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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Nevus, Pigmented (D009508)
Parent Node: Skin Neoplasms (D012878)
..Starting node ..Nevus, Epidermal (C562736)
Child Nodes:
Sister Nodes:
..Abdominal chemodectomas with cutaneous angiolipomas (C535552)
..Acanthoma (D049309)
..Bazex-Dupre-Christol syndrome (C537663)
..Becker Nevus Syndrome (C565735)
..Blue rubber bleb nevus syndrome (C536240)
..Calcifying Epithelial Odontogenic Tumor (C537961)
..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
..Collagenoma, Familial Cutaneous (C562925)
..Davenport Donlan syndrome (C535988)
..Dermatopathia pigmentosa reticularis (C535374)
..Familial cylindromatosis (C536611)
..Familial multiple trichodiscomas (C536847)
..Fanconi like syndrome (C536855)
..Giant pigmented hairy nevus (C536819)
..Hamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..Histiocytosis, Progressive Mucinous (C564186)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..Nevus, Epidermal (C562736)
..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..Papillomatosis, Familial Cutaneous (C566832)
..Phacomatosis pigmentokeratotica (C537893)
..Reactive angioendotheliomatosis (C535293)
..Reed's syndrome (C535516)
..Rombo syndrome (C535870)
..Schwannomatosis (C536641)
..Sclerotylosis (C537526)
..Sebaceous Gland Neoplasms (D012626) 2
..Sweat Gland Neoplasms (D013544)
..Trichoepithelioma, Multiple Familial, 2 (C567418)
..Trichoepitheliomas, Multiple Desmoplastic (C566034)
..Trichofolliculoma (C536553)
..Tufted angioma (C536924)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8039

Name:

Nevus, Epidermal

Definition:

Alternative IDs:

OMIM:162900

ParentIDs:

MESH:D009508|MESH:D012878

TreeNumbers:

C04.557.665.560.615/C562736 |C04.588.805/C562736 |C17.800.882/C562736

Synonyms:

Nevus, Keratinocytic, Nonepidermolytic |NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS, INCLUDED |PIGMENTED MOLES

Slim Mappings:

Cancer|Skin disease

Reference:

MedGen: C562736
MeSH: C562736
OMIM: 162900;

Genes: FGFR3; HRAS; NRAS; PIK3CA;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000995	Melanocytic nevus
3	HP:0001054	Numerous nevi

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg)	-1	-	Pathogenic	104894228	RCV000032852; RCV000029212; RCV000029213; RCV000173005; RCV000173006;	N	; MedGen:C0265318,OMIM:163200,SNOMED CT:239112008; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0853032	11	534286	534286	NM_005343.3:c.37G>C	NP_005334.1:p.Gly13Arg		OMIM Allelic Variant:190020.0017	C0334082 162900 Epidermal nevus; C0265318 163200 Epidermal nevus syndrome; C1838979 252010 Mitochondrial complex I deficiency; C0853032 Nevus sebaceous
NM_005343.3(HRAS):c.35G>T (p.Gly12Val)	-1	-	Pathogenic	104894230	RCV000013432; RCV000013433; RCV000032850; RCV000013431; RCV000157912;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0587248,OMIM:218040,ORPHA:3071,SNOMED CT:309776008; MedGen:C1968782; MedGen:CN221809	11	534288	534288	NM_005343.3:c.35G>T	NP_005334.1:p.Gly12Val		OMIM Allelic Variant:190020.0001	C0587248 218040 Costello syndrome; C0334082 162900 Epidermal nevus; C0005684 109800 Malignant tumor of urinary bladder; C1838979 252010 Mitochondrial complex I deficiency; C1968782 Myopathy, congenital, with excess of muscle spindles; CN221809 not prov
NM_005343.3(HRAS):c.34G>T (p.Gly12Cys)	-1	-	Pathogenic	104894229	RCV000013447; RCV000032851; RCV000029211; RCV000149829; RCV000212495;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0587248,OMIM:218040,ORPHA:3071,SNOMED CT:309776008; MedGen:C0853032; MedGen:CN166718; MedGen:CN221809	11	534289	534289	NM_005343.3:c.34G>T	NP_005334.1:p.Gly12Cys		OMIM Allelic Variant:190020.0014	C0587248 218040 Costello syndrome; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C0853032 Nevus sebaceous; CN221809 not provided; CN166718 Rasopathy
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys)	2261	FGFR3	Pathogenic	121913482	RCV000017734; RCV000017731; RCV000017733; RCV000017735; RCV000017732;	N	MedGen:C0022603,OMIM:182000; MedGen:C0026764,OMIM:254500,ORPHA:29073,SNOMED CT:109989006,SNOMED CT:55921005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C1851152; MedGen:C1868678,OMIM:187600	4	1803564	1803564	NM_000142.4:c.742C>T	NP_000133.1:p.Arg248Cys	NC_000004.11:g.1803564C>T	OMIM Allelic Variant:134934.0005	C0334082 162900 Epidermal nevus; C0022603 182000 Keratosis, seborrheic; C1838979 252010 Mitochondrial complex I deficiency; C0026764 254500 Multiple myeloma; C1851152 Skeletal dysplasia with acanthosis nigricans; C1868678 187600 Thanatophoric dysplasia
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys)	2261	FGFR3	Pathogenic	121913479	RCV000029208; RCV000017770;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C1868678,OMIM:187600	4	1806089	1806089	NM_000142.4:c.1108G>T	NP_000133.1:p.Gly370Cys	NC_000004.11:g.1806089G>T	OMIM Allelic Variant:134934.0033	C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg)	2261	FGFR3	Pathogenic	28931614	RCV000017724; RCV000029207; RCV000017763;	Y	MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003	4	1806119	1806119	NM_000142.4:c.1138G>A	NP_000133.1:p.Gly380Arg	NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C	OMIM Allelic Variant:134934.0001,OMIM Allelic Variant:134934.0027	C0001080 100800 Achondroplasia; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg)	2261	FGFR3	Pathogenic	28931614	RCV000017724; RCV000029207; RCV000017763;	Y	MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003	4	1806119	1806119	NM_000142.4:c.1138G>A	NP_000133.1:p.Gly380Arg	NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C	OMIM Allelic Variant:134934.0001,OMIM Allelic Variant:134934.0027	C0001080 100800 Achondroplasia; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency
NM_002524.4(NRAS):c.182A>G (p.Gln61Arg)	4893	NRAS	Pathogenic	11554290	RCV000014914; RCV000037574; RCV000032847; RCV000148032; RCV000114744; RCV000114745;	N	MedGen:C0007131,SNOMED CT:254637007; MedGen:C0206682,OMIM:188470; MedGen:C0265318,OMIM:163200,SNOMED CT:239112008; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0544862,OMIM:249400,ORPHA:2481; MedGen:C1842036,OMIM:137550	1	115256529	115256529	NM_002524.4:c.182A>G	NP_002515.1:p.Gln61Arg	NC_000001.10:g.115256529T>C	OMIM Allelic Variant:164790.0002	C0334082 162900 Epidermal nevus; C0265318 163200 Epidermal nevus syndrome; C1842036 137550 Giant pigmented hairy nevus; C1838979 252010 Mitochondrial complex I deficiency; C0544862 249400 Neurocutaneous melanosis; C0007131 Non-small cell lung cancer; C0
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)	4893	NRAS	Pathogenic	397514553	RCV000208568; RCV000032848;	N	MedGen:C0041409,OMIM:163950; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003	1	115258681	115258681	NM_002524.4:c.101C>T	NP_002515.1:p.Pro34Leu	NC_000001.10:g.115258681G>A	OMIM Allelic Variant:164790.0006	C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C0041409 163950 Noonan syndrome 1
NM_002524.4(NRAS):c.35G>A (p.Gly12Asp)	4893	NRAS	Pathogenic	121913237	RCV000144963; RCV000032849; RCV000158980;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0349639,OMIM:607785,ORPHA:86834; MedGen:CN166718	1	115258747	115258747	NM_002524.4:c.35G>A	NP_002515.1:p.Gly12Asp	NC_000001.10:g.115258747C>A,NC_000001.10:g.115258747C>G,NC_000001.10:g.115258747	OMIM Allelic Variant:164790.0007	C0334082 162900 Epidermal nevus; C0349639 607785 Juvenile myelomonocytic leukemia; C1838979 252010 Mitochondrial complex I deficiency; CN166718 Rasopathy
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly)	5290	PIK3CA	Pathogenic	121913274	RCV000014637; RCV000014638;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	3	178936092	178936092	NM_006218.3:c.1634A>G	NP_006209.2:p.Glu545Gly		OMIM Allelic Variant:171834.0004	C0699790 114500 Carcinoma of colon; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency