MCID: CRN038
MIFTS: 51

Carney Complex Variant

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Carney Complex Variant

MalaCards integrated aliases for Carney Complex Variant:

Name: Carney Complex Variant 54 12 24 56 71 29 13 69
Carney Complex 12 23 50 24 25 29 42 14 69
Carney Syndrome 12 23 50 24 25
Carney Complex, Type 1 12 69
Carney Complex, Type 2 12 29
Lamb Syndrome 12 50
Name Syndrome 12 50
Car 50 3
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome 25
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome 25
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome 50
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 50
Myxoma - Spotty Pigmentation - Endocrine Overactivity 50
Carney Complex-Trismus-Pseudocamptodactyly Syndrome 56
Carney Myxoma-Endocrine Complex 50
Carney Complex, Type Ii 13
Familial Myxoma 24
Cacov 71
Cnc1 50

Characteristics:

HPO:

32
carney complex variant:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The overall penetrance of cnc in those with a prkar1a pathogenic variant is greater than 95% by age 50 years...

Classifications:



Summaries for Carney Complex Variant

UniProtKB/Swiss-Prot : 71 Carney complex variant: Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.

MalaCards based summary : Carney Complex Variant, also known as carney complex, is related to carney complex, type 1 and primary pigmented nodular adrenocortical disease, and has symptoms including hirsutism, trismus and congestive heart failure. An important gene associated with Carney Complex Variant is MYH8 (Myosin Heavy Chain 8), and among its related pathways/superpathways are Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include skin, thyroid and pituitary, and related phenotypes are Decreased viability and cardiovascular system

Disease Ontology : 12 An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.

Genetics Home Reference : 25 Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.

NIH Rare Diseases : 50 carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. some families with this condition have been found to have mutations in the prkar1a gene. carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. in most cases, an affected person inherits the mutation from one affected parent. last updated: 4/6/2015

CDC : 3 Supported by CDC research, collaborations, or technical assistance (no staff or physical presence)

Description from OMIM: 608837
GeneReviews: NBK1286

Related Diseases for Carney Complex Variant

Diseases in the Carney Complex Variant family:

Carney Complex, Type 1

Diseases related to Carney Complex Variant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
id Related Disease Score Top Affiliating Genes
1 carney complex, type 1 12.4
2 primary pigmented nodular adrenocortical disease 11.2
3 acromegaly 11.2
4 pigmented nodular adrenocortical disease, primary, 1 11.0
5 gigantism 10.8
6 thyroid cancer, nonmedullary, 2 10.8
7 thyroid cancer, nonmedullary, 1 10.8
8 adrenal carcinoma 10.8
9 acth-independent macronodular adrenal hyperplasia 10.8
10 extraskeletal ewing sarcoma 10.7 AIP MEN1
11 didymosis aplasticosebacea 10.7 AIP MEN1
12 familial myelofibrosis 10.5 AIP CDKN1B
13 pseudohypoparathyroidism, type ib 10.5 GNAS PRKAR1A
14 osseous heteroplasia, progressive 10.3 GNAS MEN1 PRKAR1A
15 epileptic encephalopathy, early infantile, 26 10.3 GNAS PDE11A
16 vertebral artery occlusion 10.3 AIP POMC
17 sporadic hemiplegic migraine 10.2 CDKN1B MEN1 PRKAR1A
18 hyperparathyroidism, familial primary 10.2 CDKN1B MEN1 PRKAR1A
19 protein s deficiency 10.2 AIP POMC
20 renal pelvis carcinoma 10.2 GNAS POMC
21 subserous uterine fibroid 10.2 CDKN1B MEN1 PRKAR1A
22 adenoma 10.2
23 epilepsy idiopathic generalized 8 10.2 GNAS PRKAR1A
24 strabismus 10.1 AIP MEN1 POMC
25 trabecular follicular adenocarcinoma 10.1 PDE11A POMC PRKAR1A
26 mononeuritis of upper limb and mononeuritis multiplex 10.1 AIP GNAS MEN1 PRKAR1A
27 cardiovascular organ benign neoplasm 10.1 AIP MEN1 POMC
28 vestibular gland benign neoplasm 10.1 AIP MEN1 POMC
29 peritoneal benign neoplasm 10.1 POMC PRKAR1A
30 sifrim-hitz-weiss syndrome 10.1 AIP CDKN1B MEN1 PRKAR1A
31 pituitary adenoma 10.1
32 epidermolysis bullosa simplex-mcr 10.1 GNAS POMC
33 early-onset parkinson disease 10.1 MEN1 POMC
34 cold-induced sweating syndrome 2 10.1 AIP GNAS POMC
35 psychogenic movement 10.0 GNAS MEN1 POMC
36 immunodeficiency, common variable, 5 10.0 CDKN1B GNAS MEN1 PRKAR1A
37 peutz-jeghers syndrome 9.9
38 glassy cell carcinoma of the cervix 9.9 AIP GPR101
39 thyroiditis 9.9
40 multiple endocrine neoplasia 9.9
41 sertoli cell tumor 9.9
42 male reproductive organ benign neoplasm 9.8 AIP GNAS MEN1 POMC
43 cushing's syndrome 9.8
44 aneurysm 9.8
45 pituitary adenoma, prolactin-secreting 9.8 AIP GNAS GPR101
46 bronchiectasis 9.8 POMC PRKAR1A
47 male infertility 9.6
48 ectopic thymus 9.6
49 cowden disease 9.6
50 intracranial aneurysm 9.6

Graphical network of the top 20 diseases related to Carney Complex Variant:



Diseases related to Carney Complex Variant

Symptoms & Phenotypes for Carney Complex Variant

Clinical features from OMIM:

608837

Human phenotypes related to Carney Complex Variant:

32 (show all 40)
id Description HPO Frequency HPO Source Accession
1 hirsutism 32 frequent (33%) HP:0001007
2 trismus 32 HP:0000211
3 congestive heart failure 32 occasional (7.5%) HP:0001635
4 colon cancer 32 very rare (1%) HP:0003003
5 pigmented micronodular adrenocortical disease 32 obligate (100%) HP:0001580
6 pigmentation of the sclera 32 occasional (7.5%) HP:0007832
7 thyroid adenoma 32 frequent (33%) HP:0000854
8 red hair 32 occasional (7.5%) HP:0002297
9 thyroid carcinoma 32 occasional (7.5%) HP:0002890
10 multiple lentigines 32 hallmark (90%) HP:0001003
11 parathyroid adenoma 32 very rare (1%) HP:0002897
12 vestibular schwannoma 32 frequent (33%) HP:0009588
13 adrenocortical carcinoma 32 very rare (1%) HP:0006744
14 profuse pigmented skin lesions 32 frequent (33%) HP:0005587
15 thyroid follicular hyperplasia 32 frequent (33%) HP:0008225
16 enlarged polycystic ovaries 32 frequent (33%) HP:0008675
17 distal arthrogryposis 32 HP:0005684
18 osteochondroma 32 very rare (1%) HP:0030431
19 growth hormone excess 32 frequent (33%) HP:0000845
20 pituitary prolactin cell adenoma 32 occasional (7.5%) HP:0006767
21 pituitary growth hormone cell adenoma 32 frequent (33%) HP:0011760
22 increased urinary cortisol level 32 frequent (33%) HP:0012030
23 neoplasm of the pancreas 32 very rare (1%) HP:0002894
24 stomach cancer 32 very rare (1%) HP:0012126
25 blue nevus 32 frequent (33%) HP:0100814
26 bronchogenic cyst 32 very rare (1%) HP:0100730
27 uterine neoplasm 32 occasional (7.5%) HP:0010784
28 increased circulating cortisol level 32 frequent (33%) HP:0003118
29 abnormality of circulating adrenocorticotropin level 32 frequent (33%) HP:0011043
30 abnormal prolactin level 32 frequent (33%) HP:0040086
31 peripheral schwannoma 32 frequent (33%) HP:0009593
32 sertoli cell neoplasm 32 very rare (1%) HP:0100619
33 cafe-au-lait spot 32 very rare (1%) HP:0000957
34 recurrent paroxysmal headache 32 occasional (7.5%) HP:0002331
35 histiocytoma 32 very rare (1%) HP:0012315
36 hypertension associated with pheochromocytoma 32 occasional (7.5%) HP:0002640
37 adrenal pheochromocytoma 32 occasional (7.5%) HP:0006748
38 hepatocellular adenoma 32 very rare (1%) HP:0012028
39 fibroadenoma of the breast 32 occasional (7.5%) HP:0010619
40 cardiac myxoma 32 frequent (33%) HP:0011672

GenomeRNAi Phenotypes related to Carney Complex Variant according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.61 PRKAR1B CDKN1B PRKACB PRKAR1A
2 Decreased viability GR00221-A-2 9.61 PRKAR1B PRKAR1A
3 Decreased viability GR00221-A-3 9.61 PRKAR1A PRKAR1B
4 Decreased viability GR00221-A-4 9.61 PRKAR1A
5 Decreased viability in esophageal squamous lineage GR00235-A 9.23 CDKN1B GNAS MEN1 PDE8B POMC PRKAR1A

MGI Mouse Phenotypes related to Carney Complex Variant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 PRKAR1A AIP CDKN1B F10 GNAS GPR101
2 liver/biliary system MP:0005370 9.43 AIP CDKN1B GNAS MEN1 POMC PRKAR1A
3 neoplasm MP:0002006 9.1 AIP CDKN1B GNAS MEN1 POMC PRKAR1A

Drugs & Therapeutics for Carney Complex Variant

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Carney Complex Variant

Cochrane evidence based reviews: carney complex

Genetic Tests for Carney Complex Variant

Genetic tests related to Carney Complex Variant:

id Genetic test Affiliating Genes
1 Carney Complex 29 24 PRKAR1A
2 Carney Complex Variant 29 24 MYH8
3 Carney Complex, Type 2 29

Anatomical Context for Carney Complex Variant

MalaCards organs/tissues related to Carney Complex Variant:

39
Skin, Thyroid, Pituitary, Bone, Heart, Breast, Pancreas

Publications for Carney Complex Variant

Articles related to Carney Complex Variant:

id Title Authors Year
1
Mutation of perinatal myosin heavy chain associated with a Carney complex variant. ( 15282353 )
2004

Variations for Carney Complex Variant

UniProtKB/Swiss-Prot genetic disease variations for Carney Complex Variant:

71
id Symbol AA change Variation ID SNP ID
1 MYH8 p.Arg674Gln VAR_019810 rs28932773

ClinVar genetic disease variations for Carney Complex Variant:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_212472.2(PRKAR1A): c.491_492delTG (p.Val164Aspfs) deletion Pathogenic rs281864790 GRCh37 Chromosome 17, 66520207: 66520208
2 PRKAR1A NM_212472.2(PRKAR1A): c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) indel Pathogenic rs281864785 GRCh37 Chromosome 17, 66525027: 66525028
3 PRKAR1A NM_212472.2(PRKAR1A): c.891+3A> G single nucleotide variant Pathogenic rs281864799 GRCh37 Chromosome 17, 66525135: 66525135
4 PRKAR1A PRKAR1A, 1-BP DEL, 710G deletion Pathogenic
5 PRKAR1A PRKAR1A, 2-BP DEL, 845TC deletion Pathogenic
6 PRKAR1A PRKAR1A, 2-BP DEL, 576TG deletion Pathogenic
7 PRKAR1A NM_212472.2(PRKAR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs281864779 GRCh37 Chromosome 17, 66511541: 66511541
8 PRKAR1A NM_212472.2(PRKAR1A): c.708+1G> T single nucleotide variant Pathogenic rs281864798 GRCh37 Chromosome 17, 66522054: 66522054
9 PRKAR1A NM_212472.2(PRKAR1A): c.709-7_709-2delTTTTTA deletion Pathogenic rs281864801 GRCh37 Chromosome 17, 66523974: 66523979
10 MYH8 NM_002472.2(MYH8): c.2021G> A (p.Arg674Gln) single nucleotide variant Pathogenic rs121434590 GRCh37 Chromosome 17, 10310241: 10310241
11 PRKAR1A NM_212472.2(PRKAR1A): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs281864783 GRCh38 Chromosome 17, 68522864: 68522864
12 PRKAR1A NM_212472.2(PRKAR1A): c.101_105delCTATT (p.Ser34Cysfs) deletion Pathogenic rs281864788 GRCh37 Chromosome 17, 66511641: 66511645
13 PRKAR1A NM_212472.2(PRKAR1A): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs281864781 GRCh37 Chromosome 17, 66511649: 66511649
14 PRKAR1A NM_212472.2(PRKAR1A): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs281864782 GRCh37 Chromosome 17, 66511664: 66511664
15 PRKAR1A NM_212472.2(PRKAR1A): c.139delA (p.Met47Trpfs) deletion Pathogenic rs281864789 GRCh37 Chromosome 17, 66511679: 66511679
16 PRKAR1A NM_212472.2(PRKAR1A): c.178-2A> G single nucleotide variant Pathogenic rs281864796 GRCh37 Chromosome 17, 66518895: 66518895
17 PRKAR1A NM_212472.2(PRKAR1A): c.178_348del171 (p.Glu60_Lys116del) deletion Pathogenic GRCh37 Chromosome 17, 66518897: 66519067
18 PRKAR1A NM_212472.2(PRKAR1A): c.348+1G> C single nucleotide variant Pathogenic rs281864797 GRCh37 Chromosome 17, 66519068: 66519068
19 PRKAR1A NM_212472.2(PRKAR1A): c.550-9_550-2delGCACTTTA deletion Pathogenic rs281864800 GRCh37 Chromosome 17, 66521886: 66521893
20 PRKAR1A NM_212472.2(PRKAR1A): c.566_567delAAinsCAC (p.Glu189Alafs) indel Pathogenic rs281864792 GRCh37 Chromosome 17, 66521911: 66521912
21 PRKAR1A NM_212472.2(PRKAR1A): c.638C> A (p.Ala213Asp) single nucleotide variant Pathogenic rs281864786 GRCh37 Chromosome 17, 66521983: 66521983
22 PRKAR1A NM_212472.2(PRKAR1A): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs281864784 GRCh37 Chromosome 17, 66522027: 66522027
23 PRKAR1A NM_212472.2(PRKAR1A): c.693_694insT (p.Arg232Terfs) insertion Pathogenic rs281864793 GRCh37 Chromosome 17, 66522038: 66522038
24 PRKAR1A NM_212472.2(PRKAR1A): c.712_713insAA (p.Ser238Lysfs) insertion Pathogenic rs281864794 GRCh37 Chromosome 17, 66523983: 66523984
25 PRKAR1A NM_212472.2(PRKAR1A): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs281864780 GRCh37 Chromosome 17, 66511622: 66511622
26 PRKAR1A NM_212472.2(PRKAR1A): c.846_847insA (p.Val283Serfs) insertion Pathogenic rs281864795 GRCh37 Chromosome 17, 66525087: 66525088
27 PRKAR1A NM_212472.2(PRKAR1A): c.85_95delGCGCTGCTCAA (p.Ala29Argfs) deletion Pathogenic rs281864787 GRCh37 Chromosome 17, 66511625: 66511635
28 PRKAR1A NM_002734.4(PRKAR1A): c.623delG (p.Gly208Glufs) deletion Pathogenic rs727503379 GRCh37 Chromosome 17, 66521968: 66521968
29 PRKAR1A NC_000017.11: g.(?_68512379)_(68512548_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68512548
30 PRKAR1A NC_000017.11: g.(?_68512379)_(68533431_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68533431
31 PRKAR1A NC_000017.11: g.(?_68515394)_(68515576_?)del deletion Pathogenic GRCh38 Chromosome 17, 68515394: 68515576
32 PRKAR1A NC_000017.11: g.(?_68528870)_(68530449_?)del deletion Pathogenic GRCh38 Chromosome 17, 68528870: 68530449
33 PRKAR1A NM_212472.2(PRKAR1A): c.177+3A> G single nucleotide variant Pathogenic rs797044568 GRCh37 Chromosome 17, 66511720: 66511720

Expression for Carney Complex Variant

Search GEO for disease gene expression data for Carney Complex Variant.

Pathways for Carney Complex Variant

Pathways related to Carney Complex Variant according to GeneCards Suite gene sharing:

(show all 41)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 CDKN1B GNAS MEN1 PDE11A PDE8B POMC
2
Show member pathways
13.2 F10 GNAS PDE11A PRKACB PRKAR1A PRKAR1B
3
Show member pathways
12.94 GNAS MYH8 PRKACB PRKAR1A PRKAR1B
4
Show member pathways
12.78 GNAS POMC PRKACB PRKAR1A PRKAR1B
5
Show member pathways
12.71 CDKN1B GNAS PDE8B POMC PRKACB PRKAR1A
6
Show member pathways
12.68 GNAS PRKACB PRKAR1A PRKAR1B
7
Show member pathways
12.55 GNAS PRKACB PRKAR1A PRKAR1B
8
Show member pathways
12.55 GNAS PRKACB PRKAR1A PRKAR1B
9
Show member pathways
12.49 GNAS PRKACB PRKAR1A PRKAR1B
10
Show member pathways
12.46 GNAS PRKACB PRKAR1A PRKAR1B
11
Show member pathways
12.45 GNAS PDE11A PDE8B PRKACB
12
Show member pathways
12.42 GNAS PRKACB PRKAR1A PRKAR1B
13
Show member pathways
12.33 GNAS PRKACB PRKAR1A PRKAR1B
14
Show member pathways
12.33 GNAS POMC PRKACB PRKAR1A PRKAR1B
15
Show member pathways
12.31 GNAS PRKACB PRKAR1A PRKAR1B
16
Show member pathways
12.27 GNAS PRKACB PRKAR1A PRKAR1B
17
Show member pathways
12.25 GNAS PRKACB PRKAR1A PRKAR1B
18 12.24 GNAS PRKACB PRKAR1A PRKAR1B
19
Show member pathways
12.2 GNAS PRKACB PRKAR1A PRKAR1B
20
Show member pathways
12.09 GNAS PRKACB PRKAR1B
21 12.07 PRKACB PRKAR1A PRKAR1B
22
Show member pathways
12.07 GNAS PRKACB PRKAR1A PRKAR1B
23 12.05 PRKACB PRKAR1A PRKAR1B
24
Show member pathways
12.05 GNAS PRKACB PRKAR1A PRKAR1B
25
Show member pathways
12.03 GNAS PRKAR1A PRKAR1B
26 12.03 GNAS PRKACB PRKAR1A PRKAR1B
27 11.96 GNAS PDE11A PDE8B POMC
28
Show member pathways
11.8 GNAS PRKACB PRKAR1A PRKAR1B
29 11.65 PRKACB PRKAR1A PRKAR1B
30
Show member pathways
11.63 GNAS PRKACB PRKAR1A PRKAR1B
31 11.62 GNAS PRKACB PRKAR1A PRKAR1B
32 11.57 GNAS PRKACB PRKAR1A PRKAR1B
33 11.46 PRKACB PRKAR1A PRKAR1B
34 11.42 PRKACB PRKAR1A PRKAR1B
35 11.39 PRKACB PRKAR1A PRKAR1B
36 11.21 PRKACB PRKAR1A PRKAR1B
37 11.14 PRKACB PRKAR1A PRKAR1B
38 11.07 PRKACB PRKAR1B
39 11.07 POMC PRKACB PRKAR1A PRKAR1B
40 10.85 GNAS PRKACB PRKAR1A PRKAR1B
41 10.29 GNAS PRKACB PRKAR1A PRKAR1B

GO Terms for Carney Complex Variant

Cellular components related to Carney Complex Variant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.9 AIP CDKN1B GNAS MEN1 MYH8 PDE11A
2 ciliary base GO:0097546 9.13 PRKACB PRKAR1A PRKAR1B
3 cAMP-dependent protein kinase complex GO:0005952 8.8 PRKACB PRKAR1A PRKAR1B

Biological processes related to Carney Complex Variant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 GNAS GPR101 PDE11A PDE8B POMC PRKACB
2 blood coagulation GO:0007596 9.56 F10 PRKACB PRKAR1A PRKAR1B
3 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.43 CDKN1B MEN1
4 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.37 GNAS GPR101
5 activation of protein kinase A activity GO:0034199 9.33 PRKACB PRKAR1A PRKAR1B
6 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.32 PRKAR1A PRKAR1B
7 cellular response to glucagon stimulus GO:0071377 9.26 GNAS PRKACB PRKAR1A PRKAR1B
8 renal water homeostasis GO:0003091 8.92 GNAS PRKACB PRKAR1A PRKAR1B

Molecular functions related to Carney Complex Variant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cAMP binding GO:0030552 9.37 PRKAR1A PRKAR1B
2 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.32 PDE11A PDE8B
3 3,5-cyclic-AMP phosphodiesterase activity GO:0004115 9.26 PDE11A PDE8B
4 protein kinase A catalytic subunit binding GO:0034236 9.16 PRKAR1A PRKAR1B
5 cAMP-dependent protein kinase inhibitor activity GO:0004862 8.96 PRKAR1A PRKAR1B
6 cAMP-dependent protein kinase regulator activity GO:0008603 8.62 PRKAR1A PRKAR1B

Sources for Carney Complex Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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