, SYP, NCAM1, PRKACA, PRKACB
22MP:00053856.5SMARCA4, GNAS, CTNNB1, PRKAR1A, PRKACA, NR3C1

Publications for Primary Pigmented Nodular Adrenocortical Disease

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Genetic Variations for Primary Pigmented Nodular Adrenocortical Disease

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Expression for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

Search GEO for disease gene expression data for Primary Pigmented Nodular Adrenocortical Disease.

Pathways for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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Sources:
53Reactome, 49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 29KEGG, 59Tocris Bioscience
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Pathways related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.4CYP19A1, ESR1, ESR2
2
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9.2PGR, NR3C1, ESR2, ESR1
39.1PRKACB, PRKACA, PRKACG
49.1PRKACB, PRKACG, PRKACA
59.1PRKACG, PRKACB, PRKACA
6
G-protein signaling Rap1B regulation pathway
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9.1PRKACG, PRKACA, PRKACB
78.9PRKAR1A, PRKACB, PRKACA, PRKACG
8
Development Leptin signaling via PI3K-dependent pathway
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8.9PRKACA, PRKAR1A, PRKACB, PRKACG
98.9PRKACA, PRKACB, PRKACG, PRKAR1A
108.9PRKACG, PRKACB, PRKACA, PRKAR1A
118.9PRKACG, PRKACB, PRKACA, PRKAR1A
128.9PRKACG, PRKACB, PRKAR1A, PRKACA
138.9GNAS, PRKACG, PRKACA, PRKACB
148.9PRKACB, PRKACA, GNAS, PRKACG
15
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8.9GNAS, PRKACB, PRKACG, PRKACA
168.9PRKACG, GNAS, PRKACB, PRKACA
178.8NCAM1, PRKACA, PRKACB, PRKACG
188.7PRKACA, POMC, PRKACG, PRKAR1A, PRKACB
19
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8.7PRKACB, PRKACG, PRKAR1A, PRKACA, GNAS
208.7PRKAR1A, GNAS, PRKACA, PRKACB, PRKACG
21
G-protein signaling G-Protein alpha-i signaling cascades
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8.7PRKACA, PRKAR1A, PRKACG, GNAS, PRKACB
22
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
8.7GNAS, PRKACB, PRKACG, PRKAR1A, PRKACA
23
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8.7PRKACG, PRKACB, PRKAR1A, GNAS, PRKACA
248.7GNAS, PRKACG, PRKAR1A, PRKACB, PRKACA
25
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8.7PRKACG, PRKACA, PRKACB, GNAS, PRKAR1A
26
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8.7PRKACA, PRKACB, PRKACG, GNAS, PRKAR1A
27
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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8.7GNAS, PRKACA, PRKACB, PRKACG, PRKAR1A
28
Development Dopamine D2 receptor transactivation of EGFR
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8.7PRKACG, PRKAR1A, GNAS, PRKACB, PRKACA
298.7NR3C1, ESR2, PRKACB, PRKAR1A, CTNNB1, PRKACA
308.6CTNNB1, PRKAR1A, PRKACB, PRKACA, PRKACG
31
Development A3 receptor signaling
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8.6PRKACA, PRKACB, CTNNB1, PRKAR1A, PRKACG
32
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8.6PRKACB, PRKACA, PRKACG, GNAS, CTNNB1
338.5PRKACG, GNAS, PRKACB, PRKACA, CYP19A1
34
Signal transduction cAMP signaling
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8.5PRKACB, PRKACG, PRKAR1A, PDE8B, GNAS, PRKACA
35
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8.5IGFBP2, PRKACA, GNAS, PRKAR1A, PRKACB
368.5PRKACG, PRKACB, SMARCA4, PRKAR1A, PRKACA
378.5GNAS, PRKACB, PRKACA, PRKACG, ESR1
38
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8.5PRKAR1A, PRKACG, PRKACA, POMC, PRKACB, GNAS
39
Transcription Role of VDR in regulation of genes involved in osteoporosis
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8.4PRKACB, PRKACG, NR3C1, PRKACA, CYP19A1
40
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8.4PRKACG, PDE11A, PRKACB, PRKACA, GNAS, PDE8B
41
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8.4PRKACG, PRKACA, PRKAR1A, PDE11A, GNAS, PRKACB
428.4PRKACB, PRKACG, CTNNB1, ESR1, PRKACA
43
Development A2B receptor- action via G-protein alpha s
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8.4PRKAR1A, PRKACA, PRKACB, PRKACG, GNAS, CTNNB1
44
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8.4PRKACA, PRKACB, GNAS, PRKACG, CTNNB1, PRKAR1A
45
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8.3POMC, CTNNB1, GNAS, PRKACA, PRKACG, PRKACB
468.1POMC, PRKACA, PRKACB, PRKACG, NR3C1, SMARCA4
47
Development Ligand-independent activation of ESR1 and ESR2
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8.0PRKACB, GNAS, PRKAR1A, PRKACG, ESR2, ESR1
48
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8.0PRKACA, CTNNB1, PRKAR1A, PRKACB, ESR1, ESR2
49
Development Endothelin-1/EDNRA signaling
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7.9GNAS, CTNNB1, PRKACG, PRKACB, PRKACA, ESR2
50
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7.0PRKACG, PRKACB, PRKACA, POMC, PGR, ESR1

Compounds for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB
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Compounds related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 176)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.0IGFBP2
2dexamethasone44 49 28 1112.9POMC, CTNNB1, PRKACA, NR3C1
3idoxifene449.7CYP19A1, ESR1, PGR
4betamethasone44 1110.7NR3C1, SYP, POMC, CYP19A1
5trilostane44 1110.6ESR2, NR3C1, ESR1, PGR
6estradiol benzoate449.5ESR2, ESR1, PGR, CYP19A1
7aminoglutethimide44 1110.5ESR1, POMC, NR3C1, CYP19A1
8leuprolide acetate449.5CYP19A1, PGR, ESR1, ESR2
9exemestane49 44 59 1112.4ESR2, ESR1, CYP19A1, PGR
10bisphenol a449.4ESR1, PGR, ESR2, CYP19A1
11clomiphene citrate449.4PGR, CYP19A1, ESR2, ESR1
12letrozole44 49 59 1112.4ESR1, PGR, CYP19A1, SYP, ESR2
13toremifene44 1110.4ESR1, ESR2, CYP19A1, PGR
14camps-sp, triethylammonium salt599.3PRKACG, PRKACB, PRKACA, PRKAR1A
15pka inhibitor fragment (6-22) amide599.3PRKAR1A, PRKACA, PRKACB, PRKACG
16h 89 dihydrochloride599.3PRKACB, PRKACA, PRKAR1A, PRKACG
17pki 14-22 amide, myristoylated599.3PRKACA, PRKACB, PRKACG, PRKAR1A
18megestrol acetate449.3POMC, CYP19A1, PGR, NR3C1, ESR1
19nandrolone44 2410.3PGR, ESR2, NR3C1, CYP19A1, ESR1
20fulvestrant44 49 28 1112.3ESR2, ESR1, PGR, CYP19A1
21cyproteroneacetate449.2CYP19A1, PGR, CTNNB1, NR3C1
22megestrol44 1110.2PGR, NR3C1, CYP19A1
23dopamine44 28 11 2412.1GNAS, ESR2, NR3C1, NCAM1, CHGA, CTNNB1
24forskolin44 49 1111.1PRKACA, PRKAR1A, IGFBP2, POMC
25kt 572044 28 5911.1PRKAR1A, PRKACG, PRKACB, PRKACA
26levonorgestrel44 59 28 1112.1PGR, CYP19A1, ESR2, ESR1
27gaba449.0PGR, POMC, CHGA, NR3C1, NCAM1, SYP
284-hydroxytamoxifen448.9ESR1, CTNNB1, CYP19A1, PGR, ESR2, NR3C1
29dhea448.7NR3C1, ESR2, CYP19A1, POMC, IGFBP2
30mifepristone44 59 28 1111.7ESR2, CYP19A1, PGR, ESR1, NR3C1, POMC
31vitamin d448.7CHGA, ESR2, ESR1, CYP19A1, NR3C1, PRKAR1A
32acth448.6GNAS, SYP, CHGA, IGFBP2, POMC, NR3C1
33paraffin448.6CTNNB1, PGR, ESR1, NCAM1, SYP, CHGA
34bicalutamide44 59 1110.5IGFBP2, CYP19A1, ESR2, ESR1, CTNNB1, CHGA
35steroidal448.4PGR, ESR2, ESR1, CYP19A1, IGFBP2, NR3C1
36progestins448.4ESR2, ESR1, CYP19A1, IGFBP2, NR3C1, PGR
37doxorubicin44 49 1110.4PGR, NCAM1, NR3C1, CYP19A1, ESR1, ESR2
38gnrh448.4ESR2, PGR, CYP19A1, IGFBP2, NCAM1, GNAS
39progestin448.2ESR2, ESR1, PGR, CYP19A1, IGFBP2, NR3C1
40tamoxifen44 49 28 1111.1ESR1, PGR, ESR2, CYP19A1, IGFBP2, CHGA
41dihydrotestosterone44 28 11 2411.1CTNNB1, ESR2, IGFBP2, CYP19A1, PGR, ESR1
42steroid448.0GNAS, CYP19A1, PRKAR1A, SYP, IGFBP2, POMC
43cysteine448.0CTNNB1, SMARCA4, ESR2, PGR, CHGA, GNAS
44estradiol44 11 2410.0ESR1, POMC, CYP19A1, PGR, IGFBP2, ESR2
45vegf447.5ESR1, POMC, ESR2, PGR, IGFBP2, NR3C1
46retinoic acid44 248.3CHGA, PGR, ESR2, ESR1, CTNNB1, CYP19A1
47cyclic amp44 248.3CNC, PRKACA, SYP, CHGA, PRKACB, GNAS
48arginine447.1CYP19A1, PRKAR1A, SMARCA4, POMC, CHGA, GNAS
49testosterone44 59 11 249.7PGR, ESR1, SMARCA4, CYP19A1, POMC, IGFBP2
50progesterone44 59 28 11 2410.5IGFBP2, POMC, CYP19A1, PGR, ESR1, ESR2

GO Terms for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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16Gene Ontology
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Cellular components related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1AMP-activated protein kinase complexGO:0315889.8PRKACA, PRKAR1A
2cAMP-dependent protein kinase complexGO:0059529.6PRKACA, PRKACB, PRKAR1A
3membraneGO:0160208.6GNAS, CTNNB1, PRKACA, NR3C1, CYP19A1, ESR1
4nucleoplasmGO:0056548.4PRKACB, NR3C1, PGR, ESR1, ESR2, CTNNB1
5cytosolGO:0058297.5GNAS, PDE8B, PDE11A, CTNNB1, PRKAR1A, PRKACG

Biological processes related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1glial cell fate determinationGO:00740310.0CTNNB1, SMARCA4
2uterus developmentGO:06006510.0ESR2, ESR1
3vagina developmentGO:0600689.8ESR1, ESR2
4negative regulation of androgen receptor signaling pathwayGO:0607669.8SMARCA4, ESR2
5embryonic hindlimb morphogenesisGO:0351169.8SMARCA4, CTNNB1, GNAS
6transcription initiation from RNA polymerase II promoterGO:0063679.4NR3C1, PGR, ESR1, ESR2
7triglyceride catabolic processGO:0194339.4PRKACG, PRKACB, PRKACA
8positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.4SMARCA4, ESR2, ESR1
9gluconeogenesisGO:0060949.4PRKACA, PRKACB, PRKACG
10activation of protein kinase A activityGO:0341999.3PRKAR1A, PRKACG, PRKACB, PRKACA
11activation of phospholipase C activityGO:0072029.2PRKACA, PRKACB, PRKACG, PRKAR1A
12fibroblast growth factor receptor signaling pathwayGO:0085439.2PRKAR1A, PRKACG, PRKACB, PRKACA
13epidermal growth factor receptor signaling pathwayGO:0071739.1PRKACA, PRKACB, PRKACG, PRKAR1A
14response to estradiol stimulusGO:0323559.1CTNNB1, IGFBP2, ESR1
15cellular response to glucagon stimulusGO:0713779.0GNAS, PRKAR1A, PRKACG, PRKACB, PRKACA
16water transportGO:0068339.0PRKACA, PRKACB, PRKACG, PRKAR1A, GNAS
17regulation of insulin secretionGO:0507969.0PRKACA, PRKACB, PRKACG, PRKAR1A, GNAS
18energy reserve metabolic processGO:0061129.0GNAS, PRKAR1A, PRKACG, PRKACB, PRKACA
19neurotrophin TRK receptor signaling pathwayGO:0480118.8PRKACA, PRKACB, PRKACG, PRKAR1A
20intracellular protein kinase cascadeGO:0072438.8PRKACG, PRKACB, PRKACA
21transmembrane transportGO:0550858.8GNAS, PRKAR1A, PRKACG, PRKACB, PRKACA
22blood coagulationGO:0075968.7GNAS, PDE11A, PRKAR1A, PRKACG, PRKACB, PRKACA
23signal transductionGO:0071656.7ESR2, PDE11A, PRKAR1A, PRKACG, PRKACB, PRKACA

Molecular functions related to Primary Pigmented Nodular Adrenocortical Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1estrogen response element bindingGO:0340569.9ESR2, ESR1
2estrogen receptor activityGO:0302849.8ESR2, ESR1
3core promoter sequence-specific DNA bindingGO:0010469.8ESR2, ESR1
43,5-cyclic-nucleotide phosphodiesterase activityGO:0041149.7PDE11A, PDE8B
5steroid hormone receptor activityGO:0037079.6PGR, ESR1, ESR2
6steroid bindingGO:0054969.4ESR2, ESR1, PGR, NR3C1
7cAMP-dependent protein kinase activityGO:0046919.3PRKACG, PRKACB, PRKACA
8enzyme bindingGO:0198999.1CTNNB1, PGR, ESR1, ESR2

Products for genes affiliated with Primary Pigmented Nodular Adrenocortical Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Pigmented Nodular Adrenocortical Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet