GMN
MCID: LRG012
MIFTS: 49

Large Congenital Melanocytic Nevus (GMN)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Large Congenital Melanocytic Nevus

MalaCards integrated aliases for Large Congenital Melanocytic Nevus:

Name: Large Congenital Melanocytic Nevus 12 52 29 6 15
Giant Congenital Melanocytic Nevus 12 52 25
Giant Pigmented Hairy Nevus 12 52 25
Gphn 52 25
Gmn 12 25
Congenital Giant Pigmented Nevus of Skin 25
Melanocytic Nevus Syndrome, Congenital 43
Congenital Melanocytic Nevus Syndrome 25
Giant Congenital Melanocytic Nevi 25
Giant Congenital Pigmented Nevus 25
Congenital Giant Pigmented Nevus 52
Congenital Pigmented Nevus 12
Giant Congenital Nevus 52
Congenital Hairy Nevus 52
Giant Pigmented Nevus 52
Bathing Trunk Nevus 52
Giant Hairy Nevus 52
Lcmn 12

Classifications:



Summaries for Large Congenital Melanocytic Nevus

Genetics Home Reference : 25 Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body. People with giant congenital melanocytic nevus may have more than one nevus (plural: nevi). The other nevi are often smaller than the giant nevus. Affected individuals may have one or two additional nevi or multiple small nevi that are scattered over the skin; these are known as satellite or disseminated nevi. Affected individuals may feel anxiety or emotional stress due to the impact the nevus may have on their appearance and their health. Children with giant congenital melanocytic nevus can develop emotional or behavior problems. Some people with giant congenital melanocytic nevus develop a condition called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and spinal cord. These melanocytes may be spread out or grouped together in clusters. Their growth can cause increased pressure in the brain, leading to headache, vomiting, irritability, seizures, and movement problems. Tumors in the brain may also develop. Individuals with giant congenital melanocytic nevus have an increased risk of developing an aggressive form of skin cancer called melanoma, which arises from melanocytes. Estimates vary, but it is generally thought that people with giant congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing melanoma. Melanoma commonly begins in the nevus, but it can develop when melanocytes that invade other tissues, such as those in the brain and spinal cord, become cancerous. When melanoma occurs in people with giant congenital melanocytic nevus, the survival rate is low. Other types of tumors can also develop in individuals with giant congenital melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors (lipomas), and tumors of the nerve cells (schwannomas).

MalaCards based summary : Large Congenital Melanocytic Nevus, also known as giant congenital melanocytic nevus, is related to melanocytic nevus syndrome, congenital and nevus, epidermal. An important gene associated with Large Congenital Melanocytic Nevus is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Development Endothelin-1/EDNRA signaling. The drug Glycine has been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are congenital giant melanocytic nevus and generalized hirsutism

Disease Ontology : 12 A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has material basis in somatic mutation in NRAS on chromosome 11p15.5.

NIH Rare Diseases : 52 A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial or ethnic background and on any area of the body. They result from localized genetic changes in the fetus that lead to excessive growth of melanocytes, the cells in the skin that are responsible for skin color. People with giant congenital nevi may have no other symptoms or may have several symptoms such as fragile, dry, or itchy skin. In about 5% to 10% of the cases the giant congenital nevus is associated with neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord) and is characterized by neurological symptoms. They also have an increased risk of developing malignant melanoma , a type of skin cancer , especially if the nevus is localized in the vertebral column or when there are multiple associated lesions (satellites). Whenever possible, treatment includes surgery to remove the nevus. In other cases other treatment such as dermabrasion, shaving or facial excision, chemical peels and laser can be done. In most cases, when there are no neurological problems, the prognosis is good, but it is necessary for the lesions to be examined regularly.

Related Diseases for Large Congenital Melanocytic Nevus

Diseases in the Large Congenital Melanocytic Nevus family:

Melanocytic Nevus Syndrome, Congenital

Diseases related to Large Congenital Melanocytic Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 33.0 NRAS MC1R HRAS
2 nevus, epidermal 32.9 NRAS HRAS GNAQ
3 spitz nevus 30.8 LRRC56 HRAS
4 skin melanoma 30.1 NRAS MLANA MC1R HRAS GNAQ GNA11
5 mongolian spot 30.1 MLANA GNAQ GNA11
6 molybdenum cofactor deficiency, complementation group c 12.2
7 molybdenum cofactor deficiency 11.8
8 hyperekplexia 11.8
9 hyperekplexia 1 11.6
10 autism 11.6
11 molybdenum cofactor deficiency, complementation group a 11.6
12 autism spectrum disorder 11.6
13 sulfite oxidase deficiency, isolated 11.5
14 stiff-person syndrome 11.3
15 schizophrenia 11.2
16 kaufman oculocerebrofacial syndrome 11.1
17 epilepsy, myoclonic juvenile 11.1
18 ritscher-schinzel syndrome 2 11.1
19 epilepsy, idiopathic generalized 11.1
20 epileptic encephalopathy, early infantile, 6 11.1
21 kagami-ogata syndrome 11.1
22 early infantile epileptic encephalopathy 11.1
23 pervasive developmental disorder 11.1
24 childhood absence epilepsy 11.1
25 herpes zoster oticus 11.1
26 acute monoblastic leukemia 11.1
27 breast squamous cell carcinoma 10.5 LRRC56 HRAS
28 acneiform dermatitis 10.4 NRAS HRAS
29 large intestine adenocarcinoma 10.4 NRAS LRRC56 HRAS
30 serous cystadenocarcinoma 10.4 NRAS LRRC56 HRAS
31 rasopathy 10.4 NRAS LRRC56 HRAS
32 malignant anus melanoma 10.4 NRAS MLANA HRAS
33 melanoma, cutaneous malignant 10 10.4
34 melanoma 10.4
35 conjunctival pigmentation 10.4 SOX10 MLANA
36 sensory organ benign neoplasm 10.4 NRAS MLANA
37 lentigo maligna melanoma 10.4 MLANA MC1R
38 acral lentiginous melanoma 10.4 NRAS MLANA HRAS
39 neural tube defects 10.4
40 phakomatosis cesioflammea 10.3 GNAQ GNA11
41 core binding factor acute myeloid leukemia 10.3 NRAS HRAS
42 gallbladder melanoma 10.3 SOX10 MLANA
43 conjunctival nevus 10.3 NRAS MLANA GNAQ
44 ovarian serous cystadenocarcinoma 10.3 NRAS LRRC56 HRAS CFHR2
45 lipomatosis, multiple 10.3
46 spina bifida occulta 10.3
47 pleomorphic lipoma 10.3
48 meningocele 10.3
49 organic acidemia 10.3 GCDH CFHR2 BLOC1S1
50 epithelioid malignant peripheral nerve sheath tumor 10.3 SOX10 MLANA

Graphical network of the top 20 diseases related to Large Congenital Melanocytic Nevus:



Diseases related to Large Congenital Melanocytic Nevus

Symptoms & Phenotypes for Large Congenital Melanocytic Nevus

Human phenotypes related to Large Congenital Melanocytic Nevus:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 congenital giant melanocytic nevus 31 hallmark (90%) HP:0005600
2 generalized hirsutism 31 frequent (33%) HP:0002230
3 hydrocephalus 31 occasional (7.5%) HP:0000238
4 pruritus 31 occasional (7.5%) HP:0000989
5 subcutaneous nodule 31 occasional (7.5%) HP:0001482
6 hypopigmented skin patches 31 occasional (7.5%) HP:0001053
7 rhabdomyosarcoma 31 occasional (7.5%) HP:0002859
8 cutaneous melanoma 31 occasional (7.5%) HP:0012056
9 seizure 31 occasional (7.5%) HP:0001250

GenomeRNAi Phenotypes related to Large Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.47 HRAS
2 Decreased viability GR00055-A-2 9.47 HRAS
3 Decreased viability GR00221-A-1 9.47 HRAS NRAS
4 Decreased viability GR00221-A-2 9.47 HRAS
5 Decreased viability GR00221-A-3 9.47 HRAS NRAS
6 Decreased viability GR00240-S-1 9.47 NT5C2 SOX10
7 Decreased viability GR00249-S 9.47 GNAQ NT5C2
8 Decreased viability GR00386-A-1 9.47 BLOC1S1 NT5DC3
9 Decreased viability GR00402-S-2 9.47 MC1R

MGI Mouse Phenotypes related to Large Congenital Melanocytic Nevus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.17 BLOC1S1 GNA11 GNAQ MC1R MLANA NRAS

Drugs & Therapeutics for Large Congenital Melanocytic Nevus

Drugs for Large Congenital Melanocytic Nevus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dermoscopic Diagnosis, Histopathological Correlation, and Cellular Immortalization of Melanocytic Nevi and Primary Cutaneous Melanoma Completed NCT00288938
2 Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing Terminated NCT01476514

Search NIH Clinical Center for Large Congenital Melanocytic Nevus

Cochrane evidence based reviews: melanocytic nevus syndrome, congenital

Genetic Tests for Large Congenital Melanocytic Nevus

Genetic tests related to Large Congenital Melanocytic Nevus:

# Genetic test Affiliating Genes
1 Large Congenital Melanocytic Nevus 29 HRAS NRAS

Anatomical Context for Large Congenital Melanocytic Nevus

MalaCards organs/tissues related to Large Congenital Melanocytic Nevus:

40
Skin, Brain, Spinal Cord, Lung, Breast

Publications for Large Congenital Melanocytic Nevus

Articles related to Large Congenital Melanocytic Nevus:

(show all 30)
# Title Authors PMID Year
1
A prospective study of patients with large congenital melanocytic nevi and the risk of melanoma. 61
28538879 2017
2
Sclerotic Regressing Large Congenital Nevus. 61
27778391 2016
3
Pigment Loss in Patients with Large Congenital Melanocytic Nevi: Various Clinical Presentations Documented in a Large Series. 61
26935480 2016
4
Large Congenital Melanocytic Nevus on the Breast Sparing the Nipple and Areola. 61
25940669 2015
5
Congenital melanocytic nevi: catch them early! 61
23723605 2013
6
Desmoplastic hypopigmented hairless nevus: a variant with progressive depigmentation, induration, and overgrowth. 61
21575045 2012
7
Treatment of a large congenital melanocytic nevus with dermabrasion and autologous cell suspension (ReCELL®): a case report. 61
21664206 2011
8
The development of two different malignancies in a patient with large congenital melanocytic nevus. 61
21950562 2011
9
Large congenital melanocytic nevus with metastatic melanoma with a probable primary in the lung. 61
21220880 2011
10
The risk of melanoma and neurocutaneous melanosis associated with congenital melanocytic nevi. 61
21051009 2010
11
Large congenital melanotic nevi in an extremity with neurocutaneous melanocytosis. 61
19250413 2009
12
Pigmented plexiform neurofibroma: Distinction from a large congenital melanocytic nevus. 61
17280739 2007
13
Sudden change of a large congenital melanocytic nevus to neurocutaneous melanosis. 61
17119434 2006
14
Proliferative nodules with balloon-cell change in a large congenital melanocytic nevus. 61
16466515 2006
15
Malignant melanoma in a large congenital melanocytic nevus 9 years after dermabrasion in childhood. 61
16484832 2006
16
Highly sensitive detection of melanoma at an early stage based on the increased serum secreted protein acidic and rich in cysteine and glypican-3 levels. 61
16299239 2005
17
Metastatic malignant melanoma presenting as pancytopenia in a three-year-old boy. 61
15800910 2005
18
Usefulness of the novel oncofetal antigen glypican-3 for diagnosis of hepatocellular carcinoma and melanoma. 61
15807627 2005
19
Spinal arachnoid cyst containing nevus cells in a patient with a large congenital melanocytic nevus: case report. 61
15934183 2004
20
Identification of glypican-3 as a novel tumor marker for melanoma. 61
15475451 2004
21
Large congenital melanocytic nevi and the risk for development of malignant melanoma and neurocutaneous melanocytosis. 61
11015516 2000
22
[Congenital giant pigmented hairy nevus--case report]. 61
11089376 2000
23
Epidermal nevi and localized cranial defects. 61
10096594 1999
24
Neurocutaneous melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis. 61
8859278 1996
25
Excision of the large congenital melanocytic nevus facilitated by the use of the tissue expander. 61
3379964 1988
26
Large congenital melanocytic nevus. Light and electron microscopic findings. 61
3658372 1987
27
"Giant pigmented hairy nevus in von-Recklinghausen's disease". 61
3108231 1986
28
Inheritance of giant pigmented hairy nevus of the scalp. 61
7258230 1981
29
Giant pigmented hairy nevus in two siblings. 61
4426633 1974
30
Giant pigmented hairy nevus. 61
5975780 1966

Variations for Large Congenital Melanocytic Nevus

ClinVar genetic disease variations for Large Congenital Melanocytic Nevus:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
2 HRAS NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)SNV Pathogenic 12606 rs104894228 11:534286-534286 11:534286-534286
3 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
4 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)SNV Pathogenic 13900 rs11554290 1:115256529-115256529 1:114713908-114713908
5 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)SNV Pathogenic/Likely pathogenic 13899 rs121434595 1:115258745-115258745 1:114716124-114716124
6 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)SNV Conflicting interpretations of pathogenicity 73058 rs121913254 1:115256530-115256530 1:114713909-114713909
7 46;X;inv(X)(q26q28)dninversion Uncertain significance 267819
8 HRAS NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)SNV Benign 40448 rs397517144 11:532686-532686 11:532686-532686

Cosmic variations for Large Congenital Melanocytic Nevus:

9 (show top 50) (show all 178)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM94313279 TRRAP skin,trunk,malignant melanoma,NS c.3251C>T p.S1084L 7:98930064-98930064 12
2 COSM94308860 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 12
3 COSM87899887 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 12
4 COSM90383615 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 12
5 COSM97441849 TBX22 skin,trunk,malignant melanoma,NS c.1352G>T p.G451V 23:80030900-80030900 12
6 COSM123786828 SMG7 skin,trunk,malignant melanoma,NS c.2823C>T p.F941= 1:183549276-183549276 12
7 COSM93451454 RAC1 skin,trunk,malignant melanoma,NS c.85C>T p.P29S 7:6387261-6387261 12
8 COSM130466610 PTPRK skin,trunk,malignant melanoma,NS c.2785G>A p.A929T 6:127996931-127996931 12
9 COSM101820401 PTPRD skin,trunk,malignant melanoma,NS c.2595G>A p.M865I 9:8486222-8486222 12
10 COSM96844714 PTEN skin,trunk,malignant melanoma,NS c.112C>T p.P38S 10:87894057-87894057 12
11 COSM88576208 PREX2 skin,trunk,malignant melanoma,NS c.1387C>T p.R463C 8:68069080-68069080 12
12 COSM96445193 PIK3CG skin,trunk,malignant melanoma,NS c.1419C>T p.F473= 7:106868980-106868980 12
13 COSM97107813 NRAS skin,trunk,malignant melanoma,NS c.34G>A p.G12S 1:114716127-114716127 12
14 COSM97107326 NRAS skin,trunk,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 12
15 COSM97107359 NRAS skin,trunk,malignant melanoma,NS c.182A>G p.Q61R 1:114713908-114713908 12
16 COSM97107705 NRAS skin,trunk,malignant melanoma,NS c.37G>A p.G13S 1:114716124-114716124 12
17 COSM97108079 NRAS skin,trunk,malignant melanoma,NS c.183A>T p.Q61H 1:114713907-114713907 12
18 COSM93673532 NF1 skin,trunk,malignant melanoma,NS c.2131C>T p.R711C 17:31226564-31226564 12
19 COSM93682021 NF1 skin,trunk,malignant melanoma,NS c.7189+1G>A p.? 17:31343136-31343136 12
20 COSM94444782 MTOR skin,trunk,malignant melanoma,NS c.2638A>G p.T880A 1:11231311-11231311 12
21 COSM85776217 MSH6 skin,trunk,malignant melanoma,NS c.4004A>G p.E1335G 2:47806781-47806781 12
22 COSM85396550 MAP2K2 skin,trunk,malignant melanoma,NS c.461C>T p.S154F 19:4102443-4102443 12
23 COSM88445871 MAP2K1 skin,trunk,malignant melanoma,NS c.607G>A p.E203K 15:66481793-66481793 12
24 COSM87959936 KRAS skin,trunk,malignant melanoma,NS c.130G>A p.V44I 12:25227394-25227394 12
25 COSM88331257 KIT skin,trunk,malignant melanoma,NS c.575G>A p.G192D 4:54698521-54698521 12
26 COSM84993942 IL36A skin,trunk,malignant melanoma,NS c.359C>T p.S120F 2:113007926-113007926 12
27 COSM99120474 GRIN2A skin,trunk,malignant melanoma,NS c.2252G>A p.G751E 16:9798381-9798381 12
28 COSM87495322 GNAQ skin,trunk,malignant melanoma,NS c.264G>T p.Q88H 9:77922218-77922218 12
29 COSM93505355 EPHB4 skin,trunk,malignant melanoma,NS c.2177C>T p.S726L 7:100807522-100807522 12
30 COSM90896800 EPHA3 skin,trunk,malignant melanoma,NS c.2525G>A p.R842Q 3:89450205-89450205 12
31 COSM119256412 CDKN2A skin,trunk,malignant melanoma,NS c.334C>G p.R112G 9:21971025-21971025 12
32 COSM119234401 CDKN2A skin,trunk,malignant melanoma,NS c.341C>A p.P114H 9:21971018-21971018 12
33 COSM119229854 CDKN2A skin,trunk,malignant melanoma,NS c.205G>T p.E69* 9:21971154-21971154 12
34 COSM150563774 BRAF skin,trunk,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 12
35 COSM150585368 BRAF skin,trunk,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 12
36 COSM150621169 BRAF skin,trunk,malignant melanoma,NS c.1390G>A p.G464R 7:140781618-140781618 12
37 COSM92907716 skin,trunk,malignant melanoma,NS c.2595G>A p.M865I 9:8486222-8486222 12
38 COSM118787231 skin,trunk,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 12
39 COSM149385292 skin,trunk,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 12
40 COSM129332354 skin,trunk,malignant melanoma,NS c.384C>A p.A128= 9:21971018-21971018 12
41 COSM89629503 skin,trunk,malignant melanoma,NS c.2252G>A p.G751E 16:9798381-9798381 12
42 COSM143945161 skin,trunk,malignant melanoma,NS c.379G>A p.E127K 17:7673764-7673764 12
43 COSM88803061 skin,trunk,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 12
44 COSM117903594 skin,trunk,malignant melanoma,NS c.1823-898G>A p.? 9:8486222-8486222 12
45 COSM144652672 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 12
46 COSM144014790 skin,trunk,malignant melanoma,NS c.823G>A p.E275K 17:7673764-7673764 12
47 COSM97047727 skin,trunk,malignant melanoma,NS c.2737G>A p.A913T 6:127996931-127996931 12
48 COSM86291646 skin,trunk,malignant melanoma,NS c.334C>G p.R112G 9:21971025-21971025 12
49 COSM102101829 skin,trunk,malignant melanoma,NS c.1814-898G>A p.? 9:8486222-8486222 12
50 COSM142561493 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 12

Expression for Large Congenital Melanocytic Nevus

Search GEO for disease gene expression data for Large Congenital Melanocytic Nevus.

Pathways for Large Congenital Melanocytic Nevus

Pathways related to Large Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 NRAS MC1R HRAS GNAQ GNA11
2
Show member pathways
12.44 NRAS HRAS GNAQ GNA11
3
Show member pathways
12.19 NRAS HRAS GNAQ GNA11
4
Show member pathways
11.83 HRAS GNAQ GNA11
5 11.81 NRAS HRAS GNAQ
6 11.77 NRAS HRAS GNAQ
7 11.74 NRAS HRAS GNAQ
8
Show member pathways
11.73 NRAS HRAS GNAQ GNA11
9
Show member pathways
11.71 NRAS HRAS GNAQ
10 11.52 NRAS HRAS GNAQ GNA11
11 11.5 NRAS HRAS GNAQ GNA11
12 11.36 HRAS GNAQ GNA11
13 11.06 NRAS HRAS GNAQ GNA11
14 10.7 NRAS HRAS GNAQ GNA11
15
Show member pathways
10.68 GNAQ GNA11
16 10.63 NRAS HRAS GNAQ
17 10.52 NRAS HRAS

GO Terms for Large Congenital Melanocytic Nevus

Biological processes related to Large Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.32 GNAQ GNA11
2 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.26 GNAQ GNA11
3 magnesium ion transport GO:0015693 9.16 SLC41A1 MRS2
4 phototransduction, visible light GO:0007603 8.96 GNAQ GNA11
5 entrainment of circadian clock GO:0009649 8.62 GNAQ GNA11

Molecular functions related to Large Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.62 NRAS HRAS GNAQ GNA11
2 guanyl nucleotide binding GO:0019001 9.26 GNAQ GNA11
3 magnesium ion transmembrane transporter activity GO:0015095 9.16 SLC41A1 MRS2
4 5'-nucleotidase activity GO:0008253 8.96 NT5DC3 NT5C2
5 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11

Sources for Large Congenital Melanocytic Nevus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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