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MCID: DYS002
MIFTS: 36

Dysplastic Nevus Syndrome

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Dysplastic Nevus Syndrome

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MalaCards integrated aliases for Dysplastic Nevus Syndrome:

Name: Dysplastic Nevus Syndrome 12 76 55 44 15 73
Melanoma-Pancreatic Cancer Syndrome 53 59 73
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome 53 59
Familial Atypical Multiple Mole Melanoma Syndrome 53 59
Familial Atypical Multiple Mole-Melanoma 12 73
Familial Atypical Mole Melanoma Syndrome 53 73
Familial Dysplastic Nevus Syndrome 53 59
Familial Atypical Mole Syndrome 53 59
Familial Clark Nevus Syndrome 53 59
B-K Mole Syndrome 53 59
Famm-Pc Syndrome 53 59
Fammm Syndrome 53 59
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma 53
Familial Atypical Multiple Mole Melanoma 55
Famm Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
familial atypical multiple mole melanoma syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases
Anatomical: Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:10041
MeSH 44 D004416
Orphanet 59 ORPHA404560
UMLS via Orphanet 74 C0205747 C0013403 C2314896 more
ICD10 via Orphanet 34 D22.9
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Summaries for Dysplastic Nevus Syndrome

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NIH Rare Diseases : 53 Familial atypical multiple mole melanomasyndrome (FAMMM syndrome) is an inherited condition characterized by the presence of multiple moles.Atypical moles, also called dysplastic nevi, are benign but are associated with an increased risk of melanoma. They can occur sporadically (with no other cases in a family), but are a symptom of FAMMM when multiple family members are affected. FAMMM syndrome may also increase the risk of pancreatic cancer in addition to melanoma. FAMMM syndrome is marked by:one or more 1st or 2nd degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; many moles, some of which are atypical (asymmetrical, raised, or different shades of color) and often of different sizes; and moles that have specific features when examined under a microscope. FAMMM syndrome may be caused by mutations in the CDKN2A gene (in about 40% of cases) or CDK4 gene (in very rare cases). However, in about 60% of cases, the cause is unknown. Inheritance is autosomal dominant. Treatment for FAMMM syndrome typically involves surgery. Family members of people with this condition should have surveillance at periodic intervals for melanoma.

MalaCards based summary : Dysplastic Nevus Syndrome, also known as melanoma-pancreatic cancer syndrome, is related to melanoma-pancreatic cancer syndrome and melanoma, cutaneous malignant 1. An important gene associated with Dysplastic Nevus Syndrome is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A). The drugs Tretinoin and Fenretinide have been mentioned in the context of this disorder. Affiliated tissues include skin, pancreas and testes.

Wikipedia : 76 Dysplastic nevus syndrome (also known as "atypical mole syndrome (AMS)", "familial atypical multiple... more...

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Related Diseases for Dysplastic Nevus Syndrome

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Diseases related to Dysplastic Nevus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 melanoma-pancreatic cancer syndrome 12.8
2 melanoma, cutaneous malignant 1 11.5
3 melanoma 10.7
4 skin melanoma 10.5
5 intraocular melanoma 10.2
6 beckwith-wiedemann syndrome 10.1
7 birt-hogg-dube syndrome 10.1
8 incontinentia pigmenti 10.1
9 pancreatic ductal adenocarcinoma 10.1
10 adenocarcinoma 10.1
11 pancreatic cancer 10.1
12 basal cell nevus syndrome 10.1
13 glycogen-rich clear cell breast carcinoma 10.0 CDKN2A BRCA2
14 breast giant fibroadenoma 10.0 CDKN2A BRCA2
15 pre-malignant neoplasm 10.0 CDKN2A BRCA2
16 ocular cancer 10.0 CDKN2A BRCA2
17 neurofibroma 10.0
18 female reproductive system disease 10.0 CDKN2A BRCA2
19 reproductive system disease 10.0 CDKN2A BRCA2
20 li-fraumeni syndrome 10.0 CDKN2A BRCA2
21 endocrine gland cancer 10.0 CDKN2A BRCA2
22 melanoma, uveal 9.9
23 neurofibromatosis, type i 9.9
24 mycosis fungoides 9.9
25 polycythemia vera 9.9
26 oculocutaneous albinism 9.9
27 primary hyperparathyroidism 9.9
28 hyperparathyroidism 9.9
29 gallbladder melanoma 9.9
30 polycythemia 9.9
31 albinism 9.9
32 ocular melanoma 9.9
33 lipomatosis 9.9
34 lynch syndrome 9.9 CDKN2A BRCA2
35 pancreas adenocarcinoma 9.9 PALLD CDKN2A BRCA2
36 breast disease 9.8 CDKN2A BRCA2

Graphical network of the top 20 diseases related to Dysplastic Nevus Syndrome:



Diseases related to Dysplastic Nevus Syndrome
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Symptoms & Phenotypes for Dysplastic Nevus Syndrome

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Drugs & Therapeutics for Dysplastic Nevus Syndrome

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Drugs for Dysplastic Nevus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
2
Fenretinide Investigational Phase 2 65646-68-6
3
Betulinic acid Investigational Phase 1, Phase 2 472-15-1 2371
4 Dermatologic Agents Phase 2
5 Keratolytic Agents Phase 2
6 Antirheumatic Agents Phase 1, Phase 2
7 Peripheral Nervous System Agents Phase 1, Phase 2
8 Antiprotozoal Agents Phase 1, Phase 2
9 Antiviral Agents Phase 1, Phase 2
10 Analgesics, Non-Narcotic Phase 1, Phase 2
11 Anti-HIV Agents Phase 1, Phase 2
12 Antiparasitic Agents Phase 1, Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
14 Antimalarials Phase 1, Phase 2
15 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
16 Analgesics Phase 1, Phase 2
17 Hormone Antagonists Phase 1, Phase 2
18 Hormones Phase 1, Phase 2
19 Anti-Retroviral Agents Phase 1, Phase 2
20 Prostaglandin Antagonists Phase 1, Phase 2
21 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
22 Anti-Infective Agents Phase 1, Phase 2
23 Anti-Inflammatory Agents Phase 1, Phase 2
24
Pancrelipase Approved, Investigational 53608-75-6
25
Sulforaphane Investigational Early Phase 1 142825-10-3, 4478-93-7 5350
26 Sulforafan Early Phase 1
27 Protective Agents Early Phase 1
28 pancreatin

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Tretinoin With or Without Fenretinide in Treating Patients With Dysplastic Nevus Syndrome Completed NCT00003601 Phase 2 fenretinide;tretinoin
2 Evaluation of 20% Betulinic Acid Ointment for Treatment of Dysplastic Nevi (Moderate to Severe Dysplasia) Suspended NCT00346502 Phase 1, Phase 2 20% betulinic acid ointment;BA
3 Using High Resolution Function Imaging To Detect Melanoma and Dysplastic Nevi Unknown status NCT01118832
4 Genetic Identification (ID) of Segmental Dysplastic Nevi Unknown status NCT00955578
5 Prospective Study of 2 mm Margins for the Biopsy of Dysplastic Nevi Completed NCT03094273
6 Pilot Study Evaluating Sulforaphane in Atypical Nevi-Precursor Lesions Completed NCT01568996 Early Phase 1 broccoli sprout extract - sulforaphane (BSE-SFN);broccoli sprout extract - sulforaphane (BSE-SFN);broccoli sprout extract - sulforaphane (BSE-SFN)
7 Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma Recruiting NCT00040352
8 Artificial Intelligence-assisted Evaluation of Pigmented Skin Lesions Recruiting NCT03362138
9 Family Study of Melanoma in Italy Recruiting NCT00339222
10 A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups Recruiting NCT03693378
11 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
12 Potential Research Study Participant Registry Recruiting NCT00710489
13 Smartphone Application to Detect Skin Lesions Active, not recruiting NCT02740257
14 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
15 Internet-based Intervention for Skin Self-Examination in Participants With Increased Risk for Melanoma Not yet recruiting NCT03725449 Not Applicable

Search NIH Clinical Center for Dysplastic Nevus Syndrome

Cochrane evidence based reviews: dysplastic nevus syndrome

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Genetic Tests for Dysplastic Nevus Syndrome

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Anatomical Context for Dysplastic Nevus Syndrome

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MalaCards organs/tissues related to Dysplastic Nevus Syndrome:

41
Skin, Pancreas, Testes, Testis, Breast
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Publications for Dysplastic Nevus Syndrome

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Articles related to Dysplastic Nevus Syndrome:

(show top 50) (show all 104)
# Title Authors Year
1
Erythematous-violaceous macule on the chest in a patient with dysplastic nevus syndrome. ( 27444088 )
2016
2
Four cases of dysplastic nevus syndrome. ( 25143698 )
2014
3
Primary gallbladder melanoma in dysplastic nevus syndrome: report of case and literature review. ( 22287410 )
2011
4
Dysplastic nevus syndrome with development of multiple melanomas. A surgical concept for prophylaxis. ( 19456853 )
2009
5
Neurofibromatosis type 1 associated with dysplastic nevus syndrome. ( 19595268 )
2009
6
Monitoring of kindreds with hereditary predisposition for cutaneous melanoma and dysplastic nevus syndrome: results of a Swedish preventive program. ( 17602087 )
2007
7
Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy. ( 18024887 )
2007
8
Mycosis fungoides associated with malignant melanoma and dysplastic nevus syndrome. ( 12708999 )
2003
9
Analysis of the p16 gene status of non-familial dysplastic nevus syndrome patients. ( 11820732 )
2001
10
Melanoma in situ of the oral mucosa in an adolescent with dysplastic nevus syndrome. ( 10775869 )
2000
11
The dangers of atypical mole (dysplastic nevus) syndrome. Teaching at-risk patients to protect themselves from melanoma. ( 10376056 )
1999
12
Interferon alfa-2b-induced Meyerson's nevi in a patient with dysplastic nevus syndrome. ( 9922023 )
1999
13
Repair of directly and indirectly UV-induced DNA lesions and of DNA double-strand breaks in cells from skin cancer-prone patients with the disorders dysplastic nevus syndrome or basal cell nevus syndrome. ( 8912431 )
1997
14
Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. ( 9439668 )
1997
15
Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization. ( 8818188 )
1996
16
DNA repair synthesis following irradiation with 254-nm and 312-nm ultraviolet light is not diminished in fibroblasts from patients with dysplastic nevus syndrome. ( 7797597 )
1995
17
[Clinico-genetic aspects of cutaneous melanoma. II. Interconnection and pathogenetic commonality with dysplastic nevus syndrome]. ( 8666223 )
1995
18
Prevalence of primary acquired melanosis and nevi of the conjunctiva and uvea in the dysplastic nevus syndrome. A case-control study. ( 9097801 )
1995
19
A potential laboratory test for dysplastic nevus syndrome: ultraviolet hypermutability of a shuttle vector plasmid. ( 8027583 )
1994
20
Hereditary melanoma and dysplastic nevus syndrome. ( 7863111 )
1994
21
Conjunctival and uveal melanoma in the dysplastic nevus syndrome. ( 8484171 )
1993
22
A rational approach to the understanding and management of the dysplastic nevus syndrome concept. ( 8416135 )
1993
23
Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families. ( 1737509 )
1992
24
Dysplastic nevi and the dysplastic nevus syndrome. ( 1730167 )
1992
25
Regressive logistic models in linkage analysis of the cutaneous malignant melanoma-dysplastic nevus syndrome. ( 1737497 )
1992
26
Dysplastic nevus syndrome among Japanese. A case study and review of the Japanese literature. ( 1510212 )
1992
27
Dysplastic nevus syndrome: melanoma-prone disease. ( 1363425 )
1992
28
Dysplastic nevus syndrome: intrafamilial identification of carriers by cytogenetics. ( 1392119 )
1992
29
Pregnancy and sex steroid hormone effects on nevi of patients with the dysplastic nevus syndrome. ( 1918487 )
1991
30
Fibroblasts derived from patients with dysplastic nevus syndrome are not more sensitive towards 254-nm and 312-nm ultraviolet light than fibroblasts from normal donors. ( 1997474 )
1991
31
Ocular findings in patients with dysplastic nevus syndrome. An update. ( 1934647 )
1991
32
Dysplastic nevi. Occurrence in first- and second-degree relatives of patients with 'sporadic' dysplastic nevus syndrome. ( 1892403 )
1991
33
Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds. ( 1770551 )
1991
34
A relation between childhood sun exposure and dysplastic nevus syndrome among patients with nonfamilial melanoma. ( 2054404 )
1991
35
An appraisal of the dysplastic nevus syndrome concept. ( 1983959 )
1991
36
Dysplastic nevus syndrome: a review. ( 2062297 )
1991
37
Prospective follow-up for malignant melanoma in patients with atypical-mole (dysplastic-nevus) syndrome. ( 1991880 )
1991
38
Inverse relation between density of nevi and terminal cutaneous hair. Study of male volunteer subjects and patients enrolled in a dysplastic nevus syndrome registry. ( 2061439 )
1991
39
Diagnosis and management of dysplastic nevus syndrome and early melanoma. ( 2144182 )
1990
40
Increased epidermal growth factor receptors in seborrheic keratoses and acrochordons of patients with the dysplastic nevus syndrome. ( 2148753 )
1990
41
Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36. ( 2339690 )
1990
42
Ocular melanoma in families with dysplastic nevus syndrome. ( 2254470 )
1990
43
Bioreduction of 4-nitroquinoline 1-oxide in dysplastic nevus syndrome fibroblasts. ( 2494449 )
1989
44
The familial dysplastic nevus syndrome. Natural history and the impact of screening on prognosis. A study of nine families in the Netherlands. ( 2702987 )
1989
45
Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. ( 2504660 )
1989
46
Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome. ( 2790806 )
1989
47
Diminished cutaneous hair density in dysplastic nevus syndrome. ( 2774611 )
1989
48
BCG granulomas in a dysplastic nevus syndrome patient. ( 2964424 )
1988
49
The dysplastic nevus syndrome. ( 3401023 )
1988
50
Dysplastic nevus syndrome--biological significance. ( 3206238 )
1988
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Variations for Dysplastic Nevus Syndrome

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ClinVar genetic disease variations for Dysplastic Nevus Syndrome:

6 (show top 50) (show all 115)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh37 Chromosome 9, 21971114: 21971132
2 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh38 Chromosome 9, 21971115: 21971133
3 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
4 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
5 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh37 Chromosome 9, 21974756: 21974756
6 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh38 Chromosome 9, 21974757: 21974757
7 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh37 Chromosome 9, 21970981: 21970981
8 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh38 Chromosome 9, 21970982: 21970982
9 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh37 Chromosome 9, 21971182: 21971182
10 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh38 Chromosome 9, 21971183: 21971183
11 CDKN2A CDKN2A, 5-BP DUP, NT19 duplication Pathogenic
12 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh37 Chromosome 9, 21974640: 21974640
13 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh38 Chromosome 9, 21974641: 21974641
14 CDKN2A NM_000077.4(CDKN2A): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs146179135 GRCh37 Chromosome 9, 21970985: 21970985
15 CDKN2A NM_000077.4(CDKN2A): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs146179135 GRCh38 Chromosome 9, 21970986: 21970986
16 CDKN2A NM_000077.4(CDKN2A): c.379G> T (p.Ala127Ser) single nucleotide variant Benign/Likely benign rs6413464 GRCh37 Chromosome 9, 21970979: 21970979
17 CDKN2A NM_000077.4(CDKN2A): c.379G> T (p.Ala127Ser) single nucleotide variant Benign/Likely benign rs6413464 GRCh38 Chromosome 9, 21970980: 21970980
18 CDKN2A NM_000077.4(CDKN2A): c.430C> T (p.Arg144Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116150891 GRCh37 Chromosome 9, 21970928: 21970928
19 CDKN2A NM_000077.4(CDKN2A): c.430C> T (p.Arg144Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116150891 GRCh38 Chromosome 9, 21970929: 21970929
20 CDKN2A NM_000077.4(CDKN2A): c.442G> A (p.Ala148Thr) single nucleotide variant Benign rs3731249 GRCh37 Chromosome 9, 21970916: 21970916
21 CDKN2A NM_000077.4(CDKN2A): c.442G> A (p.Ala148Thr) single nucleotide variant Benign rs3731249 GRCh38 Chromosome 9, 21970917: 21970917
22 CDKN2A NM_000077.4(CDKN2A): c.-25C> T single nucleotide variant Benign/Likely benign rs144481587 GRCh37 Chromosome 9, 21974851: 21974851
23 CDKN2A NM_000077.4(CDKN2A): c.-25C> T single nucleotide variant Benign/Likely benign rs144481587 GRCh38 Chromosome 9, 21974852: 21974852
24 CDKN2A NM_000077.4(CDKN2A): c.146T> C (p.Ile49Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199907548 GRCh37 Chromosome 9, 21974681: 21974681
25 CDKN2A NM_000077.4(CDKN2A): c.146T> C (p.Ile49Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199907548 GRCh38 Chromosome 9, 21974682: 21974682
26 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh37 Chromosome 9, 21970989: 21970989
27 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh38 Chromosome 9, 21970990: 21970990
28 CDKN2A NM_000077.4(CDKN2A): c.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh37 Chromosome 9, 21971184: 21971184
29 CDKN2A NM_000077.4(CDKN2A): c.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh38 Chromosome 9, 21971185: 21971185
30 CDKN2A NM_000077.4(CDKN2A): c.458-491C> T single nucleotide variant Benign rs181044510 GRCh37 Chromosome 9, 21968732: 21968732
31 CDKN2A NM_000077.4(CDKN2A): c.458-491C> T single nucleotide variant Benign rs181044510 GRCh38 Chromosome 9, 21968733: 21968733
32 CDKN2A NM_000077.4(CDKN2A): c.458-492G> C single nucleotide variant Likely benign rs527814073 GRCh37 Chromosome 9, 21968733: 21968733
33 CDKN2A NM_000077.4(CDKN2A): c.458-492G> C single nucleotide variant Likely benign rs527814073 GRCh38 Chromosome 9, 21968734: 21968734
34 CDKN2A NM_000077.4(CDKN2A): c.273G> A (p.Leu91=) single nucleotide variant Conflicting interpretations of pathogenicity rs4987127 GRCh37 Chromosome 9, 21971085: 21971085
35 CDKN2A NM_000077.4(CDKN2A): c.273G> A (p.Leu91=) single nucleotide variant Conflicting interpretations of pathogenicity rs4987127 GRCh38 Chromosome 9, 21971086: 21971086
36 CDKN2A NM_000077.4(CDKN2A): c.150+20C> T single nucleotide variant Likely benign rs550846229 GRCh37 Chromosome 9, 21974657: 21974657
37 CDKN2A NM_000077.4(CDKN2A): c.150+20C> T single nucleotide variant Likely benign rs550846229 GRCh38 Chromosome 9, 21974658: 21974658
38 CDKN2A NM_000077.4(CDKN2A): c.-19436C> T single nucleotide variant Benign/Likely benign rs374360796 GRCh37 Chromosome 9, 21994262: 21994262
39 CDKN2A NM_000077.4(CDKN2A): c.-19436C> T single nucleotide variant Benign/Likely benign rs374360796 GRCh38 Chromosome 9, 21994263: 21994263
40 CDKN2A NM_000077.4(CDKN2A): c.-2G> A single nucleotide variant Benign/Likely benign rs191394143 GRCh37 Chromosome 9, 21974828: 21974828
41 CDKN2A NM_000077.4(CDKN2A): c.-2G> A single nucleotide variant Benign/Likely benign rs191394143 GRCh38 Chromosome 9, 21974829: 21974829
42 CDKN2A NM_058195.3(CDKN2A): c.194-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs529380972 GRCh37 Chromosome 9, 21971211: 21971211
43 CDKN2A NM_058195.3(CDKN2A): c.194-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs529380972 GRCh38 Chromosome 9, 21971212: 21971212
44 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh38 Chromosome 9, 21971106: 21971119
45 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh37 Chromosome 9, 21971105: 21971118
46 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
47 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
48 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh38 Chromosome 9, 21994359: 21994359
49 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh37 Chromosome 9, 21994358: 21994358
50 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Likely benign rs199901898 GRCh37 Chromosome 9, 21970974: 21970974
Sources

Expression for Dysplastic Nevus Syndrome

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Search GEO for disease gene expression data for Dysplastic Nevus Syndrome.
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Pathways for Dysplastic Nevus Syndrome

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GO Terms for Dysplastic Nevus Syndrome

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Sources for Dysplastic Nevus Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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