GMN
MCID: LRG012
MIFTS: 53

Large Congenital Melanocytic Nevus (GMN)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases
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Aliases & Classifications for Large Congenital Melanocytic Nevus

MalaCards integrated aliases for Large Congenital Melanocytic Nevus:

Name: Large Congenital Melanocytic Nevus 11 19 58 28 5 14
Giant Pigmented Hairy Nevus 11 19 42 58 71
Giant Congenital Melanocytic Nevus 11 19 42 58
Gmn 11 42 58
Congenital Pigmented Nevus 11 58
Gphn 19 42
Lcmn 11 58
Congenital Giant Pigmented Nevus of Skin 42
Melanocytic Nevus Syndrome, Congenital 43
Congenital Melanocytic Nevus Syndrome 42
Giant Congenital Melanocytic Nevi 42
Giant Congenital Pigmented Nevus 42
Congenital Giant Pigmented Nevus 19
Giant Congenital Nevus 19
Congenital Hairy Nevus 19
Giant Pigmented Nevus 19
Bathing Trunk Nevus 19
Giant Hairy Nevus 19

Characteristics:


Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0111359
MeSH 43 C536819
NCIt 49 C3944 C4234
SNOMED-CT 68 254815002 84953004
ICD10 via Orphanet 32 D22.9
UMLS via Orphanet 72 C1318558 C1842036
Orphanet 58 ORPHA626
UMLS 71 C1318558 C1842036

Summaries for Large Congenital Melanocytic Nevus

MedlinePlus Genetics: 42 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 pigmented hairy nevus, is related to nevus, epidermal and eye disease. An important gene associated with Large Congenital Melanocytic Nevus is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Translation Translation regulation by Alpha-1 adrenergic receptors and MAP Kinase Signaling. Affiliated tissues include skin, spinal cord and brain, and related phenotypes are congenital giant melanocytic nevus and generalized hirsutism

GARD: 19 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).

Orphanet: 58 A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

Disease Ontology: 11 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.

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 279)
# Related Disease Score Top Affiliating Genes
1 nevus, epidermal 32.3 NRAS LRRC56 HRAS GNAQ GNA11
2 eye disease 31.0 NRAS MITF HRAS HGF GNAQ GNA11
3 melanocytic nevus syndrome, congenital 30.9 NRAS LRRC56 HRAS
4 neurilemmoma 30.6 SOX10 MLANA MITF
5 schimmelpenning-feuerstein-mims syndrome 30.5 NRAS LRRC56 HRAS GNAQ
6 plexiform neurofibroma 30.5 SOX10 HRAS CDKN2A
7 neurofibromatosis, type i 30.4 NRAS HRAS CDKN2A
8 vitiligo-associated multiple autoimmune disease susceptibility 1 30.3 MLANA MITF MC1R
9 conjunctival nevus 30.3 NRAS MLANA HRAS GNAQ GNA11
10 melanoma in congenital melanocytic nevus 30.3 SOX10 NRAS MLANA MITF MC1R HRAS
11 mongolian spot 30.3 MLANA GNAQ GNA11
12 cutaneous ganglioneuroma 30.3 MITF HRAS
13 amelanotic melanoma 30.2 SOX10 NRAS MLANA MITF MC1R
14 malignant peripheral nerve sheath tumor 30.1 SOX10 MITF HGF CDKN2A
15 skin disease 30.1 NRAS MLANA MITF MC1R HRAS CDKN2A
16 meningioma, familial 30.0 SOX10 MN1 MLANA HRAS CDKN2A
17 neurofibroma 30.0 SOX10 MLANA MITF HGF CDKN2A
18 melanoma 29.5 SOX10 NRAS MLANA MITF MC1R LRRC56
19 malignant spindle cell melanoma 29.5 SOX10 NRAS MLANA MITF HRAS GNAQ
20 skin melanoma 29.4 NRAS MLANA MITF MC1R LRRC56 HRAS
21 scalp syndrome 11.4
22 molybdenum cofactor deficiency, complementation group c 11.4
23 molybdenum cofactor deficiency 11.2
24 hyperekplexia 11.1
25 stiff-person syndrome 11.1
26 schizophrenia 11.0
27 retinitis pigmentosa 11.0
28 fragile x syndrome 11.0
29 anxiety 11.0
30 epilepsy 11.0
31 molybdenum cofactor deficiency, complementation group a 10.9
32 sulfite oxidase deficiency, isolated 10.9
33 cone-rod dystrophy 2 10.8
34 hyperekplexia 1 10.8
35 stargardt disease 1 10.8
36 molybdenum cofactor deficiency, complementation group b 10.8
37 epilepsy, myoclonic juvenile 10.8
38 epilepsy, idiopathic generalized 10.8
39 glycine encephalopathy 10.8
40 leber congenital amaurosis 13 10.8
41 hyperekplexia 2 10.8
42 blood group, globoside system 10.8
43 retinitis pigmentosa 84 10.8
44 stargardt disease 10.8
45 early infantile epileptic encephalopathy 10.8
46 pervasive developmental disorder 10.8
47 leber plus disease 10.8
48 developmental and epileptic encephalopathy 10.8
49 childhood absence epilepsy 10.8
50 cerebral palsy 10.8

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:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital giant melanocytic nevus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005600
2 generalized hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0002230
3 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
4 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
5 subcutaneous nodule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001482
6 rhabdomyosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002859
7 hypopigmented skin patches 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001053
8 pruritus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000989
9 cutaneous melanoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012056
10 nevus 58 Very frequent (99-80%)
11 neoplasm 58 Frequent (79-30%)
12 neoplasm of the skin 58 Occasional (29-5%)
13 sarcoma 58 Occasional (29-5%)
14 abnormality of skin pigmentation 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Large Congenital Melanocytic Nevus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 10.02 CDKN2A GNA11 GNAQ HGF MC1R MITF
2 no phenotypic analysis MP:0003012 9.92 CDKN2A HGF HRAS MC1R MITF MLANA
3 limbs/digits/tail MP:0005371 9.8 GNA11 GNAQ MC1R MITF NRAS SOX10
4 craniofacial MP:0005382 9.76 GNA11 GNAQ HRAS MC1R MITF MN1
5 respiratory system MP:0005388 9.56 CDKN2A GNA11 GNAQ HRAS LRRC56 MN1
6 integument MP:0010771 9.32 CDKN2A GNA11 GNAQ HRAS LRRC56 MC1R

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 28 HRAS NRAS

Anatomical Context for Large Congenital Melanocytic Nevus

Organs/tissues related to Large Congenital Melanocytic Nevus:

MalaCards : Skin, Spinal Cord, Brain, Lymph Node, Smooth Muscle, Thyroid, Breast

Publications for Large Congenital Melanocytic Nevus

Articles related to Large Congenital Melanocytic Nevus:

(show top 50) (show all 576)
# Title Authors PMID Year
1
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 62 5
24006476 2014
2
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 5
23392294 2013
3
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 5
22499344 2012
4
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 5
18633438 2009
5
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 5
12727991 2003
6
Amino-acid substitution at codon 13 of the N-ras oncogene in rectal cancer in a Japanese patient. 5
3102434 1987
7
Transcriptomic analysis of mRNA expression in giant congenital melanocytic nevi. 62
36174903 2023
8
SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation. 62
36456540 2022
9
Advanced malignant melanoma from a giant congenital melanocytic nevus in a child. 62
35654693 2022
10
Comparison of three different surgical approaches for the treatment of large/giant congenital melanocytic nevus. 62
35810351 2022
11
DDR2 mutation in a spilus-type giant congenital melanocytic nevus. 62
35620941 2022
12
Molybdenum Cofactor Deficiency in Humans. 62
36296488 2022
13
Tracking footprints of artificial and natural selection signatures in breeding and non-breeding cats. 62
36302822 2022
14
Reconstruction of Facial Multiunit Defects Using Expanded Scalp Flap with Laser Depilation in a Group of Predominantly Pediatric Patients. 62
35687387 2022
15
Association of novel MUC16, MAP3K15 and ABCA1 mutation with giant congenital melanocytic nevus. 62
36085074 2022
16
Clinical utility of liquid biopsy for monitoring patients with NRAS-mutant medium-to-giant congenital melanocytic nevi. 62
36151998 2022
17
The Bork-Baykal phenomenon and umbilical sparing in large and giant congenital melanocytic nevus: A 21-case series. 62
35972804 2022
18
Oncogenic properties via MAPK signaling of the SOX5-RAF1 fusion gene identified in a wild-type NRAS/BRAF giant congenital nevus. 62
35587097 2022
19
Topical therapy for regression and melanoma prevention of congenital giant nevi. 62
35561684 2022
20
Hip dislocation based on Developmental Dysplasia of the Hip (DDH) in a patient with Giant Congenital Melanocytic Nevus (GCMN): A rare coexistence. 62
35708440 2022
21
Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity. 62
35717442 2022
22
Psychosocial Experiences in Children With Congenital Melanocytic Nevus on the Face and Their Parents Throughout the Tissue Expansion Treatment. 62
34538792 2022
23
Establishment and characterization of an immortalized human giant congenital melanocytic nevi cell line. 62
35218152 2022
24
Spatiotemporal expression of NRAS and occurrence of giant congenital melanocytic nevi. 62
35020224 2022
25
Clinical course of more than 10 years in a patient with extensive skin burns who received cultured epidermal autograft transplantation. 62
35252486 2022
26
Neonatal Curettage of Large to Giant Congenital Melanocytic Nevi Under Local Anesthetic: A Case Series With Long-Term Follow Up. 62
34792421 2022
27
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy. 62
34617111 2022
28
Cross-talk between GABAergic postsynapse and microglia regulate synapse loss after brain ischemia. 62
35245123 2022
29
Risk of Malignant Transformation Arising From Giant Congenital Melanocytic Nevi: A 20-year Single-center Study. 62
34935754 2022
30
Giant Congenital Melanocytic Nevi and Poliosis in a 3-day-old Boy: Is It Just a Coincidence? 62
35223184 2022
31
Large Congenital Melanocytic Nevus With Halo Phenomenon. 62
35223161 2022
32
Giant congenital melanocytic nevus in an Afghan child. 62
35028147 2022
33
Quality of Life in Chinese Patients With Large Congenital Melanocytic Nevi. 62
35281247 2022
34
Correlated Expression of the Opsin Retrogene LWS-R and its Host Gene in Two Poeciliid Fishes. 62
36330033 2022
35
Molybdenum Cofactor Deficiency 62
34870926 2021
36
An update on congenital melanocytic nevus syndrome: A case report and literature review. 62
34255877 2021
37
Cultured epithelial autografts for the treatment of large-to-giant congenital melanocytic nevus in 31 patients. 62
34377751 2021
38
[An adult case of neurocutaneous melanosis with acute exacerbation after a long asymptomatic period following excision of a melanocytic nevus]. 62
34789628 2021
39
Treatment of giant congenital melanocytic nevi with cultured epithelial autografts: Clinical and histopathological analysis. 62
33778134 2021
40
A novel dual nerve transfer for restoration of shoulder function and sensory recovery of the hand, in patients with C567 traumatic root avulsion of the brachial plexus. 62
34741973 2021
41
Giant Congenital Melanocytic Nevus in a Pediatric Patient: Case Report. 62
34804761 2021
42
Surgical outcomes and psychosocial impact of giant congenital melanocytic nevus surgery: A single-center case series of 136 patients. 62
33461742 2021
43
Diagnostic utility of PRAME in distinguishing proliferative nodules from melanoma in giant congenital melanocytic nevi. 62
34164835 2021
44
The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children. 62
34643354 2021
45
A case of two foci of primary melanoma with metastasis to the skin in giant congenital melanocytic nevi. 62
34849141 2021
46
A prospective, comprehensive registry that integrates the molecular analysis of pediatric and adolescent melanocytic lesions. 62
34228365 2021
47
Metastatic Melanoma in a Child with Giant Congenital Melanocytic Nevus. 62
35068544 2021
48
Neurocutaneous melanocytosis-associated malignant melanoma presenting with peritoneal seeding. 62
34463389 2021
49
Giant nevus comedonicus of the entire lower left limb protecting from the associated bullous pemphigoid: A hypothetical role of NEK9 mutation? 62
34002421 2021
50
Histone deacetylase inhibitor Vorinostat (SAHA) suppresses micropthalmia transcription factor expression and induces cell death in nevocytes from large/giant congenital melanocytic nevi. 62
34054057 2021

Variations for Large Congenital Melanocytic Nevus

ClinVar genetic disease variations for Large Congenital Melanocytic Nevus:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic
13899 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
2 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) SNV Pathogenic
73058 rs121913254 GRCh37: 1:115256530-115256530
GRCh38: 1:114713909-114713909
3 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic
13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
4 HRAS, LRRC56 NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic
12606 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
5 HRAS, LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic
12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
6 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic
12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
7 HRAS, LRRC56 NM_005343.4(HRAS):c.179G>T (p.Gly60Val) SNV Pathogenic
391700 rs730880460 GRCh37: 11:533877-533877
GRCh38: 11:533877-533877
8 HRAS, LRRC56 NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) SNV Likely Benign
40448 rs397517144 GRCh37: 11:532686-532686
GRCh38: 11:532686-532686

Cosmic variations for Large Congenital Melanocytic Nevus:

8 (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 8
2 COSM113095017 TRRAP skin,trunk,malignant melanoma,NS c.3248C>T p.S1083L 7:98930064-98930064 8
3 COSM91896183 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 8
4 COSM94313279 TRRAP skin,trunk,malignant melanoma,NS c.3251C>T p.S1084L 7:98930064-98930064 8
5 COSM113091712 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 8
6 COSM91899482 TRRAP skin,trunk,malignant melanoma,NS c.3251C>T p.S1084L 7:98930064-98930064 8
7 COSM94308860 TRRAP skin,trunk,malignant melanoma,NS c.100C>T p.P34S 7:98881250-98881250 8
8 COSM146278644 TRRAP skin,trunk,malignant melanoma,NS c.3248C>T p.S1083L 7:98930064-98930064 8
9 COSM143945161 TP53 skin,trunk,malignant melanoma,NS c.379G>A p.E127K 17:7673764-7673764 8
10 COSM144652672 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 8
11 COSM144014790 TP53 skin,trunk,malignant melanoma,NS c.823G>A p.E275K 17:7673764-7673764 8
12 COSM142561493 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 8
13 COSM142838326 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 8
14 COSM93185054 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 8
15 COSM144311386 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 8
16 COSM106054649 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 8
17 COSM143158111 TP53 skin,trunk,malignant melanoma,NS c.379G>A p.E127K 17:7673764-7673764 8
18 COSM87899887 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 8
19 COSM122272986 TP53 skin,trunk,malignant melanoma,NS c.460G>A p.E154K 17:7673764-7673764 8
20 COSM144087977 TP53 skin,trunk,malignant melanoma,NS c.379G>A p.E127K 17:7673764-7673764 8
21 COSM112254871 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 8
22 COSM105621918 TP53 skin,trunk,malignant melanoma,NS c.782+417G>A p.? 17:7673764-7673764 8
23 COSM121878041 TP53 skin,trunk,malignant melanoma,NS c.460G>A p.E154K 17:7673764-7673764 8
24 COSM111759858 TP53 skin,trunk,malignant melanoma,NS c.856G>A p.E286K 17:7673764-7673764 8
25 COSM122735403 TP53 skin,trunk,malignant melanoma,NS c.460G>A p.E154K 17:7673764-7673764 8
26 COSM145019215 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 8
27 COSM143372155 TP53 skin,trunk,malignant melanoma,NS c.739G>A p.E247K 17:7673764-7673764 8
28 COSM90383615 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 8
29 COSM132518298 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 8
30 COSM133355781 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 8
31 COSM106817239 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 8
32 COSM92242702 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 8
33 COSM131469864 TNC skin,trunk,malignant melanoma,NS c.1342C>G p.R448G 9:115086389-115086389 8
34 COSM97434346 TBX22 skin,trunk,malignant melanoma,NS c.1352G>T p.G451V 23:80030900-80030900 8
35 COSM97441849 TBX22 skin,trunk,malignant melanoma,NS c.1352G>T p.G451V 23:80030900-80030900 8
36 COSM122682817 SMG7 skin,trunk,malignant melanoma,NS c.2835C>T p.F945= 1:183549276-183549276 8
37 COSM92424732 SMG7 skin,trunk,malignant melanoma,NS c.2811C>T p.F937= 1:183549276-183549276 8
38 COSM123610414 SMG7 skin,trunk,malignant melanoma,NS c.2673C>T p.F891= 1:183549276-183549276 8
39 COSM123786828 SMG7 skin,trunk,malignant melanoma,NS c.2823C>T p.F941= 1:183549276-183549276 8
40 COSM94397397 SMG7 skin,trunk,malignant melanoma,NS c.2910C>T p.F970= 1:183549276-183549276 8
41 COSM92728951 RAC1 skin,trunk,malignant melanoma,NS c.85C>T p.P29S 7:6387261-6387261 8
42 COSM93451454 RAC1 skin,trunk,malignant melanoma,NS c.85C>T p.P29S 7:6387261-6387261 8
43 COSM97047727 PTPRK skin,trunk,malignant melanoma,NS c.2737G>A p.A913T 6:127996931-127996931 8
44 COSM97085176 PTPRK skin,trunk,malignant melanoma,NS c.2734G>A p.A912T 6:127996931-127996931 8
45 COSM97005952 PTPRK skin,trunk,malignant melanoma,NS c.2773G>A p.A925T 6:127996931-127996931 8
46 COSM130466610 PTPRK skin,trunk,malignant melanoma,NS c.2785G>A p.A929T 6:127996931-127996931 8
47 COSM97134573 PTPRK skin,trunk,malignant melanoma,NS c.2737G>A p.A913T 6:127996931-127996931 8
48 COSM96962026 PTPRK skin,trunk,malignant melanoma,NS c.2815G>A p.A939T 6:127996931-127996931 8
49 COSM92907716 PTPRD skin,trunk,malignant melanoma,NS c.2595G>A p.M865I 9:8486222-8486222 8
50 COSM117903594 PTPRD skin,trunk,malignant melanoma,NS c.1823-898G>A p.? 9:8486222-8486222 8

Expression for Large Congenital Melanocytic Nevus

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

Pathways for Large Congenital Melanocytic Nevus

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 phototransduction, visible light GO:0007603 9.26 GNAQ GNA11
2 entrainment of circadian clock GO:0009649 8.92 GNAQ GNA11

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

# Name GO ID Score Top Affiliating Genes
1 guanyl nucleotide binding GO:0019001 8.62 GNAQ GNA11

Sources for Large Congenital Melanocytic Nevus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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