MCID: FML024
MIFTS: 51

Familial Melanoma malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Familial Melanoma

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Wikipedia:64 Dysplastic nevus syndrome (also known as \"Familial atypical multiple mole?melanoma (FAMMM) syndrome\",... more...

MalaCards based summary: Familial Melanoma, also known as cutaneous melanoma, is related to pancreatic cancer and astrocytoma. An important gene associated with Familial Melanoma is ASIP (agouti signaling protein), and among its related pathways are Inhibition of Ribosome Biogenesis by p14(ARF) and TP53 network. The compounds fascaplysin and phaeomelanin have been mentioned in the context of this disorder. Affiliated tissues include testes and skin, and related mouse phenotypes are pigmentation and renal/urinary system.

Aliases & Classifications for Familial Melanoma

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Familial Melanoma, Aliases & Descriptions:

Name: Familial Melanoma 9
Cutaneous Melanoma 61
 
Melanoma, Familial 42


Classifications:

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


External Ids:

Disease Ontology9 DOID:6846
NCIt39 C8498

Related Diseases for Familial Melanoma

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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 72)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatic cancer30.3BRAF, NRAS, CDKN2A, CDK6, CDK4
2astrocytoma29.9MGMT, MDM2, CDKN2A, CDK4
3uveal melanoma29.6MC1R, BRAF, NRAS, MDM2, CDKN2A, CDK4
4melanoma29.3CDK4, MGMT, OCA2, MC1R, BRAF, ASIP
5anaplastic ependymoma10.5MDM2
6spitz nevus10.4BRAF
7gliosarcoma10.4CDK4
8giant cell glioblastoma10.4MDM2
9oculocutaneous albinism type 210.4OCA2
10lung cancer10.4NRAS, CDKN2A
11dedifferentiated liposarcoma10.4CDK4, MDM2
12myxoid liposarcoma10.4MDM2, CDK4
13pilocytic astrocytoma10.3MGMT, CDK4
14colorectal cancer, somatic10.3AXIN2, NRAS
15congenital nystagmus10.3OCA2
16li-fraumeni syndrome10.3MDM2, CDKN2A
17alveolar rhabdomyosarcoma10.3MDM2, CDK4
18pancreatitis10.3
19thyroid hurthle cell carcinoma10.3CDK6, BRAF
20acute lymphoblastic leukemia, childhood10.3CDK4, CDKN2A, MDM2
21esophageal cancer10.3MDM2, CDKN2A, CDK4
22precursor t-cell acute lymphoblastic leukemia10.3CDK4, CDK6, CDKN2A
23lipoma10.3CDK4, MDM2
24nasopharynx carcinoma10.2CDK4, CDKN2A, MDM2
25brain cancer10.2MGMT, MDM2
26lynch syndrome10.2BRAF, NRAS
27malignant peripheral nerve sheath tumor10.2CDKN2A, MDM2
28noonan syndrome10.2BRAF, NRAS
29albinism10.2MC1R, OCA2
30dysplastic nevus syndrome10.2
31acute lymphoblastic leukemia10.2CDK4, CDK6, CDKN2C, CDKN2A
32oculocutaneous albinism10.2OCA2, MC1R
33cervical cancer10.2CDK4, CDKN2A, MDM2
34medulloblastoma10.1AXIN2, CDK4, MGMT
35malignant fibroxanthoma10.1MDM2, CDK4
36osteosarcoma10.1CDK4, CDKN2C, CDKN2A, MDM2
37endometrial carcinoma10.1CDK4, CDK6, CDKN2A, BRAF
38cutaneous malignant melanoma10.1
39melanoma, malignant, somatic10.1
40squamous cell carcinoma of the head and neck10.1MGMT, CDKN2A, CDK6, CDK4
41grade iii astrocytoma10.1CDK4, CDKN2A, MDM2, MGMT
42oral cancer10.1MGMT, MDM2, CDKN2A, CDK4
43lung benign neoplasm10.0MGMT, MDM2, CDKN2A, CDK4
44malignant glioma10.0CDK4, CDKN2A, MDM2, MGMT
45non-hodgkin lymphoma10.0CDK6, CDKN2C, MDM2
46retinoblastoma10.0MDM2, CDKN2A, CDKN2C, CDK6, CDK4
47colonic benign neoplasm10.0MGMT, BRAF, CDK4, AXIN2
48familial adenomatous polyposis10.0MGMT, BRAF, NRAS, AXIN2
49anaplastic oligodendroglioma10.0MGMT, MDM2, CDKN2A, CDKN2C, CDK4
50oligodendroglioma10.0MGMT, MDM2, CDKN2A, CDKN2C, CDK4

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



Diseases related to familial melanoma

Symptoms for Familial Melanoma

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Drugs & Therapeutics for Familial Melanoma

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Drug clinical trials:

Search ClinicalTrials for Familial Melanoma

Search NIH Clinical Center for Familial Melanoma

Genetic Tests for Familial Melanoma

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Anatomical Context for Familial Melanoma

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MalaCards organs/tissues related to Familial Melanoma:

32
Testes, Skin

Animal Models for Familial Melanoma or affiliated genes

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MGI Mouse Phenotypes related to Familial Melanoma:

36 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9OCA2, MC1R, BRAF, ASIP, MDM2, CDKN2A
2MP:00053678.7OCA2, BRAF, ASIP, MDM2, CDKN2C, CDK4
3MP:00053828.6OCA2, MC1R, BRAF, ASIP, MDM2, AXIN2
4MP:00053918.6OCA2, BRAF, ASIP, NRAS, CDKN2A, CDK4
5MP:00053718.6OCA2, MC1R, PALB2, ASIP, NRAS, MDM2
6MP:00053818.5OCA2, BRAF, NRAS, MDM2, CDKN2A, CDK4
7MP:00028738.5BRAF, ASIP, NRAS, MDM2, AXIN2, OCA2
8MP:00030128.4MGMT, OCA2, MC1R, NRAS, MDM2, CDKN2A
9MP:00053908.2PTPRD, OCA2, BRAF, ASIP, MDM2, CDKN2A
10MP:00036318.0PTPRD, BRAF, PALB2, ASIP, MDM2, CDKN2A
11MP:00053697.9PTPRD, BRAF, MDM2, CDKN2A, CDK6, CDK4
12MP:00053867.8PTPRD, OCA2, MC1R, BRAF, ASIP, MDM2
13MP:00053707.8OCA2, BRAF, ASIP, NRAS, MDM2, CDKN2A
14MP:00053897.8OCA2, BRAF, MDM2, CDKN2A, CDKN2C, CDK6
15MP:00053807.8BRAF, PALB2, ASIP, NRAS, MDM2, CDKN2A
16MP:00053767.7MGMT, OCA2, BRAF, ASIP, NRAS, CDKN2A
17MP:00053857.7BRAF, PALB2, ASIP, NRAS, MDM2, CDKN2C
18MP:00053797.6MGMT, OCA2, BRAF, ASIP, CDKN2A, CDKN2C
19MP:00053977.5OCA2, BRAF, ASIP, NRAS, MDM2, CDKN2A
20MP:00053877.5OCA2, BRAF, ASIP, NRAS, MDM2, CDKN2A
21MP:00107717.3BRAF, MC1R, OCA2, PTPRD, PALB2, ASIP
22MP:00053847.2MC1R, BRAF, PALB2, ASIP, NRAS, MDM2
23MP:00020067.1CDK4, MGMT, MC1R, BRAF, PALB2, ASIP
24MP:00053786.5PALB2, BRAF, MC1R, OCA2, PTPRD, ASIP
25MP:00107686.2PALB2, BRAF, OCA2, PTPRD, MGMT, ASIP

Publications for Familial Melanoma

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Articles related to Familial Melanoma:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
Familial melanoma by histology and age: joint data from five Nordic countries. (24461199)
2014
2
Analysis of Latvian familial melanoma patients shows novel variants in the noncoding regions of CDKN2A and that the CDK4 mutation R24H is a founder mutation. (23546221)
2013
3
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. (23190892)
2013
4
Lack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi. (23825798)
2013
5
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. (23103111)
2013
6
p16 immunohistochemistry of multiple primary melanomas as screening to identify Familial Melanoma Syndrome. (21671908)
2012
7
Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma. (21153565)
2011
8
Comment on "Clinical genetic testing for familial melanoma in Italy: a cooperative study". (21093666)
2010
9
Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations. (19759551)
2010
10
Selection criteria for genetic assessment of patients with familial melanoma. (19751883)
2009
11
Absence of germline epimutation of the CDKN2A gene in familial melanoma. (18818678)
2009
12
Genetic testing in familial melanoma: uptake and implications. (18613292)
2008
13
Clinico-pathological characteristics of familial melanoma in a Mediterranean population. (18781137)
2008
14
From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients. (17276542)
2007
15
Management of familial melanoma. (17196510)
2007
16
Re: MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. (16418518)
2006
17
Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanoma. (16462187)
2006
18
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. (15998953)
2005
19
Genetic susceptibility in familial melanoma from northeastern Italy. (15235029)
2004
20
NRAS hypermutability in familial melanoma with CDKN2A mutations--cause and effect? (12783922)
2003
21
eMelanoBase: an online locus-specific variant database for familial melanoma. (12497626)
2003
22
Alterations in CDKN2A locus as potential indicator of melanoma predisposition in relatives of non-familial melanoma cases. (12950144)
2003
23
Analysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population. (12362978)
2002
24
Novel O6-methylguanine-DNA methyltransferase SNPs: a frequency comparison of patients with familial melanoma and healthy individuals in Sweden. (12402349)
2002
25
Genetic Testing in Familial Melanoma : Epidemiologic/Genetic Assessment of Risks and Role of CDKN2A Analysis. (22323255)
2001
26
Lack of germline CDK6 mutations in familial melanoma. (10777219)
2000
27
Familial melanoma aggregation in north-eastern Italy. (10998160)
2000
28
A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. (10417291)
1999
29
Normal repair of ultraviolet radiation-induced DNA damage in familial melanoma without CDKN2A or CDK4 gene mutation. (10380935)
1999
30
RPA2, a gene for the 32 kDa subunit of replication protein A on chromosome 1p35-36, is not mutated in patients with familial melanoma linked to chromosome 1p36. (9508376)
1998
31
CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. (9699728)
1998
32
Hypermutability of UV-treated plasmids in dysplastic nevus/familial melanoma cell lines. (9377580)
1997
33
Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. (8668202)
1996
34
Involvement of the p16INK4 (CDKN2) gene in familial melanoma. (8791272)
1996
35
Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group. (8552158)
1996
36
Familial melanoma and pancreatic cancer. (8552159)
1996
37
Frequency of familial melanoma and MLM2 gene. (7776789)
1995
38
Mutations associated with familial melanoma impair p16INK4 function. (7647780)
1995
39
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. (7670475)
1995
40
Familial melanoma in the progeny of a Duroc and Slovak white crossbred sow. (8592049)
1995
41
Dysplastic nevi as a melanoma risk factor in patients with familial melanoma. (7982177)
1994
42
Linkage analysis in familial melanoma kindreds to markers on chromosome 6p. (7989117)
1994
43
Familial melanoma and p16--a hung jury. (7987389)
1994
44
Confirmation of chromosome 9p linkage in familial melanoma. (8213823)
1993
45
Familial melanoma. (8440053)
1993
46
Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees. (1531137)
1992
47
Spontaneous and 4-nitroquinoline 1-oxide-induced G2 chromosome aberrations in lymphoblasts from familial melanoma patients. (2502307)
1989
48
Evidence against Ha-ras-1 involvement in sporadic and familial melanoma. (2879249)
1987
49
Harvey-ras oncogene restriction fragment alleles in familial melanoma kindreds. (2879551)
1986
50
Precursor lesions in familial melanoma. (635599)
1978

Variations for Familial Melanoma

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Expression for genes affiliated with Familial Melanoma

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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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Pathways related to Familial Melanoma according to GeneCards/GeneDecks:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MDM2, CDKN2A
2
Show member pathways
9.9MDM2, CDKN2A
39.8NRAS, BRAF
49.7CDK4, CDKN2A, MDM2
5
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.6AXIN2, CDKN2A, MDM2
6
Show member pathways
9.6RPA2, MDM2, CDK4
79.5CDK4, MDM2, BRAF
89.5BRAF, MDM2, CDKN2A
9
Show member pathways
9.5MGMT, PALB2, RPA2
109.5NRAS, CDKN2A, CDKN2C, CDK4
11
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
9.4MDM2, NRAS, BRAF
12
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.4BRAF, NRAS, MDM2
139.4CDK4, CDK6
149.4CDK4, CDK6
15
Show member pathways
9.4AXIN2, NRAS, ASIP, MC1R
16
Show member pathways
Immune response CD16 signaling in NK cells59
9.3BRAF, IFNA1, NRAS
179.3BRAF, IFNA1, NRAS
18
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation59
9.2CDK4, CDK6, CDKN2A
19
Show member pathways
Signal transduction PTEN pathway59
9.2BRAF, NRAS, MDM2, AXIN2
209.2CDK6, CDK4, AXIN2
21
Show member pathways
9.1CDK4, CDK6, NRAS
229.1BRAF, CDK6, CDK4
23
Show member pathways
9.0CDKN2A, CDKN2C, CDK6, CDK4
248.8RPA2, MDM2, CDK6, CDK4
258.8NRAS, MDM2, CDKN2A, CDK6
26
Show member pathways
8.7BRAF, NRAS, MDM2, CDKN2A, CDKN2C, CDK4
278.6MDM2, CDKN2A, CDKN2C, CDK6, CDK4
28
Show member pathways
Cell cycle37
8.6MDM2, CDKN2A, CDKN2C, CDK6, CDK4
29
Show member pathways
8.6CDK4, CDK6, CDKN2C, CDKN2A, MDM2
30
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
8.6IFNA1, NRAS, CDK6, CDK4
31
Show member pathways
DNA damage response37
8.6RPA2, MDM2, CDKN2A, CDK6, CDK4
328.5CDK4, CDK6, CDKN2A, MDM2, NRAS
33
Show member pathways
8.3RPA2, MDM2, CDKN2A, CDKN2C, CDK6, CDK4
34
Show member pathways
8.3RPA2, MDM2, CDKN2A, CDKN2C, CDK6, CDK4
358.2IFNA1, NRAS, MDM2, CDK6, CDK4
36
Show member pathways
8.2BRAF, NRAS, MDM2, CDKN2A, CDK6, CDK4
37
Show member pathways
7.9MGMT, RPA2, MDM2, CDKN2A, CDKN2C, CDK6
38
Show member pathways
7.9BRAF, NRAS, MDM2, CDKN2A, CDKN2C, CDK6
39
Show member pathways
Signaling Pathways in Glioblastoma37
7.9BRAF, NRAS, MDM2, CDKN2A, CDKN2C, CDK6
407.9BRAF, NRAS, MDM2, CDKN2A, CDK6, CDK4
417.8CDK4, MGMT, BRAF, NRAS, MDM2, CDKN2A

Compounds for genes affiliated with Familial Melanoma

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Compounds related to Familial Melanoma according to GeneCards/GeneDecks:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1fascaplysin4410.3CDKN2A, CDK4
2phaeomelanin4410.3MC1R, ASIP
3eumelanin4410.1MC1R, ASIP
47,12-dimethylbenz(a)anthracene449.9MDM2, CDKN2A, MGMT
5p00001449.9BRAF, CDKN2A, MDM2
6o6-methylguanine449.8CDKN2A, BRAF, MGMT
7crcs449.8BRAF, MGMT, CDKN2A
8temozolomide44 1210.7CDKN2A, IFNA1, MGMT
9bcnu449.7CDKN2A, MGMT, IFNA1
10fisetin449.7CDK6, CDK4
11fludarabine44 50 1211.7CDK4, MDM2, IFNA1
12kenpaullone44 6010.5CDK4, CDK6
13su 9516609.5CDK6, CDK4
14ro 3306609.4CDK4, CDK6
15agar449.4MDM2, NRAS, CDK4, BRAF, CDKN2A
1617-(allylamino)-17-demethoxygeldanamycin449.4CDK4, BRAF, CDK6
17melphalan44 50 1211.4IFNA1, MDM2, MGMT
18vincristine44 50 1211.4MGMT, IFNA1, CDKN2A, MDM2
19purvalanol b609.3CDK6, CDK4
20trastuzumab44 50 1211.3CDK4, MDM2, CDK6
21p202449.3IFNA1, MDM2
22paclitaxel44 50 1211.3MGMT, BRAF, MDM2, CDKN2A, CDK4
235-aza-2deoxycytidine449.3CDKN2A, MDM2, IFNA1, MGMT
24roscovitine449.3CDK4, MDM2, CDKN2A, CDK6
25flavopiridol44 1210.3CDK4, CDK6, CDKN2A, MDM2
26paraffin449.3CDK4, CDKN2A, MDM2, BRAF, MGMT
27cyclic amp44 2510.2ASIP, CDK4, CDKN2A, MDM2, MC1R, BRAF
28thymidylate449.2IFNA1, MGMT, CDK4, MDM2, CDKN2A
295fluorouracil449.2CDK4, MDM2, CDKN2A, IFNA1, MGMT
30egcg449.2CDK4, MGMT, CDKN2A, CDK6
31doxorubicin44 50 1211.1CDKN2A, MDM2, IFNA1, MGMT, CDK4
32progesterone44 29 60 25 1213.1BRAF, MGMT, CDKN2A, CDK4, MDM2
33etoposide44 50 60 1212.1RPA2, MGMT, IFNA1, MDM2
34gefitinib44 50 1211.1CDK6, CDK4, MDM2
35irinotecan44 50 1211.0IFNA1, MGMT, BRAF, CDKN2A, MDM2
36camptothecin44 60 1210.9MGMT, CDK4, CDKN2A, MDM2, RPA2, IFNA1
37valine448.9CDK6, CDKN2A, CDK4, MDM2, BRAF
38arsenite44 259.9CDK6, CDKN2A, MDM2, IFNA1
39vegf448.7MGMT, IFNA1, MDM2, BRAF, CDKN2A, CDK4
40oligonucleotide448.7NRAS, MGMT, BRAF, MDM2, CDKN2A, RPA2
41rapamycin448.6BRAF, IFNA1, MDM2, CDK4, CDK6
42thymidine44 259.5MGMT, CDK4, IFNA1, CDK6, MDM2
43estrogen448.4CDK6, CDKN2A, MDM2, MGMT, BRAF, CDK4
44dexamethasone44 50 29 1211.3MGMT, MDM2, IFNA1, CDK4, CDK6, CDKN2A
45retinoic acid44 259.2CDK4, MGMT, CDK6, CDKN2A, BRAF, IFNA1
46threonine448.2RPA2, MDM2, AXIN2, CDKN2A, CDK6, BRAF
47alanine448.1CDK4, CDK6, CDKN2A, MDM2, IFNA1, MC1R
48cisplatin44 50 60 1211.0CDK4, CDK6, MDM2, CDKN2A, IFNA1, MGMT
49tyrosine447.5NRAS, PTPRD, BRAF, CDK4, IFNA1, RPA2
50serine447.3AXIN2, CDK4, CDK6, CDKN2A, MDM2, RPA2

GO Terms for genes affiliated with Familial Melanoma

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Cellular components related to Familial Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:0166049.9CDKN2A, MDM2
2cyclin-dependent protein kinase holoenzyme complexGO:0003079.3CDK4, CDK6
3nucleoplasmGO:0056548.8CDKN2A, MDM2, PALB2, CDK4, RPA2, MGMT
4nucleolusGO:0057308.0PALB2, RPA2, MDM2, CDKN2A, CDK6, CDK4
5nucleusGO:0056347.0CDKN2C, AXIN2, CDK4, MGMT, BRAF, PALB2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell cycle arrestGO:07115710.0CDK4, MDM2
2protein destabilizationGO:0316489.8CDKN2A, MDM2
3negative regulation of phosphorylationGO:0423269.7CDKN2C, CDKN2A
4melanin biosynthetic processGO:0424389.7ASIP, MC1R, OCA2
5fibroblast growth factor receptor signaling pathwayGO:0085439.4NRAS, MDM2, BRAF
6cell cycle arrestGO:0070509.2CDKN2A, CDK6, CDKN2C
7negative regulation of cell proliferationGO:0082859.0CDKN2A, CDKN2C, CDK6, AXIN2
8G1/S transition of mitotic cell cycleGO:0000828.9CDK4, CDK6, CDKN2C, CDKN2A, RPA2
9mitotic cell cycleGO:0002788.8RPA2, CDKN2A, CDKN2C, CDK6, CDK4

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

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein serine/threonine kinase inhibitor activityGO:00486110.0CDKN2C, CDKN2A
2cyclin-dependent protein serine/threonine kinase activityGO:0046939.4CDK4, CDK6
3cyclin bindingGO:0303329.3CDK6, CDK4
4ubiquitin protein ligase bindingGO:0316259.3AXIN2, MDM2, MC1R
5protein bindingGO:0055156.2AXIN2, PTPRD, OCA2, MC1R, BRAF, PALB2

Products for genes affiliated with Familial Melanoma

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Sources for Familial Melanoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet