MCID: FML024
MIFTS: 51

Familial Melanoma malady

Genetic diseases category

Summaries for Familial Melanoma

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63Wikipedia, 32MalaCards
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Wikipedia:63 Dysplastic nevus syndrome (also known as \"Familial atypical multiple mole–melanoma (FAMMM)... more...

MalaCards: Familial Melanoma, also known as melanoma, familial, is related to melanoma and pancreatitis. An important gene associated with Familial Melanoma is ASIP (agouti signaling protein), and among its related pathways are Cell Cycle and Inhibition of Ribosome Biogenesis by p14(ARF). The compounds fascaplysin and phaeomelanin have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and breast, and related mouse phenotypes are pigmentation and embryogenesis.

Aliases & Classifications for Familial Melanoma

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

familial melanoma 8
melanoma, familial 42
cutaneous melanoma 60


External Ids:

Disease Ontology8 DOID:6846
NCIt39 C8498

Related Diseases for Familial Melanoma

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Melanoma family:

familial melanoma

Diseases related to Familial Melanoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma31.3CDKN2C, BRAF, IFNA1, MGMT, MDM2, NRAS
2pancreatitis30.3NRAS
3intraocular melanoma30.3CDKN2A, MC1R, CDK4, BRAF, NRAS, MDM2
4breast cancer30.3PALB2, CDKN2A, MC1R, AXIN2, CDK4, BRAF
5pancreatic cancer30.2CDK6, CDKN2A, CDK4, BRAF, NRAS
6sarcoma30.2CDK4, CDK6, BRAF, NRAS, MDM2
7xeroderma pigmentosum30.1MGMT, RPA2
8retinoblastoma30.1CDKN2C, MDM2, CDKN2A, CDK4, CDK6
9rhabdomyosarcoma29.9MDM2, CDK4
10hepatitis29.9IFNA1
11prostate cancer29.9MC1R, CDK4, CDKN2C, CDK6, MDM2
12astrocytoma29.8MDM2, CDKN2A, MGMT, CDK4
13skin melanoma10.2
14clear cell sarcoma10.2
15dysplastic nevus syndrome10.1
16neuronitis10.1
17paraganglioma10.1
18basal cell carcinoma10.1
19plasma cell leukemia10.0CDK4
20multiple myeloma10.0CDKN2A
21gliosarcoma10.0CDK4
22myeloid leukemia10.0CDK4
23acute leukemia10.0CDKN2C
24ocular melanoma10.0MC1R
25meningioma10.0CDKN2C
26parathyroid adenoma10.0CDKN2C
27fibrosarcoma10.0MDM2
28thyroiditis10.0IFNA1
29spitz nevus10.0BRAF
30kidney cancer10.0IFNA1
31testicular cancer10.0MGMT
32hepatoblastoma10.0AXIN2
33anaplastic ependymoma10.0MDM2
34pilocytic astrocytoma10.0CDK4, MGMT
35leukoplakia10.0MGMT
36gallbladder cancer10.0NRAS
37kaposi's sarcoma10.0IFNA1
38dedifferentiated liposarcoma10.0CDK4, MDM2
39pituitary adenoma10.0MGMT, CDK4
40myeloma10.0CDKN2C, IFNA1
41thyroid cancer10.0CDK6, BRAF
42lipoma10.0MDM2, CDK4
43laryngeal squamous cell carcinoma10.0CDKN2A, MGMT
44myxoid liposarcoma10.0MDM2, CDK4
45ependymoma10.0MDM2, MGMT
46malignant peripheral nerve sheath tumor10.0CDK4, MDM2, CDKN2A
47bladder carcinoma10.0MDM2, CDKN2A
48oculocutaneous albinism type 210.0OCA2
49myelodysplastic syndromes10.0CDKN2C, NRAS
50obesity10.0MC1R, ASIP

Graphical network of the top 20 diseases related to Familial Melanoma:



Diseases related to familial melanoma

Clinical Features for Familial Melanoma

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Drugs & Therapeutics for Familial Melanoma

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

Search CenterWatch for Familial Melanoma

Drug clinical trials:

Search ClinicalTrials for Familial Melanoma

Search NIH Clinical Center for Familial Melanoma

Search CenterWatch for Familial Melanoma

Genetic Tests for Familial Melanoma

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Anatomical Context for Familial Melanoma

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32MalaCards
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MalaCards organs/tissues related to Familial Melanoma:

32
Testes, Skin, Breast, Pancreas, Testis, Monocytes, Endothelial, T cells

Animal Models for Familial Melanoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Melanoma:

36 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.1OCA2, ASIP
2MP:00053809.9ASIP, PALB2, AXIN2
3MP:00053679.8OCA2, ASIP
4MP:00053919.7ASIP, AXIN2, OCA2
5MP:00053719.5OCA2, AXIN2, PALB2, ASIP
6MP:00053899.5BRAF, OCA2, CDKN2A, CDKN2C
7MP:00053909.1OCA2, AXIN2, PTPRD, ASIP
8MP:00036319.0CDK4, AXIN2, PALB2, PTPRD, ASIP
9MP:00053828.7ASIP, MC1R, AXIN2, OCA2, MDM2, BRAF
10MP:00030128.4MGMT, MDM2, NRAS, OCA2, CDKN2A, MC1R
11MP:00053818.3BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK4
12MP:00053698.1PTPRD, CDK4, CDK6, CDKN2A, MDM2, BRAF
13MP:00053868.0BRAF, MDM2, OCA2, CDKN2A, CDK4, CDKN2C
14MP:00107718.0MDM2, NRAS, OCA2, CDKN2A, CDK4, CDKN2C
15MP:00053797.9MGMT, OCA2, CDKN2A, CDK6, CDK4, CDKN2C
16MP:00053707.8BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK6
17MP:00053857.6BRAF, MDM2, NRAS, CDK6, CDK4, CDKN2C
18MP:00053977.5BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK6
19MP:00053847.5BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4
20MP:00053877.5BRAF, MDM2, NRAS, OCA2, CDKN2A, CDK6
21MP:00020067.2ASIP, BRAF, MGMT, MDM2, NRAS, CDKN2A
22MP:00053786.6CDKN2A, OCA2, NRAS, MDM2, BRAF, CDK6
23MP:00107686.1OCA2, NRAS, MDM2, MGMT, BRAF, CDKN2A

Publications for Familial Melanoma

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Sources:
50PubMed
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Articles related to Familial Melanoma:

(show top 50)    (show all 265)
idTitleAuthorsYear
1
Lack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi. (23825798)
2013
2
Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations. (23990928)
2013
3
Genetic variants in DNA repair genes and the risk of cutaneous malignant melanoma in melanoma-prone families with/without CDKN2A mutations. (21671477)
2012
4
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. (22841127)
2012
5
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. (22636603)
2012
6
Genome-wide linkage analysis of Swedish families to identify putative susceptibility loci for cutaneous malignant melanoma. (21901783)
2011
7
Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma. (21618342)
2011
8
AXIN2 germline mutations are rare in familial melanoma. (21294210)
2011
9
Novel and recurrent p14 mutations in Italian familial melanoma. (20132244)
2010
10
Analysis of the matrix metalloproteinase family reveals that MMP8 is often mutated in melanoma. (19330028)
2009
11
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. (18612309)
2008
12
Germline CDKN2A/p16 mutations are rare in multiple primary and familial malignant melanoma in German patients. (17890059)
2008
13
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. (18981015)
2008
14
From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients. (17276542)
2007
15
Anticipated uptake of genetic testing for familial melanoma in an Australian sample: An exploratory study. (16874747)
2007
16
Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. (17440112)
2007
17
Involvement of Src family kinases in N-cadherin phosphorylation and beta-catenin dissociation during transendothelial migration of melanoma cells. (16371504)
2006
18
High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families. (17167857)
2006
19
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. (15998953)
2005
20
Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours. (15928671)
2005
21
Genomic organization, incidence, and localization of the SPAN-x family of cancer-testis antigens in melanoma tumors and cell lines. (14734458)
2004
22
Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. (15150307)
2004
23
Ectopic expression of tyrosinase increases melanin synthesis and cell death following UVB irradiation in fibroblasts from familial atypical multiple mole and melanoma (FAMMM) patients. (15457095)
2004
24
NRAS hypermutability in familial melanoma with CDKN2A mutations--cause and effect? (12783922)
2003
25
Genetic Testing in Familial Melanoma : Epidemiologic/Genetic Assessment of Risks and Role of CDKN2A Analysis. (22323255)
2001
26
MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. (11500805)
2001
27
Regulation of tumor growth and metastasis of human melanoma by the CREB transcription factor family. (11108132)
2000
28
Familial melanoma aggregation in north-eastern Italy. (10998160)
2000
29
Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families. (11008905)
2000
30
Differential expression of the retinoblastoma gene family members in choroidal melanoma: prognostic significance. (10389932)
1999
31
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. (9425228)
1998
32
Expression of Bcl-2 family members in human melanocytes, in melanoma metastases and in melanoma cell lines. (9664140)
1998
33
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. (9699728)
1998
34
Hypermutability of UV-treated plasmids in dysplastic nevus/familial melanoma cell lines. (9377580)
1997
35
Suppression of autocrine cell proliferation and tumorigenesis of human melanoma cells and fibroblast growth factor transformed fibroblasts by a kinase-deficient FGF receptor 1: evidence for the involvement of Src-family kinases. (9223663)
1997
36
Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanoma. (9185712)
1997
37
Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. (8668202)
1996
38
Melanotransferrin gene expression in melanoma cells is correlated with high levels of Jun/Fos family transcripts and with the presence of a specific AP1-dependent ternary complex. (8836133)
1996
39
Cutaneous malignant melanoma in women is uncommonly associated with a family history of melanoma in first-degree relatives: a case-control study. (9013481)
1996
40
In situ expression of B7 and CD28 receptor families in human malignant melanoma: relevance for T-cell-mediated anti-tumor immunity. (7543078)
1995
41
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. (7670475)
1995
42
Incomplete expression of the tyrosinase gene family (tyrosinase, TRP-1, and TRP-2) in human malignant melanoma cells in vitro. (8789739)
1995
43
A new family of genes coding for an antigen recognized by autologous cytolytic T lymphocytes on a human melanoma. (7544395)
1995
44
Molecular control of melanogenesis in malignant melanoma: functional assessment of tyrosinase and lamp gene families by UV exposure and gene co-transfection, and cloning of a cDNA encoding calnexin, a possible melanogenesis "chaperone". (7531726)
1994
45
A member of the melanoma antigen-encoding gene (MAGE) family is expressed in human skin during wound healing. (8050815)
1994
46
Familial melanoma. (8440053)
1993
47
Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. (1439824)
1992
48
Ocular melanoma in families with dysplastic nevus syndrome. (2254470)
1990
49
Spontaneous and 4-nitroquinoline 1-oxide-induced G2 chromosome aberrations in lymphoblasts from familial melanoma patients. (2502307)
1989
50
Acquired precursors of cutaneous malignant melanoma. The familial dysplastic nevus syndrome. (3964923)
1985

Genetic Variations for Familial Melanoma

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Expression for genes affiliated with Familial Melanoma

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Melanoma

Search GEO for disease gene expression data for Familial Melanoma.

Pathways for genes affiliated with Familial Melanoma

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Sources:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 49PharmGKB, 4Cell Signaling Technology
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Pathways related to Familial Melanoma according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2RPA2
210.0MDM2, CDKN2A
310.0MDM2, CDKN2A
4
Transcription P53 signaling pathway
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9.7CDK4, CDKN2A, MDM2
59.6BRAF, MDM2, CDKN2A
6
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9.6PALB2, MGMT, RPA2
7
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9.5CDK4, NRAS, BRAF
8
Hide members
9.4NRAS, MDM2, BRAF
99.4CDKN2C, CDK4, CDKN2A, NRAS
10
Hide members
9.3RPA2, MGMT, MDM2, CDK4
11
Hide members
9.3ASIP, MC1R, AXIN2, NRAS
12
Cell cycle Cell cycle (generic schema)
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9.2CDK4, CDK6, CDKN2A
139.2NRAS, IFNA1, BRAF
14
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9.1BRAF, MDM2, NRAS, AXIN2
15
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9.0CDKN2A, CDK6, CDK4, CDKN2C
16
Hide members
8.9MDM2, CDKN2A, CDK6, CDKN2C
178.7MDM2, NRAS, CDKN2A, CDK6
18
Hide members
8.6RPA2, MDM2, CDKN2A, CDK6, CDK4
198.5CDK4, CDK6, CDKN2A, NRAS, MDM2
20
Hide members
8.5IFNA1, NRAS, CDK6, CDK4
21
Hide members
8.4RPA2, MDM2, CDKN2A, CDK6, CDK4, CDKN2C
22
Hide members
8.4BRAF, MDM2, NRAS, CDK6, CDKN2C
238.2IFNA1, MDM2, NRAS, CDK6, CDK4
24
Hide members
8.2BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4
25
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8.0RPA2, MGMT, MDM2, CDKN2A, CDK6, CDK4
26
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7.9BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4
277.8CDK4, CDK6, CDKN2A, NRAS, MDM2, MGMT
287.8BRAF, MDM2, NRAS, CDKN2A, CDK6, CDK4

Compounds for genes affiliated with Familial Melanoma

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Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Familial Melanoma according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1fascaplysin4410.4CDK4, CDKN2A
2phaeomelanin4410.4MC1R, ASIP
3eumelanin4410.3ASIP, MC1R
4arsenite44 2411.3MDM2, CDKN2A
57,12-dimethylbenz(a)anthracene4410.0MDM2, CDKN2A, MGMT
6p000014410.0MDM2, CDKN2A, BRAF
7vincristine44 49 1112.0IFNA1, MGMT
8o6-methylguanine4410.0BRAF, CDKN2A, MGMT
9acnu4410.0MGMT, CDKN2A
10crcs4410.0BRAF, MGMT, CDKN2A
11paclitaxel44 49 1111.8MDM2, BRAF, CDKN2A, CDK4
12p202449.8IFNA1, MDM2
13temozolomide44 1110.8IFNA1, MGMT, CDKN2A
14bcnu449.8MGMT, IFNA1, CDKN2A
15serine449.8CDKN2C, MC1R, AXIN2, RPA2
16fisetin449.8CDK4, CDK6
17fludarabine44 1110.7CDK4, IFNA1, MDM2
18purvalanol b599.7CDK4, CDK6
19ro 3306599.7CDK6, CDK4
20kenpaullone44 5910.7CDK4, CDK6
21su 9516599.6CDK6, CDK4
22carboplatin44 49 1111.6MDM2, CDK4, MGMT
23lomustine44 1110.5MGMT, IFNA1
2417-(allylamino)-17-demethoxygeldanamycin449.5CDK4, CDK6, BRAF
25melphalan44 1110.5MGMT, MDM2, IFNA1
26paraffin449.4CDK4, CDKN2A, MGMT, BRAF, MDM2
27agar449.4BRAF, MDM2, CDK4, CDKN2A, NRAS
285-aza-2deoxycytidine449.4MDM2, IFNA1, MGMT, CDKN2A
29trastuzumab44 49 1111.4CDK6, CDK4, MDM2
30cyclic amp44 2410.4ASIP, CDKN2A, MDM2, BRAF, CDK4, MC1R
31roscovitine449.4CDKN2A, CDK6, CDK4, MDM2
32flavopiridol44 1110.4MDM2, CDKN2A, CDK6, CDK4
33thymidylate449.3MDM2, IFNA1, CDKN2A, CDK4, MGMT
345fluorouracil449.3MGMT, CDKN2A, CDK4, IFNA1, MDM2
35doxorubicin44 49 1111.3CDKN2A, MDM2, IFNA1, MGMT, CDK4
36dexamethasone44 49 28 1112.2MGMT, MDM2, IFNA1, CDKN2A, CDK4
37irinotecan44 49 1111.2BRAF, IFNA1, MGMT, CDKN2A, MDM2
38etoposide44 49 59 1112.1RPA2, IFNA1, MDM2, MGMT
39camptothecin44 59 1111.0RPA2, IFNA1, MGMT, MDM2, CDKN2A, CDK4
40valine449.0CDK6, CDK4, CDKN2A, MDM2, BRAF
41vegf448.9BRAF, IFNA1, MDM2, CDKN2A, CDK4, MGMT
42gefitinib44 49 1110.8CDK4, CDK6, MDM2
43oligonucleotide448.8MDM2, NRAS, CDKN2A, MGMT, BRAF, RPA2
44rapamycin448.7BRAF, IFNA1, MDM2, CDK6, CDK4
45thymidine44 249.6MDM2, CDK6, CDK4, IFNA1, MGMT
46alanine448.3CDK4, CDK6, CDKN2A, MDM2, IFNA1, BRAF
47cisplatin44 49 59 1111.2MDM2, BRAF, CDKN2A, CDK6, CDK4, MGMT
48threonine448.1BRAF, RPA2, MDM2, CDKN2A, CDK6, CDK4
49retinoic acid44 249.0CDKN2A, BRAF, CDK4, IFNA1, MGMT, CDK6
50tyrosine447.4BRAF, RPA2, IFNA1, MDM2, NRAS, CDK6

GO Terms for genes affiliated with Familial Melanoma

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Sources:
16Gene Ontology
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Cellular components related to Familial Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein kinase holoenzyme complexGO:0003079.1CDK4, CDK6
2nucleoplasmGO:0056548.8PALB2, CDK4, CDKN2A, MDM2, MGMT, RPA2

Biological processes related to Familial Melanoma according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1G1/S transition of mitotic cell cycleGO:00008210.3RPA2
2protein destabilizationGO:03164810.0CDKN2A, MDM2
3melanin biosynthetic processGO:0424389.7ASIP, MC1R, OCA2
4positive regulation of gene expressionGO:0106288.9BRAF, MDM2, CDK6
5cell cycle arrestGO:0070508.9CDKN2A, CDK6, CDKN2C
6negative regulation of cell proliferationGO:0082858.8CDKN2A, CDK6, CDKN2C, AXIN2
7mitotic cell cycleGO:0002788.8RPA2, CDKN2A, CDK6, CDK4, CDKN2C

Molecular functions related to Familial Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein serine/threonine kinase inhibitor activityGO:0048619.7CDKN2C, CDKN2A
2cyclin bindingGO:0303329.4CDK4, CDK6
3protein bindingGO:0055156.1PTPRD, RPA2, BRAF, MDM2, OCA2, CDKN2A

Products for genes affiliated with Familial Melanoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Melanoma

About this section
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