POROK3
MCID: PRK080
MIFTS: 31

Porokeratosis 3, Multiple Types (POROK3)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis 3, Multiple Types

MalaCards integrated aliases for Porokeratosis 3, Multiple Types:

Name: Porokeratosis 3, Multiple Types 57 74
Porokeratosis, Disseminated Superficial Actinic, 1 57 74 72
Porokeratosis, Disseminated Superficial Actinic 1 53 29 6
Dsap1 57 53 74
Porok3 57 74
Porokeratosis, Disseminated Superficial Actinic, 1; Dsap1 57
Porokeratosis 3, Disseminated Superficial Actinic Type 74
Disseminated Superficial Actinic Porokeratosis 1 74
Porokeratosis, Type 3, Multiple Types 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade


HPO:

32
porokeratosis 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D017499
MedGen 42 C1867981
UMLS 72 C1867981

Summaries for Porokeratosis 3, Multiple Types

OMIM : 57 Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis. The preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.' Disseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012). For a discussion of genetic heterogeneity of porokeratosis, see 175800. (175900)

MalaCards based summary : Porokeratosis 3, Multiple Types, also known as porokeratosis, disseminated superficial actinic, 1, is related to porokeratosis and porokeratosis 4, disseminated superficial actinic type. An important gene associated with Porokeratosis 3, Multiple Types is MVK (Mevalonate Kinase). Affiliated tissues include skin, and related phenotypes are nail dystrophy and parakeratosis

UniProtKB/Swiss-Prot : 74 Porokeratosis 3, multiple types: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.

Related Diseases for Porokeratosis 3, Multiple Types

Diseases in the Porokeratosis family:

Porokeratosis 1, Multiple Types Porokeratosis 3, Multiple Types
Porokeratosis 6, Multiple Types Porokeratosis 7, Multiple Types
Porokeratosis 9, Multiple Types

Diseases related to Porokeratosis 3, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 11.7
2 porokeratosis 4, disseminated superficial actinic type 10.3
3 porokeratosis 5, disseminated superficial actinic type 10.2
4 porokeratosis 6, multiple types 10.2
5 porokeratosis 7, multiple types 10.2
6 porokeratosis 8, disseminated superficial actinic type 10.2

Graphical network of the top 20 diseases related to Porokeratosis 3, Multiple Types:



Diseases related to Porokeratosis 3, Multiple Types

Symptoms & Phenotypes for Porokeratosis 3, Multiple Types

Human phenotypes related to Porokeratosis 3, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 occasional (7.5%) HP:0008404
2 parakeratosis 32 HP:0001036
3 porokeratosis 32 HP:0200044

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
porokeratosis of mibelli
hyperkeratotic porokeratosis
small, annular, anhidrotic keratotic lesions located predominantly on sun-exposed areas
central atrophic area with peripheral keratotic ridge
disseminated superficial actinic porokeratosis
more
Skin Nails Hair Nails:
nail dystrophy (in some patients)

Skin Nails Hair Skin Histology:
epidermal atrophy
vertical columns of parakeratosis (cornoid lamella) overlying absent or reduced granular layer with dyskeratotic cells
nonspecific perivascular infiltrate of chronic inflammatory cells

Clinical features from OMIM:

175900

Drugs & Therapeutics for Porokeratosis 3, Multiple Types

Search Clinical Trials , NIH Clinical Center for Porokeratosis 3, Multiple Types

Genetic Tests for Porokeratosis 3, Multiple Types

Genetic tests related to Porokeratosis 3, Multiple Types:

# Genetic test Affiliating Genes
1 Porokeratosis, Disseminated Superficial Actinic 1 29 MVK

Anatomical Context for Porokeratosis 3, Multiple Types

MalaCards organs/tissues related to Porokeratosis 3, Multiple Types:

41
Skin

Publications for Porokeratosis 3, Multiple Types

Articles related to Porokeratosis 3, Multiple Types:

(show all 25)
# Title Authors PMID Year
1
Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1. 38 8 71
15149516 2004
2
Genomic variations of the mevalonate pathway in porokeratosis. 8 71
26202976 2015
3
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. 8 71
24781643 2014
4
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 8 71
22983302 2012
5
Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned. 8 71
17392836 2007
6
A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis. 8 71
15840095 2005
7
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis. 71
24794831 2014
8
Identification of a locus (DSP2) for disseminated superficial porokeratosis at chromosome 12q21.2-24.21. 8
22680787 2012
9
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association? 8
17621637 2007
10
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. 71
16835861 2006
11
Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. 8
15459975 2004
12
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. 71
11313769 2001
13
Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. 8
10844547 2000
14
Porokeratosis of Mibelli. Overview and review of the literature. 8
9188872 1997
15
Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis. 8
2063934 1991
16
Linear porokeratosis in two families with disseminated superficial actinic porokeratosis. 8
3321004 1987
17
Porokeratosis. Two morphologic forms within a family. 8
7212751 1981
18
Disseminated superficial actinic porokeratosis. Analysis of an affected family. 8
974029 1976
19
Linear porokeratosis. A distinctive clinical variant of porokeratosis of Mibelli. 8
4819108 1974
20
Linear porokeratosis in a family with DSAP. 8
5048228 1972
21
Disseminated superficial actinic porokeratosis. Clinical studies and experimental production of lesions. 8
5769325 1969
22
Disseminated superficial actinic porokeratosis. Genetic aspects. 8
5769326 1969
23
Disseminated superficial actinic porokeratosis (DSAP). 8
4864722 1967
24
Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. 38
18443824 2008
25
[Refinement of DSAP1 locus and mutation detection for candidate genes]. 38
16078733 2005

Variations for Porokeratosis 3, Multiple Types

ClinVar genetic disease variations for Porokeratosis 3, Multiple Types:

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MVK NM_000431.4(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 12:110032947-110032947 12:109595142-109595142
2 MVK NM_000431.4(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 12:110029080-110029080 12:109591275-109591275
3 MVK NM_000431.4(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 12:110032875-110032875 12:109595070-109595070
4 MVK NM_000431.4(MVK): c.764T> C (p.Leu255Pro) single nucleotide variant Pathogenic rs397514570 12:110028662-110028662 12:109590857-109590857
5 MVK NM_000431.4(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 12:110023903-110023903 12:109586098-109586098
6 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 12:110019245-110019245 12:109581440-109581440
7 MVK NM_000431.4(MVK): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs397514571 12:110013846-110013846 12:109576041-109576041
8 MVK NM_000431.4(MVK): c.1039+2T> C single nucleotide variant Pathogenic rs398122910 12:110032988-110032988 12:109595183-109595183
9 MVK NM_000431.4(MVK): c.1094T> C (p.Phe365Ser) single nucleotide variant Pathogenic rs398122911 12:110034285-110034285 12:109596480-109596480
10 MVK NM_000431.3(MVK): c.72dupT (p.Gly25Trpfs) duplication Pathogenic rs104895322 12:110012699-110012699 12:109574894-109574894
11 MVK NM_000431.4(MVK): c.545T> A (p.Leu182Ter) single nucleotide variant Pathogenic 12:110023844-110023844 12:109586039-109586039
12 MVK NM_000431.2(MVK): c.-1880_527+533del deletion Pathogenic 12:110009813-110019888 12:109572008-109582083
13 MVK NM_000431.4(MVK): c.1039+1G> A single nucleotide variant Pathogenic rs104895362 12:110032987-110032987 12:109595182-109595182
14 MVK NM_000431.4(MVK): c.830G> A (p.Arg277His) single nucleotide variant Pathogenic rs104895352 12:110029107-110029107 12:109591302-109591302
15 MVK NM_000431.4(MVK): c.58C> A (p.His20Asn) single nucleotide variant Pathogenic 12:110012685-110012685 12:109574880-109574880
16 MVK NM_000431.4(MVK): c.608T> C (p.Val203Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104895332 12:110023907-110023907 12:109586102-109586102
17 MVK NM_000431.4(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 12:110017726-110017726 12:109579921-109579921
18 MVK NM_000431.4(MVK): c.238G> A (p.Val80Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs76914224 12:110017618-110017618 12:109579813-109579813
19 MVK NM_000431.4(MVK): c.1139A> G (p.His380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs104895324 12:110034330-110034330 12:109596525-109596525
20 MVK NM_000431.4(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs28934897 12:110034320-110034320 12:109596515-109596515
21 MVK NM_000431.4(MVK): c.1005C> T (p.Gly335=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895357 12:110032952-110032952 12:109595147-109595147
22 MVK NM_000431.4(MVK): c.381G> A (p.Pro127=) single nucleotide variant Conflicting interpretations of pathogenicity rs140397628 12:110019209-110019209 12:109581404-109581404
23 MVK NM_000431.4(MVK): c.441C> T (p.Ala147=) single nucleotide variant Conflicting interpretations of pathogenicity rs138342076 12:110019269-110019269 12:109581464-109581464
24 MVK NM_000431.4(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 12:110032871-110032871 12:109595066-109595066
25 MVK NM_000431.4(MVK): c.226+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs145732290 12:110013954-110013954 12:109576149-109576149
26 MVK NM_000431.4(MVK): c.591C> T (p.His197=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895329 12:110023890-110023890 12:109586085-109586085
27 MVK NM_000431.4(MVK): c.780C> A (p.Ile260=) single nucleotide variant Conflicting interpretations of pathogenicity rs34975996 12:110029057-110029057 12:109591252-109591252
28 MVK NM_000431.4(MVK): c.1163G> A (p.Arg388Gln) single nucleotide variant Uncertain significance rs886048934 12:110034354-110034354 12:109596549-109596549
29 MVK NM_000431.4(MVK): c.785C> T (p.Ala262Val) single nucleotide variant Uncertain significance rs763106439 12:110029062-110029062 12:109591257-109591257
30 MVK NM_000431.4(MVK): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance rs104895342 12:110034258-110034258 12:109596453-109596453
31 MVK NM_000431.4(MVK): c.863C> T (p.Pro288Leu) single nucleotide variant Uncertain significance rs104895355 12:110029140-110029140 12:109591335-109591335
32 SART3 NM_014706.4(SART3): c.1771G> A (p.Val591Met) single nucleotide variant Uncertain significance rs118203954 12:108924063-108924063 12:108530286-108530286
33 MVK NM_000431.4(MVK): c.1096G> C (p.Asp366His) single nucleotide variant Uncertain significance 12:110034287-110034287 12:109596482-109596482
34 MVK NM_000431.4(MVK): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs373095009 12:110013843-110013843 12:109576038-109576038
35 MVK NM_000431.4(MVK): c.595A> T (p.Asn199Tyr) single nucleotide variant Uncertain significance 12:110023894-110023894 12:109586089-109586089
36 MVK NM_000431.4(MVK): c.1051C> T (p.Pro351Ser) single nucleotide variant Uncertain significance 12:110034242-110034242 12:109596437-109596437
37 MVK NM_000431.4(MVK): c.371+6_371+7dup duplication Uncertain significance
38 MVK NM_000431.4(MVK): c.961G> A (p.Val321Met) single nucleotide variant Uncertain significance 12:110032908-110032908 12:109595103-109595103
39 MVK NM_000431.4(MVK): c.937G> A (p.Ala313Thr) single nucleotide variant Uncertain significance 12:110032884-110032884 12:109595079-109595079
40 MVK NM_000431.4(MVK): c.663T> G (p.Ile221Met) single nucleotide variant Uncertain significance 12:110024590-110024590 12:109586785-109586785
41 MVK NM_000431.4(MVK): c.484G> A (p.Glu162Lys) single nucleotide variant Uncertain significance 12:110019312-110019312 12:109581507-109581507
42 MVK NM_000431.4(MVK): c.227A> G (p.Glu76Gly) single nucleotide variant Uncertain significance 12:110017607-110017607 12:109579802-109579802
43 MVK NM_000431.4(MVK): c.166A> G (p.Ile56Val) single nucleotide variant Uncertain significance 12:110013890-110013890 12:109576085-109576085
44 MVK NM_000431.4(MVK): c.1039+8G> C single nucleotide variant Likely benign rs765989100 12:110032994-110032994 12:109595189-109595189
45 MVK NM_000431.4(MVK): c.618T> A (p.Ala206=) single nucleotide variant Likely benign rs370745426 12:110023917-110023917 12:109586112-109586112
46 MVK NM_000431.4(MVK): c.864G> A (p.Pro288=) single nucleotide variant Likely benign rs149708247 12:110029141-110029141 12:109591336-109591336
47 MVK NM_000431.4(MVK): c.975C> T (p.Arg325=) single nucleotide variant Likely benign rs748947620 12:110032922-110032922 12:109595117-109595117
48 MVK NM_000431.4(MVK): c.405G> A (p.Ser135=) single nucleotide variant Benign/Likely benign rs34368092 12:110019233-110019233 12:109581428-109581428
49 MVK NM_000431.4(MVK): c.831C> T (p.Arg277=) single nucleotide variant Benign/Likely benign rs104895353 12:110029108-110029108 12:109591303-109591303
50 MVK NM_000431.4(MVK): c.769-7T> G single nucleotide variant Benign/Likely benign rs104895331 12:110029039-110029039 12:109591234-109591234

UniProtKB/Swiss-Prot genetic disease variations for Porokeratosis 3, Multiple Types:

74
# Symbol AA change Variation ID SNP ID
1 MVK p.Gly202Arg VAR_010962 rs104895301
2 MVK p.Gly12Arg VAR_075036
3 MVK p.Leu41Pro VAR_075037 rs397514571
4 MVK p.Leu255Pro VAR_075038 rs397514570
5 MVK p.Leu279Pro VAR_075039
6 MVK p.Tyr291Asp VAR_075040
7 MVK p.His312Arg VAR_075041
8 MVK p.Phe365Ser VAR_075042 rs398122911
9 MVK p.Gly376Ser VAR_075043 rs971159663

Cosmic variations for Porokeratosis 3, Multiple Types:

9 (show top 50) (show all 361)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10705 TP53 skin,face,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 4
2 COSM43544 TP53 skin,face,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
3 COSM44326 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 4
4 COSM10656 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
5 COSM45830 TP53 skin,face,carcinoma,squamous cell carcinoma c.766A>C p.T256P 17:7674197-7674197 4
6 COSM45304 TP53 skin,face,carcinoma,squamous cell carcinoma c.375+1G>A p.? 17:7675993-7675993 4
7 COSM43588 TP53 skin,face,carcinoma,squamous cell carcinoma c.740A>C p.N247T 17:7674223-7674223 4
8 COSM11081 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 4
9 COSM10733 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 4
10 COSM43651 TP53 skin,face,carcinoma,squamous cell carcinoma c.763A>T p.I255F 17:7674200-7674200 4
11 COSM43665 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 4
12 COSM10988 TP53 skin,face,carcinoma,squamous cell carcinoma c.772G>A p.E258K 17:7674191-7674191 4
13 COSM45677 TP53 skin,face,carcinoma,squamous cell carcinoma c.714T>A p.C238* 17:7674249-7674249 4
14 COSM607136 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1247C>T p.S416F 9:99146601-99146601 4
15 COSM6962965 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 4
16 COSM6962990 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 4
17 COSM6962984 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 4
18 COSM6962994 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 4
19 COSM6962992 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 4
20 COSM6962970 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 4
21 COSM456125 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 4
22 COSM1700914 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 4
23 COSM17489 PTCH1 skin,face,carcinoma,squamous cell carcinoma c.3724G>A p.E1242K 9:95449149-95449149 4
24 COSM6962989 PLCG2 skin,neck,carcinoma,squamous cell carcinoma c.115G>T p.E39* 16:81786104-81786104 4
25 COSM6962963 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.310G>A p.G104R 7:106867871-106867871 4
26 COSM6962964 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.3227G>A p.R1076K 7:106905305-106905305 4
27 COSM585 NRAS skin,face,carcinoma,squamous cell carcinoma c.183A>T p.Q61H 1:114713907-114713907 4
28 COSM564 NRAS skin,neck,carcinoma,squamous cell carcinoma c.35G>A p.G12D 1:114716126-114716126 4
29 COSM6903909 NRAS skin,face,carcinoma,squamous cell carcinoma c.443C>T p.T148I 1:114709576-114709576 4
30 COSM574 NRAS skin,face,carcinoma,squamous cell carcinoma c.38G>T p.G13V 1:114716123-114716123 4
31 COSM1667036 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 4
32 COSM6903985 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5524T>C p.S1842P 1:119919569-119919569 4
33 COSM6903873 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5141G>A p.G1714D 1:119922308-119922308 4
34 COSM6903860 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.4418G>T p.W1473L 1:119925398-119925398 4
35 COSM6903872 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5140G>A p.G1714S 1:119922309-119922309 4
36 COSM6903875 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5266G>A p.E1756K 1:119921757-119921757 4
37 COSM6903891 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5942T>C p.L1981P 1:119917750-119917750 4
38 COSM6903836 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2314T>C p.C772R 1:119953594-119953594 4
39 COSM6903876 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 4
40 COSM6903835 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2234G>A p.C745Y 1:119953674-119953674 4
41 COSM6903838 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2414T>C p.L805P 1:119950789-119950789 4
42 COSM6903841 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2602C>G p.Q868E 1:119948564-119948564 4
43 COSM6903870 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5006A>G p.E1669G 1:119922443-119922443 4
44 COSM6903823 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.1060A>G p.I354V 1:119969559-119969559 4
45 COSM6903877 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5468T>C p.V1823A 1:119920240-119920240 4
46 COSM6903986 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5524T>A p.S1842T 1:119919569-119919569 4
47 COSM6903905 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.7097C>T p.A2366V 1:119915625-119915625 4
48 COSM6903887 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5836A>G p.T1946A 1:119918499-119918499 4
49 COSM6903904 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.7085A>G p.D2362G 1:119915637-119915637 4
50 COSM6903844 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2987G>A p.C996Y 1:119940751-119940751 4

Expression for Porokeratosis 3, Multiple Types

Search GEO for disease gene expression data for Porokeratosis 3, Multiple Types.

Pathways for Porokeratosis 3, Multiple Types

GO Terms for Porokeratosis 3, Multiple Types

Sources for Porokeratosis 3, Multiple Types

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