MCID: MLN066
MIFTS: 59

Melanoma, Cutaneous Malignant 1

Categories: Rare diseases, Eye diseases, Skin diseases, Cancer diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Melanoma, Cutaneous Malignant 1

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 1:

Name: Melanoma, Cutaneous Malignant 1 57
Familial Melanoma 12 59 15
Melanoma, Cutaneous Malignant, 1 57 13
Cutaneous Malignant Melanoma 1 29 6
Melanoma, Familial 57 53
Familial Atypical Mole-Malignant Melanoma Syndrome; Fammm 57
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 1 40
Melanoma, Cutaneous Malignant, Susceptibility to, 1 57
Familial Atypical Mole-Malignant Melanoma Syndrome 57
Dysplastic Nevus Syndrome, Hereditary; Dns 57
Familial Atypical Mole Melanoma Syndrome 73
Dysplastic Nevus Syndrome, Hereditary 57
Melanoma, Cutaneous Malignant; Cmm 57
Melanoma, Cutaneous Malignant 57
Dysplastic Nevus Syndrome 73
Melanoma, Familial; Mlm 57
Melanoma, Malignant 57
Hereditary Melanoma 73
Cutaneous Melanoma 73
B-K Mole Syndrome 57
Fammm 57
Cmm1 57
Cmm 57
Mlm 57
Dns 57

Characteristics:

Orphanet epidemiological data:

59
familial melanoma
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
melanoma, cutaneous malignant 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Melanoma, Cutaneous Malignant 1

OMIM : 57 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). (155600)

MalaCards based summary : Melanoma, Cutaneous Malignant 1, also known as familial melanoma, is related to skin melanoma and melanoma. An important gene associated with Melanoma, Cutaneous Malignant 1 is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cellular Senescence (REACTOME). Affiliated tissues include skin, eye and testes, and related phenotypes are retinopathy and dry skin

Related Diseases for Melanoma, Cutaneous Malignant 1

Diseases in the Melanoma, Cutaneous Malignant 1 family:

Melanoma, Cutaneous Malignant 2 Melanoma, Cutaneous Malignant 4
Melanoma, Cutaneous Malignant 3 Melanoma, Cutaneous Malignant 7
Melanoma, Cutaneous Malignant 5 Melanoma, Cutaneous Malignant 6
Melanoma, Cutaneous Malignant 8 Melanoma, Cutaneous Malignant 9
Melanoma, Cutaneous Malignant 10

Diseases related to Melanoma, Cutaneous Malignant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 skin melanoma 31.8 BAP1 CDK4 CDKN2A CDKN2B MC1R MITF
2 melanoma 31.0 CDK4 CDKN2A MC1R MITF PTEN
3 melanoma, cutaneous malignant 6 12.4
4 melanoma, cutaneous malignant 9 12.4
5 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.0
6 melanoma, malignant familial intraocular 11.9
7 mirror movements 1 11.8
8 malignant conjunctival melanoma 11.3
9 infiltrating angiolipoma 11.0 CDK4 CDKN2A
10 lentigo maligna melanoma 11.0 MC1R MITF
11 malignant peritoneal mesothelioma 11.0 BAP1 CDKN2A
12 melanoma, cutaneous malignant 4 10.9
13 bowenoid papulosis 10.9 CDKN2A TERT
14 acral lentiginous melanoma 10.9 CDKN2A PTEN TERT
15 ewing's family of tumors 10.9 CDK4 CDKN2A CDKN2B
16 down syndrome 10.9
17 microvascular complications of diabetes 3 10.9
18 tenosynovial giant cell tumor 10.9 CDKN2A CDKN2B
19 sensory system cancer 10.9 BAP1 CDK4 CDKN2A
20 melanocytic nevus syndrome, congenital 10.9
21 melanoma, cutaneous malignant 2 10.9
22 melanoma, cutaneous malignant 7 10.9
23 melanoma, cutaneous malignant 8 10.9
24 anaplastic oligodendroglioma 10.9 CDKN2A MGMT POT1
25 ocular cancer 10.9 BAP1 CDK4 CDKN2A
26 nervous system cancer 10.9 CDK4 CDKN2A CDKN2B
27 skin sarcoma 10.9 CDK4 CDKN2B MITF
28 precursor t-cell acute lymphoblastic leukemia 10.8 CDKN2A CDKN2B PTEN
29 ocular melanoma 10.8 BAP1 MC1R
30 gliosarcoma 10.8 CDK4 MGMT PTEN
31 respiratory system cancer 10.8 CDKN2A PTEN STK11 TERT
32 thyroid lymphoma 10.8 CDKN2A CDKN2B
33 pilocytic astrocytoma 10.8 CDK4 CDKN2A MGMT PTEN
34 scrotal carcinoma 10.8 CDKN2A CDKN2B
35 adenocarcinoma 10.8 CDK4 CDKN2A PTEN STK11
36 glioblastoma multiforme 10.7 CDK4 CDKN2A MGMT PTEN
37 atypical neurofibroma 10.7 CDKN2A CDKN2B
38 integumentary system cancer 10.7 CDKN2A IER3IP1 MC1R MITF
39 papilloma 10.7 CDKN2A CDKN2B PTEN
40 lung cancer susceptibility 3 10.7 CDK4 CDKN2A STK11 TERT
41 glioma 10.6 CDK4 CDKN2A POT1 PTEN
42 grade iii astrocytoma 10.6 CDK4 CDKN2A CDKN2B MGMT PTEN
43 anal squamous cell carcinoma 10.6 CDKN2A MGMT
44 oligodendroglioma 10.6 CDKN2A CDKN2B MGMT POT1 PTEN
45 melanoma, uveal 10.6 BAP1 CDK4 CDKN2A MC1R MITF
46 cholangiocarcinoma 10.6 BAP1 CDKN2A PTEN TERT
47 adamantinoma of long bones 10.6 CDK4 CDKN2A MGMT PTEN TERT
48 cervical cancer 10.6 CDKN2A PTEN STK11 TERT
49 glioblastoma 10.6 CDK4 CDKN2A CDKN2B MGMT PTEN
50 esophageal cancer 10.5 CDK4 CDKN2A CDKN2B PTEN TERT

Graphical network of the top 20 diseases related to Melanoma, Cutaneous Malignant 1:



Diseases related to Melanoma, Cutaneous Malignant 1

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 1

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
numerous nevi
atypical nevi (>5mm with irregular edge and pigmentation)
atypical nevi often present in non-sun exposed areas

Neoplasia:
malignant melanoma

Head And Neck Eyes:
intraocular melanoma


Clinical features from OMIM:

155600

Human phenotypes related to Melanoma, Cutaneous Malignant 1:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
2 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
3 freckling 59 32 frequent (33%) Frequent (79-30%) HP:0001480
4 abnormality of the hair 59 32 frequent (33%) Frequent (79-30%) HP:0001595
5 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
6 melanoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002861
7 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
8 nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003764
9 neoplasm of the stomach 59 32 occasional (7.5%) Occasional (29-5%) HP:0006753
10 neoplasm of the breast 59 32 occasional (7.5%) Occasional (29-5%) HP:0100013
11 abnormality of the lymphatic system 59 32 frequent (33%) Frequent (79-30%) HP:0100763
12 abnormality of the eye 32 HP:0000478
13 numerous nevi 32 HP:0001054
14 atypical nevus 32 HP:0001062
15 atypical nevi in non-sun exposed areas 32 HP:0001074
16 intraocular melanoma 32 HP:0007716
17 cutaneous melanoma 32 HP:0012056

MGI Mouse Phenotypes related to Melanoma, Cutaneous Malignant 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 TERT MITF POT1 PTEN STK11 TERF2IP
2 endocrine/exocrine gland MP:0005379 10.24 ACD BAP1 CDK4 CDKN2A CDKN2B CDKN2D
3 homeostasis/metabolism MP:0005376 10.23 CDKN2D MGMT MITF PTEN STK11 TERF2IP
4 growth/size/body region MP:0005378 10.22 ACD PTEN STK11 TERF2IP TERT BAP1
5 mortality/aging MP:0010768 10.18 ACD BAP1 CDK4 CDKN2A CDKN2B CDKN2D
6 immune system MP:0005387 10.13 BAP1 CDK4 CDKN2A CDKN2B MC1R MITF
7 integument MP:0010771 10.1 ACD BAP1 CDK4 CDKN2A CDKN2B MC1R
8 neoplasm MP:0002006 10.06 ACD BAP1 CDK4 CDKN2A CDKN2B CDKN2D
9 digestive/alimentary MP:0005381 10.05 ACD BAP1 CDK4 CDKN2A PTEN STK11
10 no phenotypic analysis MP:0003012 9.91 STK11 TERF2IP BAP1 CDKN2A CDKN2B MC1R
11 pigmentation MP:0001186 9.7 ACD CDK4 CDKN2A MC1R MITF PTEN
12 reproductive system MP:0005389 9.7 ACD BAP1 CDK4 CDKN2A CDKN2B CDKN2D
13 respiratory system MP:0005388 9.17 BAP1 CDKN2A CDKN2D MGMT PTEN STK11

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Familial Melanoma Completed NCT00339404
2 Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma Recruiting NCT00450593
3 Family Study of Melanoma in Italy Recruiting NCT00339222
4 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma Recruiting NCT00040352

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 1

Genetic Tests for Melanoma, Cutaneous Malignant 1

Genetic tests related to Melanoma, Cutaneous Malignant 1:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 1 29 PTEN

Anatomical Context for Melanoma, Cutaneous Malignant 1

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 1:

41
Skin, Eye, Testes, Pancreas

Publications for Melanoma, Cutaneous Malignant 1

Articles related to Melanoma, Cutaneous Malignant 1:

(show top 50) (show all 118)
# Title Authors Year
1
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
2
Point mutation in p14<sup>ARF</sup>-specific exon 1I^ of CDKN2A causing familial melanoma and astrocytoma. ( 29278422 )
2017
3
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. ( 28699883 )
2017
4
A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges. ( 28754699 )
2017
5
Germline TERT promoter mutations are rare in familial melanoma. ( 26433962 )
2016
6
Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases. ( 27287845 )
2016
7
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. ( 25505254 )
2015
8
Frequency and Characteristics of Familial Melanoma in Spain: The FAM-GEM-1 Study. ( 25874698 )
2015
9
Genetics of familial melanoma: 20 years after CDKN2A. ( 25431349 )
2015
10
Deletion of the MGMT gene in familial melanoma. ( 24801985 )
2014
11
POT1 loss-of-function variants predispose to familial melanoma. ( 24686849 )
2014
12
Familial melanoma by histology and age: joint data from five Nordic countries. ( 24461199 )
2014
13
Acquired melanocytic nevi in childhood and familial melanoma. ( 24196164 )
2014
14
Somatic BRAF and NRAS mutations in familial melanomas with known germline CDKN2A status: a GenoMEL study. ( 23771122 )
2014
15
Constitutional promoter methylation and risk of familial melanoma. ( 24762620 )
2014
16
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
17
Altered transcriptome signature of phenotypically normal skin fibroblasts heterozygous for CDKN2A in familial melanoma: relevance to early intervention. ( 23371019 )
2013
18
Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. ( 23190892 )
2013
19
Lack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi. ( 23825798 )
2013
20
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. ( 23103111 )
2013
21
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. ( 22841127 )
2012
22
p16 immunohistochemistry of multiple primary melanomas as screening to identify Familial Melanoma Syndrome. ( 21671908 )
2012
23
Living with familial melanoma syndrome: coping with the anxiety of three melanomas. ( 22515589 )
2012
24
Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma. ( 21153565 )
2011
25
AXIN2 germline mutations are rare in familial melanoma. ( 21294210 )
2011
26
Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain. ( 20539244 )
2010
27
Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations. ( 19759551 )
2010
28
Novel and recurrent p14 mutations in Italian familial melanoma. ( 20132244 )
2010
29
Genetics: familial melanoma. ( 20090079 )
2010
30
Comment on &amp;quot;Clinical genetic testing for familial melanoma in Italy: a cooperative study&amp;quot;. ( 21093666 )
2010
31
Familial melanoma: a meta-analysis and estimates of attributable fraction. ( 20056624 )
2010
32
Selection criteria for genetic assessment of patients with familial melanoma. ( 19751883 )
2009
33
Management of familial melanoma and nonmelanoma skin cancer syndromes. ( 19056043 )
2009
34
Clinical genetic testing for familial melanoma in Italy: a cooperative study. ( 19500876 )
2009
35
Lack of inherited mutations of PTPRD in familial melanoma and melanoma-astrocytoma syndrome. ( 19500277 )
2009
36
Absence of germline epimutation of the CDKN2A gene in familial melanoma. ( 18818678 )
2009
37
Familial melanoma. ( 18672145 )
2008
38
Genetic testing in familial melanoma: uptake and implications. ( 18613292 )
2008
39
Clinico-pathological characteristics of familial melanoma in a Mediterranean population. ( 18781137 )
2008
40
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. ( 18612309 )
2008
41
Management of familial melanoma. ( 17196510 )
2007
42
A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. ( 17909018 )
2007
43
Anticipated uptake of genetic testing for familial melanoma in an Australian sample: An exploratory study. ( 16874747 )
2007
44
Phenotypic variation in familial melanoma: consequences for predictive DNA testing. ( 17438187 )
2007
45
From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients. ( 17276542 )
2007
46
Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanoma. ( 16462187 )
2006
47
Re: MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. ( 16418518 )
2006
48
Population-based analysis of prognostic factors and survival in familial melanoma. ( 16192601 )
2005
49
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. ( 15998953 )
2005
50
Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients. ( 14745721 )
2004

Variations for Melanoma, Cutaneous Malignant 1

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STK11 NM_000455.4(STK11): c.580G> T (p.Asp194Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh37 Chromosome 19, 1220487: 1220487
2 STK11 NM_000455.4(STK11): c.580G> T (p.Asp194Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh38 Chromosome 19, 1220488: 1220488
3 STK11 NM_000455.4(STK11): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913323 GRCh37 Chromosome 19, 1220415: 1220415
4 STK11 NM_000455.4(STK11): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913323 GRCh38 Chromosome 19, 1220416: 1220416
5 STK11 NM_000455.4(STK11): c.145T> G (p.Tyr49Asp) single nucleotide variant Pathogenic rs137853080 GRCh37 Chromosome 19, 1207057: 1207057
6 STK11 NM_000455.4(STK11): c.145T> G (p.Tyr49Asp) single nucleotide variant Pathogenic rs137853080 GRCh38 Chromosome 19, 1207058: 1207058
7 STK11 NM_000455.4(STK11): c.403G> C (p.Gly135Arg) single nucleotide variant Pathogenic rs137853081 GRCh37 Chromosome 19, 1219351: 1219351
8 STK11 NM_000455.4(STK11): c.403G> C (p.Gly135Arg) single nucleotide variant Pathogenic rs137853081 GRCh38 Chromosome 19, 1219352: 1219352
9 CDKN2A NM_000077.4(CDKN2A): c.106dupG (p.Ala36Glyfs) duplication Pathogenic rs398123152 GRCh37 Chromosome 9, 21974721: 21974721
10 CDKN2A NM_000077.4(CDKN2A): c.106dupG (p.Ala36Glyfs) duplication Pathogenic rs398123152 GRCh38 Chromosome 9, 21974722: 21974722

Cosmic variations for Melanoma, Cutaneous Malignant 1:

9
(show all 14)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 6
2 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 6
3 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 6
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 6
5 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
6 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 6
7 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 6
10 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 6
11 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 6
12 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
13 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 6
14 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 6

Copy number variations for Melanoma, Cutaneous Malignant 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15007 1 111800000 116100000 Amplification NRAS Cutaneous malignant melanoma
2 30467 1 243700000 249250621 Copy number AKT3 Cutaneous malignant melanoma
3 47154 10 89613174 89718512 Loss PTEN Cutaneous malignant melanoma
4 226597 7 59900000 159138663 Amplification BRAF Cutaneous malignant melanoma

Expression for Melanoma, Cutaneous Malignant 1

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 1.

Pathways for Melanoma, Cutaneous Malignant 1

Pathways related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 ACD CDK4 CDKN2A CDKN2B CDKN2D POT1
2
Show member pathways
12.86 ACD CDK4 CDKN2A CDKN2B CDKN2D POT1
3
Show member pathways
12.58 CDK4 CDKN2A CDKN2B MITF PTEN
4
Show member pathways
12.56 CDK4 CDKN2A CDKN2B PTEN TERT
5
Show member pathways
12.42 ACD POT1 TERF2IP TERT
6
Show member pathways
12.4 CDK4 CDKN2A CDKN2B CDKN2D
7
Show member pathways
12.33 ACD CDK4 POT1 TERF2IP
8 12.26 CDK4 CDKN2A CDKN2B TERT
9 12.22 CDK4 CDKN2A CDKN2B IFNA17 MITF PTEN
10 12.2 CDK4 CDKN2A CDKN2B CDKN2D
11 12.19 ACD CDK4 CDKN2A MGMT TERF2IP
12
Show member pathways
12.18 CDK4 CDKN2A CDKN2B CDKN2D
13 11.96 CDK4 CDKN2A CDKN2B PTEN
14
Show member pathways
11.84 CDKN2B CDKN2D PTEN STK11
15
Show member pathways
11.79 POT1 TERF2IP TERT
16 11.7 CDK4 CDKN2B PTEN
17 11.6 CDK4 CDKN2A MGMT PTEN
18 11.28 ACD POT1 TERF2IP TERT
19 11.27 CDK4 CDKN2B PTEN
20 10.43 CDK4 CDKN2A CDKN2B CDKN2D

GO Terms for Melanoma, Cutaneous Malignant 1

Cellular components related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.62 ACD POT1 TERF2IP TERT
2 chromosome, telomeric region GO:0000781 9.46 ACD POT1 TERF2IP TERT
3 cyclin D2-CDK4 complex GO:0097129 9.37 CDK4 CDKN2D
4 shelterin complex GO:0070187 9.13 ACD POT1 TERF2IP
5 nuclear telomere cap complex GO:0000783 8.92 ACD POT1 TERF2IP TERT
6 nucleoplasm GO:0005654 10.03 ACD BAP1 CDK4 CDKN2A CDKN2D MGMT

Biological processes related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.98 CDK4 CDKN2A CDKN2B CDKN2D STK11
2 negative regulation of cell proliferation GO:0008285 9.8 BAP1 CDKN2A CDKN2B CDKN2D PTEN STK11
3 cell cycle arrest GO:0007050 9.76 CDKN2A CDKN2B CDKN2D STK11
4 negative regulation of cell growth GO:0030308 9.74 CDKN2A CDKN2D STK11
5 G1/S transition of mitotic cell cycle GO:0000082 9.73 CDK4 CDKN2A CDKN2D
6 regulation of protein stability GO:0031647 9.69 CDKN2A PTEN TERT
7 telomere maintenance GO:0000723 9.65 ACD TERF2IP TERT
8 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.61 CDKN2B CDKN2D PTEN
9 negative regulation of telomere maintenance via telomerase GO:0032211 9.58 ACD POT1
10 response to inorganic substance GO:0010035 9.55 BAP1 PTEN
11 replicative senescence GO:0090399 9.54 CDKN2A TERT
12 telomere capping GO:0016233 9.54 ACD POT1 TERF2IP
13 protein localization to chromosome, telomeric region GO:0070198 9.52 ACD TERF2IP
14 protection from non-homologous end joining at telomere GO:0031848 9.49 ACD TERF2IP
15 telomere maintenance via telomerase GO:0007004 9.43 POT1 TERF2IP TERT
16 telomere assembly GO:0032202 9.4 ACD POT1
17 negative regulation of phosphorylation GO:0042326 9.33 CDKN2A CDKN2B CDKN2D
18 establishment of protein localization to telomere GO:0070200 9.13 ACD POT1 TERT
19 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.02 CDK4 CDKN2A CDKN2B CDKN2D PTEN

Molecular functions related to Melanoma, Cutaneous Malignant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-rich strand telomeric DNA binding GO:0098505 9.16 POT1 TERF2IP
2 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.13 CDKN2A CDKN2B CDKN2D
3 telomeric DNA binding GO:0042162 8.92 ACD POT1 TERF2IP TERT

Sources for Melanoma, Cutaneous Malignant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....