GMN
MCID: LRG012
MIFTS: 47

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 20 29 6 15
Giant Congenital Melanocytic Nevus 12 20 43
Giant Pigmented Hairy Nevus 12 20 43
Gphn 20 43
Gmn 12 43
Congenital Giant Pigmented Nevus of Skin 43
Melanocytic Nevus Syndrome, Congenital 44
Congenital Melanocytic Nevus Syndrome 43
Giant Congenital Melanocytic Nevi 43
Giant Congenital Pigmented Nevus 43
Congenital Giant Pigmented Nevus 20
Congenital Pigmented Nevus 12
Giant Congenital Nevus 20
Congenital Hairy Nevus 20
Giant Pigmented Nevus 20
Bathing Trunk Nevus 20
Giant Hairy Nevus 20
Lcmn 12

Classifications:



Summaries for Large Congenital Melanocytic Nevus

MedlinePlus Genetics : 43 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. 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.

GARD : 20 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 184)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 32.5 NRAS MC1R HRAS
2 nevus, epidermal 32.4 NRAS LRRC56 HRAS GNAQ
3 spitz nevus 30.7 LRRC56 HRAS
4 conjunctival nevus 30.3 SOX10 NRAS MLANA HRAS GNAQ
5 melanoma 30.2 SOX10 NRAS MLANA MC1R HRAS GNAQ
6 mongolian spot 30.2 MLANA GNAQ GNA11
7 skin melanoma 29.6 SOX10 NRAS MLANA MC1R HRAS GNAQ
8 molybdenum cofactor deficiency, complementation group c 11.4
9 molybdenum cofactor deficiency 11.3
10 hyperekplexia 11.2
11 stiff-person syndrome 11.1
12 sulfite oxidase deficiency, isolated 11.0
13 autism 11.0
14 molybdenum cofactor deficiency, complementation group a 11.0
15 autism spectrum disorder 11.0
16 alzheimer disease 11.0
17 disease of mental health 11.0
18 hyperekplexia 1 10.8
19 kaufman oculocerebrofacial syndrome 10.8
20 epilepsy, myoclonic juvenile 10.8
21 ritscher-schinzel syndrome 2 10.8
22 epilepsy, idiopathic generalized 10.8
23 glycine encephalopathy 10.8
24 dravet syndrome 10.8
25 kagami-ogata syndrome 10.8
26 alacrima, achalasia, and mental retardation syndrome 10.8
27 early infantile epileptic encephalopathy 10.8
28 pervasive developmental disorder 10.8
29 childhood absence epilepsy 10.8
30 herpes zoster oticus 10.8
31 acute monoblastic leukemia 10.8
32 neural tube defects 10.4
33 acneiform dermatitis 10.3 NRAS HRAS
34 ovarian melanoma 10.3 NRAS MLANA
35 lipomatosis, multiple 10.3
36 spina bifida occulta 10.3
37 pleomorphic lipoma 10.3
38 meningocele 10.3
39 conjunctival pigmentation 10.3 SOX10 MLANA
40 serous cystadenocarcinoma 10.3 NRAS LRRC56 HRAS
41 sensory organ benign neoplasm 10.3 NRAS MLANA
42 large intestine adenocarcinoma 10.3 NRAS LRRC56 HRAS
43 lentigo maligna melanoma 10.3 MLANA MC1R
44 gallbladder melanoma 10.3 SOX10 MLANA
45 core binding factor acute myeloid leukemia 10.3 NRAS HRAS
46 sarcomatoid squamous cell skin carcinoma 10.3 SOX10 MLANA
47 phakomatosis cesioflammea 10.3 GNAQ GNA11
48 melanomatosis 10.3 NRAS MLANA GNAQ
49 oculoectodermal syndrome 10.3 NRAS HRAS
50 acral lentiginous melanoma 10.3 NRAS MC1R HRAS

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 subcutaneous nodule 31 occasional (7.5%) HP:0001482
5 rhabdomyosarcoma 31 occasional (7.5%) HP:0002859
6 hypopigmented skin patches 31 occasional (7.5%) HP:0001053
7 pruritus 31 occasional (7.5%) HP:0000989
8 cutaneous melanoma 31 occasional (7.5%) HP:0012056
9 seizure 31 occasional (7.5%) HP:0001250

MGI Mouse Phenotypes related to Large Congenital Melanocytic Nevus:

46
# 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

Search Clinical Trials , 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, Thyroid, Breast

Publications for Large Congenital Melanocytic Nevus

Articles related to Large Congenital Melanocytic Nevus:

(show all 36)
# Title Authors PMID Year
1
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 6
24006476 2014
2
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 6
23392294 2013
3
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 6
22499344 2012
4
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 6
18633438 2009
5
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 6
12727991 2003
6
Amino-acid substitution at codon 13 of the N-ras oncogene in rectal cancer in a Japanese patient. 6
3102434 1987
7
A prospective study of patients with large congenital melanocytic nevi and the risk of melanoma. 61
28538879 2017
8
Sclerotic Regressing Large Congenital Nevus. 61
27778391 2016
9
Pigment Loss in Patients with Large Congenital Melanocytic Nevi: Various Clinical Presentations Documented in a Large Series. 61
26935480 2016
10
Large Congenital Melanocytic Nevus on the Breast Sparing the Nipple and Areola. 61
25940669 2015
11
Congenital melanocytic nevi: catch them early! 61
23723605 2013
12
Desmoplastic hypopigmented hairless nevus: a variant with progressive depigmentation, induration, and overgrowth. 61
21575045 2012
13
Treatment of a large congenital melanocytic nevus with dermabrasion and autologous cell suspension (ReCELL®): a case report. 61
21664206 2011
14
The development of two different malignancies in a patient with large congenital melanocytic nevus. 61
21950562 2011
15
Large congenital melanocytic nevus with metastatic melanoma with a probable primary in the lung. 61
21220880 2011
16
The risk of melanoma and neurocutaneous melanosis associated with congenital melanocytic nevi. 61
21051009 2010
17
Large congenital melanotic nevi in an extremity with neurocutaneous melanocytosis. 61
19250413 2009
18
Pigmented plexiform neurofibroma: Distinction from a large congenital melanocytic nevus. 61
17280739 2007
19
Sudden change of a large congenital melanocytic nevus to neurocutaneous melanosis. 61
17119434 2006
20
Proliferative nodules with balloon-cell change in a large congenital melanocytic nevus. 61
16466515 2006
21
Malignant melanoma in a large congenital melanocytic nevus 9 years after dermabrasion in childhood. 61
16484832 2006
22
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
23
Metastatic malignant melanoma presenting as pancytopenia in a three-year-old boy. 61
15800910 2005
24
Usefulness of the novel oncofetal antigen glypican-3 for diagnosis of hepatocellular carcinoma and melanoma. 61
15807627 2005
25
Identification of glypican-3 as a novel tumor marker for melanoma. 61
15475451 2004
26
Spinal arachnoid cyst containing nevus cells in a patient with a large congenital melanocytic nevus: case report. 61
15934183 2004
27
Large congenital melanocytic nevi and the risk for development of malignant melanoma and neurocutaneous melanocytosis. 61
11015516 2000
28
[Congenital giant pigmented hairy nevus--case report]. 61
11089376 2000
29
Epidermal nevi and localized cranial defects. 61
10096594 1999
30
Neurocutaneous melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis. 61
8859278 1996
31
Excision of the large congenital melanocytic nevus facilitated by the use of the tissue expander. 61
3379964 1988
32
Large congenital melanocytic nevus. Light and electron microscopic findings. 61
3658372 1987
33
"Giant pigmented hairy nevus in von-Recklinghausen's disease". 61
3108231 1986
34
Inheritance of giant pigmented hairy nevus of the scalp. 61
7258230 1981
35
Giant pigmented hairy nevus in two siblings. 61
4426633 1974
36
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 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 13900 rs11554290 1:115256529-115256529 1:114713908-114713908
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.35G>C (p.Gly12Ala) SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
4 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
5 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 13899 rs121434595 1:115258745-115258745 1:114716124-114716124
6 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) SNV Pathogenic 73058 rs121913254 1:115256530-115256530 1:114713909-114713909
7 HRAS NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) SNV Likely 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 COSM146274590 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 12
2 COSM113095017 TRRAP skin,trunk,malignant melanoma,NS c.3248C>T p.S1083L 7:98930064-98930064 12
3 COSM91896183 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 12
4 COSM94313279 TRRAP skin,trunk,malignant melanoma,NS c.3251C>T p.S1084L 7:98930064-98930064 12
5 COSM113091712 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 12
6 COSM91899482 TRRAP skin,trunk,malignant melanoma,NS c.3251C>T p.S1084L 7:98930064-98930064 12
7 COSM94308860 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 12
8 COSM146278644 TRRAP skin,trunk,malignant melanoma,NS c.3248C>T p.S1083L 7:98930064-98930064 12
9 COSM143945161 TP53 skin,trunk,malignant melanoma,NS c.379G>A p.E127K 17:7673764-7673764 12
10 COSM144652672 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 12
11 COSM144014790 TP53 skin,trunk,malignant melanoma,NS c.823G>A p.E275K 17:7673764-7673764 12
12 COSM142561493 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 12
13 COSM142838326 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 12
14 COSM93185054 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 12
15 COSM144311386 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 12
16 COSM106054649 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 12
17 COSM143158111 TP53 skin,trunk,malignant melanoma,NS c.379G>A p.E127K 17:7673764-7673764 12
18 COSM87899887 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 12
19 COSM122272986 TP53 skin,trunk,malignant melanoma,NS c.460G>A p.E154K 17:7673764-7673764 12
20 COSM144087977 TP53 skin,trunk,malignant melanoma,NS c.379G>A p.E127K 17:7673764-7673764 12
21 COSM112254871 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 12
22 COSM105621918 TP53 skin,trunk,malignant melanoma,NS c.782+417G>A p.? 17:7673764-7673764 12
23 COSM121878041 TP53 skin,trunk,malignant melanoma,NS c.460G>A p.E154K 17:7673764-7673764 12
24 COSM111759858 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 12
25 COSM122735403 TP53 skin,trunk,malignant melanoma,NS c.460G>A p.E154K 17:7673764-7673764 12
26 COSM145019215 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 12
27 COSM143372155 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 12
28 COSM90383615 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 12
29 COSM132518298 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 12
30 COSM133355781 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 12
31 COSM106817239 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 12
32 COSM92242702 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 12
33 COSM131469864 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 12
34 COSM97434346 TBX22 skin,trunk,malignant melanoma,NS c.1352G>T p.G451V 23:80030900-80030900 12
35 COSM97441849 TBX22 skin,trunk,malignant melanoma,NS c.1352G>T p.G451V 23:80030900-80030900 12
36 COSM122682817 SMG7 skin,trunk,malignant melanoma,NS c.2835C>T p.F945= 1:183549276-183549276 12
37 COSM92424732 SMG7 skin,trunk,malignant melanoma,NS c.2811C>T p.F937= 1:183549276-183549276 12
38 COSM123610414 SMG7 skin,trunk,malignant melanoma,NS c.2673C>T p.F891= 1:183549276-183549276 12
39 COSM123786828 SMG7 skin,trunk,malignant melanoma,NS c.2823C>T p.F941= 1:183549276-183549276 12
40 COSM94397397 SMG7 skin,trunk,malignant melanoma,NS c.2910C>T p.F970= 1:183549276-183549276 12
41 COSM92728951 RAC1 skin,trunk,malignant melanoma,NS c.85C>T p.P29S 7:6387261-6387261 12
42 COSM93451454 RAC1 skin,trunk,malignant melanoma,NS c.85C>T p.P29S 7:6387261-6387261 12
43 COSM97047727 PTPRK skin,trunk,malignant melanoma,NS c.2737G>A p.A913T 6:127996931-127996931 12
44 COSM97085176 PTPRK skin,trunk,malignant melanoma,NS c.2734G>A p.A912T 6:127996931-127996931 12
45 COSM97005952 PTPRK skin,trunk,malignant melanoma,NS c.2773G>A p.A925T 6:127996931-127996931 12
46 COSM130466610 PTPRK skin,trunk,malignant melanoma,NS c.2785G>A p.A929T 6:127996931-127996931 12
47 COSM97134573 PTPRK skin,trunk,malignant melanoma,NS c.2737G>A p.A913T 6:127996931-127996931 12
48 COSM96962026 PTPRK skin,trunk,malignant melanoma,NS c.2815G>A p.A939T 6:127996931-127996931 12
49 COSM92907716 PTPRD skin,trunk,malignant melanoma,NS c.2595G>A p.M865I 9:8486222-8486222 12
50 COSM117903594 PTPRD skin,trunk,malignant melanoma,NS c.1823-898G>A p.? 9:8486222-8486222 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 NRAS MC1R HRAS GNAQ GNA11
2
Show member pathways
12.42 NRAS HRAS GNAQ GNA11
3
Show member pathways
12.19 NRAS HRAS GNAQ GNA11
4
Show member pathways
11.85 HRAS GNAQ GNA11
5
Show member pathways
11.83 HRAS GNAQ GNA11
6 11.81 NRAS HRAS GNAQ
7 11.78 NRAS HRAS GNAQ
8 11.74 NRAS HRAS GNAQ
9
Show member pathways
11.73 NRAS HRAS GNAQ GNA11
10
Show member pathways
11.71 NRAS HRAS GNAQ
11 11.52 NRAS HRAS GNAQ GNA11
12 11.5 NRAS HRAS GNAQ GNA11
13 11.36 HRAS GNAQ GNA11
14 11.06 NRAS HRAS GNAQ GNA11
15 10.7 NRAS HRAS GNAQ GNA11
16
Show member pathways
10.68 GNAQ GNA11
17 10.63 NRAS HRAS GNAQ
18 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 action potential GO:0001508 9.32 GNAQ GNA11
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 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 9.56 NRAS HRAS GNAQ GNA11
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNAQ GNA11
3 guanyl nucleotide binding GO:0019001 9.16 GNAQ GNA11
4 magnesium ion transmembrane transporter activity GO:0015095 8.96 SLC41A1 MRS2
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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