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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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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50PubMed
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Articles related to Familial Melanoma:

(show top 50)    (show all 265)
idTitleAuthorsYear
1
TERT promoter mutations in familial and sporadic melanoma. (23348503)
2013
2
Zeaxanthin Induces Apoptosis in Human Uveal Melanoma Cells through Bcl-2 Family Proteins and Intrinsic Apoptosis Pathway. (24223611)
2013
3
Pigmentary traits, family history of melanoma and the risk of endometriosis: a cohort study of US women. (24343850)
2013
4
A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. (22889334)
2012
5
Information from your family doctor. Cutaneous malignant melanoma. (22335217)
2012
6
MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study. (22095472)
2012
7
Functional activation of Src family kinase yes protein is essential for the enhanced malignant properties of human melanoma cells expressing ganglioside GD3. (21454696)
2011
8
Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer. (21614589)
2011
9
MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. (20189796)
2010
10
Genetics: familial melanoma. (20090079)
2010
11
CDKN2A mutations in melanoma families from Uruguay. (19523171)
2009
12
Lack of inherited mutations of PTPRD in familial melanoma and melanoma-astrocytoma syndrome. (19500277)
2009
13
No evidence for linkage with melanoma in Italian melanoma-prone families. (18628440)
2008
14
A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. (17909018)
2007
15
Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanoma. (16462187)
2006
16
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. (16893909)
2006
17
A population-based study on the familial aggregation of cutaneous malignant melanoma in Iceland. (16530404)
2006
18
Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations. (16172233)
2005
19
A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation. (15880589)
2005
20
Pancreatic carcinoma surveillance in patients with familial melanoma. (12925390)
2003
21
Epigenetic inactivation of RAS association domain family protein 1 (RASSF1A) in malignant cutaneous melanoma. (12670917)
2003
22
Familial melanoma: a complex disorder leading to controversy on DNA testing. (14574160)
2003
23
Patterns of metastases in familial and non-familial melanoma. (12569293)
2003
24
Analysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population. (12362978)
2002
25
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. (11807902)
2002
26
mda-7 (IL-24) Mediates selective apoptosis in human melanoma cells by inducing the coordinated overexpression of the GADD family of genes by means of p38 MAPK. (12114539)
2002
27
Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families. (12459644)
2002
28
MAGE-E1, a new member of the melanoma-associated antigen gene family and its expression in human glioma. (11406556)
2001
29
The specific activation of gadd45 following UVB radiation requires the POU family gene product N-oct3 in human melanoma cells. (11704867)
2001
30
Mutation analysis of the CDKN2A promoter in Australian melanoma families. (11477665)
2001
31
Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families. (10951521)
2000
32
Cytoplasmic localization of the interferon-inducible protein that is encoded by the AIM2 (absent in melanoma) gene from the 200-gene family. (10828447)
2000
33
Analysis of the CDKN2A and CDK4 genes and HLA-DR and HLA-DQ alleles in two Spanish familial melanoma kindreds. (11243640)
2000
34
Familial melanoma; CDKN2A and beyond. (10537008)
1999
35
CDKN2A variants in a population-based sample of Queensland families with melanoma. (10070944)
1999
36
Expression spectrum of melanoma antigen-encoding gene family members in colorectal carcinoma. (9625425)
1998
37
Differential expression of p16INK4a and p16beta transcripts in B-lymphoblastoid cells from members of hereditary melanoma families without CDKN2A exon mutations. (9247305)
1997
38
Cloning a novel member of the human interferon-inducible gene family associated with control of tumorigenicity in a model of human melanoma. (9242382)
1997
39
Linkage analysis of familial melanoma and chromosome 6 in 14 Australian kindreds. (9258659)
1997
40
Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. (9168184)
1997
41
Novel germline p16 mutation in familial malignant melanoma in southern Sweden. (8653684)
1996
42
Genetic epidemiology of familial melanoma. (7554508)
1995
43
Frequency of familial melanoma and MLM2 gene. (7776790)
1995
44
Molecular cytogenetic mapping of the human melanoma antigen (MAGE) gene family to chromosome region Xq27-qter: implications for MAGE immunotherapy. (8137270)
1994
45
The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains. (8084618)
1994
46
Family studies in melanoma: identification of the atypical mole syndrome (AMS) phenotype. (7950355)
1994
47
Dysplastic nevus syndrome. Familial and sporadic precursors of cutaneous melanoma. (3830486)
1985
48
The familial occurrence of cutaneous melanoma, intraocular melanoma, and the dysplastic nevus syndrome. (6660276)
1983
49
Familial melanoma associated with dominant ultraviolet radiation sensitivity. (7083179)
1982
50
Precursor lesions in familial melanoma. A new genetic preneoplastic syndrome. (621895)
1978

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
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8.6RPA2, MDM2, CDKN2A, CDK6, CDK4
198.5CDK4, CDK6, CDKN2A, NRAS, MDM2
20
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8.5IFNA1, NRAS, CDK6, CDK4
21
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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

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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