POROK3
MCID: PRK080
MIFTS: 32

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 56 73
Porokeratosis 3, Disseminated Superficial Actinic Type 73 29 6
Porokeratosis, Disseminated Superficial Actinic, 1 56 73 71
Dsap1 56 52 73
Porok3 56 73
Porokeratosis, Disseminated Superficial Actinic, 1; Dsap1 56
Porokeratosis, Disseminated Superficial Actinic 1 52
Disseminated Superficial Actinic Porokeratosis 1 73
Porokeratosis, Type 3, Multiple Types 39

Characteristics:

OMIM:

56
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:

31
porokeratosis 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 175900
OMIM Phenotypic Series 56 PS175800
MeSH 43 D017499
MedGen 41 C1867981
UMLS 71 C1867981

Summaries for Porokeratosis 3, Multiple Types

OMIM : 56 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 3, disseminated superficial actinic type, 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 porokeratosis

UniProtKB/Swiss-Prot : 73 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 11.8
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:

31
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 occasional (7.5%) HP:0008404
2 porokeratosis 31 HP:0200044
3 parakeratosis 31 HP:0001036

Symptoms via clinical synopsis from OMIM:

56
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 3, Disseminated Superficial Actinic Type 29 MVK

Anatomical Context for Porokeratosis 3, Multiple Types

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

40
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. 61 6 56
15149516 2004
2
Genomic variations of the mevalonate pathway in porokeratosis. 56 6
26202976 2015
3
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. 56 6
24781643 2014
4
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 6 56
22983302 2012
5
Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned. 6 56
17392836 2007
6
A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis. 56 6
15840095 2005
7
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis. 6
24794831 2014
8
Identification of a locus (DSP2) for disseminated superficial porokeratosis at chromosome 12q21.2-24.21. 56
22680787 2012
9
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association? 56
17621637 2007
10
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. 6
16835861 2006
11
Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. 56
15459975 2004
12
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. 6
11313769 2001
13
Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. 56
10844547 2000
14
Porokeratosis of Mibelli. Overview and review of the literature. 56
9188872 1997
15
Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis. 56
2063934 1991
16
Linear porokeratosis in two families with disseminated superficial actinic porokeratosis. 56
3321004 1987
17
Porokeratosis. Two morphologic forms within a family. 56
7212751 1981
18
Disseminated superficial actinic porokeratosis. Analysis of an affected family. 56
974029 1976
19
Linear porokeratosis. A distinctive clinical variant of porokeratosis of Mibelli. 56
4819108 1974
20
Linear porokeratosis in a family with DSAP. 56
5048228 1972
21
Disseminated superficial actinic porokeratosis. Clinical studies and experimental production of lesions. 56
5769325 1969
22
Disseminated superficial actinic porokeratosis. Genetic aspects. 56
5769326 1969
23
Disseminated superficial actinic porokeratosis (DSAP). 56
4864722 1967
24
Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. 61
18443824 2008
25
[Refinement of DSAP1 locus and mutation detection for candidate genes]. 61
16078733 2005

Variations for Porokeratosis 3, Multiple Types

ClinVar genetic disease variations for Porokeratosis 3, Multiple Types:

6 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MVK NM_000431.4(MVK):c.545T>A (p.Leu182Ter)SNV Pathogenic 573681 rs1566147222 12:110023844-110023844 12:109586039-109586039
2 MVK NM_000431.4(MVK):c.58C>A (p.His20Asn)SNV Pathogenic 649235 12:110012685-110012685 12:109574880-109574880
3 MVK NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)SNV Pathogenic 11930 rs104895317 12:110032947-110032947 12:109595142-109595142
4 MVK NM_000431.4(MVK):c.803T>C (p.Ile268Thr)SNV Pathogenic 11932 rs104895304 12:110029080-110029080 12:109591275-109591275
5 MVK NM_000431.4(MVK):c.928G>A (p.Val310Met)SNV Pathogenic 11934 rs104895319 12:110032875-110032875 12:109595070-109595070
6 MVK NM_000431.4(MVK):c.764T>C (p.Leu255Pro)SNV Pathogenic 39724 rs397514570 12:110028662-110028662 12:109590857-109590857
7 MVK NM_000431.4(MVK):c.604G>A (p.Gly202Arg)SNV Pathogenic 39726 rs104895301 12:110023903-110023903 12:109586098-109586098
8 MVK NM_000431.3(MVK):c.417dupC (p.Gly140Argfs)duplication Pathogenic 39727 rs104895373 12:110019239-110019240 12:109581434-109581435
9 MVK NM_000431.4(MVK):c.122T>C (p.Leu41Pro)SNV Pathogenic 39728 rs397514571 12:110013846-110013846 12:109576041-109576041
10 MVK NM_000431.4(MVK):c.1039+2T>CSNV Pathogenic 39729 rs398122910 12:110032988-110032988 12:109595183-109595183
11 MVK NM_000431.4(MVK):c.1094T>C (p.Phe365Ser)SNV Pathogenic 39730 rs398122911 12:110034285-110034285 12:109596480-109596480
12 MVK NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs)duplication Pathogenic 88836 rs104895322 12:110012698-110012699 12:109574893-109574894
13 MVK NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)SNV Pathogenic 97572 rs104895360 12:110034353-110034353 12:109596548-109596548
14 MVK NM_000431.4(MVK):c.830G>A (p.Arg277His)SNV Pathogenic 97631 rs104895352 12:110029107-110029107 12:109591302-109591302
15 MVK NM_000431.4(MVK):c.1039+1G>ASNV Pathogenic 217749 rs104895362 12:110032987-110032987 12:109595182-109595182
16 MVK NM_000431.2(MVK):c.-1880_527+533deldeletion Pathogenic 217750 12:110009813-110019888 12:109572008-109582083
17 MVK NM_000431.4(MVK):c.608T>C (p.Val203Ala)SNV Pathogenic/Likely pathogenic 97601 rs104895332 12:110023907-110023907 12:109586102-109586102
18 MVK NM_000431.4(MVK):c.346T>C (p.Tyr116His)SNV Pathogenic/Likely pathogenic 97581 rs104895382 12:110017726-110017726 12:109579921-109579921
19 MVK NM_000431.4(MVK):c.987C>G (p.Ser329Arg)SNV Likely pathogenic 848443 12:110032934-110032934 12:109595129-109595129
20 MVK NM_000431.4(MVK):c.527+10G>ASNV Conflicting interpretations of pathogenicity 791747 12:110019365-110019365 12:109581560-109581560
21 MVK NM_000431.4(MVK):c.238G>A (p.Val80Ile)SNV Conflicting interpretations of pathogenicity 97578 rs76914224 12:110017618-110017618 12:109579813-109579813
22 MVK NM_000431.4(MVK):c.1139A>G (p.His380Arg)SNV Conflicting interpretations of pathogenicity 97569 rs104895324 12:110034330-110034330 12:109596525-109596525
23 MVK NM_000431.4(MVK):c.1129G>A (p.Val377Ile)SNV Conflicting interpretations of pathogenicity 11929 rs28934897 12:110034320-110034320 12:109596515-109596515
24 MVK NM_000431.4(MVK):c.591C>T (p.His197=)SNV Conflicting interpretations of pathogenicity 97599 rs104895329 12:110023890-110023890 12:109586085-109586085
25 MVK NM_000431.4(MVK):c.226+4A>GSNV Conflicting interpretations of pathogenicity 234378 rs145732290 12:110013954-110013954 12:109576149-109576149
26 MVK NM_000431.4(MVK):c.441C>T (p.Ala147=)SNV Conflicting interpretations of pathogenicity 138314 rs138342076 12:110019269-110019269 12:109581464-109581464
27 MVK NM_000431.4(MVK):c.924C>T (p.Leu308=)SNV Conflicting interpretations of pathogenicity 193585 rs72648042 12:110032871-110032871 12:109595066-109595066
28 MVK NM_000431.4(MVK):c.876C>T (p.Leu292=)SNV Conflicting interpretations of pathogenicity 246330 rs370301290 12:110029153-110029153 12:109591348-109591348
29 MVK NM_000431.4(MVK):c.1005C>T (p.Gly335=)SNV Conflicting interpretations of pathogenicity 97560 rs104895357 12:110032952-110032952 12:109595147-109595147
30 MVK NM_000431.4(MVK):c.1067C>T (p.Thr356Met)SNV Uncertain significance 97564 rs104895342 12:110034258-110034258 12:109596453-109596453
31 MVK NM_000431.4(MVK):c.187G>A (p.Asp63Asn)SNV Uncertain significance 861832 12:110013911-110013911 12:109576106-109576106
32 MVK NM_000431.4(MVK):c.298G>A (p.Asp100Asn)SNV Uncertain significance 863857 12:110017678-110017678 12:109579873-109579873
33 MVK NM_000431.4(MVK):c.361C>T (p.Arg121Trp)SNV Uncertain significance 837299 12:110017741-110017741 12:109579936-109579936
34 MVK NM_000431.4(MVK):c.520G>A (p.Val174Ile)SNV Uncertain significance 855436 12:110019348-110019348 12:109581543-109581543
35 MVK NM_000431.4(MVK):c.724A>G (p.Asn242Asp)SNV Uncertain significance 852674 12:110028622-110028622 12:109590817-109590817
36 MVK NM_000431.4(MVK):c.755A>G (p.Asn252Ser)SNV Uncertain significance 862618 12:110028653-110028653 12:109590848-109590848
37 MVK NM_000431.4(MVK):c.775G>A (p.Glu259Lys)SNV Uncertain significance 854659 12:110029052-110029052 12:109591247-109591247
38 MVK NM_000431.4(MVK):c.870G>T (p.Gln290His)SNV Uncertain significance 853846 12:110029147-110029147 12:109591342-109591342
39 MVK NM_000431.4(MVK):c.166A>G (p.Ile56Val)SNV Uncertain significance 664958 12:110013890-110013890 12:109576085-109576085
40 MVK NM_000431.4(MVK):c.227A>G (p.Glu76Gly)SNV Uncertain significance 642096 12:110017607-110017607 12:109579802-109579802
41 MVK NM_000431.4(MVK):c.484G>A (p.Glu162Lys)SNV Uncertain significance 666070 12:110019312-110019312 12:109581507-109581507
42 MVK NM_000431.4(MVK):c.663T>G (p.Ile221Met)SNV Uncertain significance 639662 12:110024590-110024590 12:109586785-109586785
43 MVK NM_000431.4(MVK):c.937G>A (p.Ala313Thr)SNV Uncertain significance 645386 12:110032884-110032884 12:109595079-109595079
44 MVK NM_000431.4(MVK):c.961G>A (p.Val321Met)SNV Uncertain significance 654807 12:110032908-110032908 12:109595103-109595103
45 MVK NM_000431.4(MVK):c.371+1GT[4]short repeat Uncertain significance 641952 12:110017751-110017752 12:109579946-109579947
46 MVK NM_000431.4(MVK):c.1096G>C (p.Asp366His)SNV Uncertain significance 571539 rs1566153793 12:110034287-110034287 12:109596482-109596482
47 MVK NM_000431.4(MVK):c.119G>A (p.Arg40Gln)SNV Uncertain significance 579239 rs373095009 12:110013843-110013843 12:109576038-109576038
48 MVK NM_000431.4(MVK):c.595A>T (p.Asn199Tyr)SNV Uncertain significance 579561 rs1566147301 12:110023894-110023894 12:109586089-109586089
49 MVK NM_000431.4(MVK):c.1051C>T (p.Pro351Ser)SNV Uncertain significance 578204 rs773929129 12:110034242-110034242 12:109596437-109596437
50 MVK NM_000431.4(MVK):c.874C>T (p.Leu292Phe)SNV Uncertain significance 636630 12:110029151-110029151 12:109591346-109591346

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

73
# 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 1402)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87910628 TP53 skin,face,carcinoma,squamous cell carcinoma c.772G>A p.E258K 17:7674191-7674191 4
2 COSM87910495 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
3 COSM87905569 TP53 skin,face,carcinoma,squamous cell carcinoma c.740A>C p.N247T 17:7674223-7674223 4
4 COSM87899145 TP53 skin,face,carcinoma,squamous cell carcinoma c.763A>T p.I255F 17:7674200-7674200 4
5 COSM87899377 TP53 skin,face,carcinoma,squamous cell carcinoma c.375+1G>A p.? 17:7675993-7675993 4
6 COSM87897627 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 4
7 COSM87917387 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 4
8 COSM87970671 TP53 skin,face,carcinoma,squamous cell carcinoma c.766A>C p.T256P 17:7674197-7674197 4
9 COSM87906137 TP53 skin,face,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
10 COSM87899887 TP53 skin,face,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 4
11 COSM87991360 TP53 skin,face,carcinoma,squamous cell carcinoma c.714T>A p.C238* 17:7674249-7674249 4
12 COSM87961289 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 4
13 COSM87898351 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 4
14 COSM87898463 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 4
15 COSM135128838 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1259C>T p.S420F 9:99146601-99146601 4
16 COSM84678061 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 4
17 COSM86828717 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 4
18 COSM94496058 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 4
19 COSM97061657 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 4
20 COSM97061670 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 4
21 COSM101904169 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 4
22 COSM101917565 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 4
23 COSM101909541 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 4
24 COSM90829299 PTCH1 skin,face,carcinoma,squamous cell carcinoma c.3724G>A p.E1242K 9:95449149-95449149 4
25 COSM135344063 PLCG2 skin,neck,carcinoma,squamous cell carcinoma c.115G>T p.E39* 16:81786104-81786104 4
26 COSM96446251 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.310G>A p.G104R 7:106867871-106867871 4
27 COSM96446257 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.3227G>A p.R1076K 7:106905305-106905305 4
28 COSM97108079 NRAS skin,face,carcinoma,squamous cell carcinoma c.183A>T p.Q61H 1:114713907-114713907 4
29 COSM97110803 NRAS skin,face,carcinoma,squamous cell carcinoma c.443C>T p.T148I 1:114709576-114709576 4
30 COSM97107717 NRAS skin,face,carcinoma,squamous cell carcinoma c.38G>T p.G13V 1:114716123-114716123 4
31 COSM88407030 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5836A>G p.T1946A 1:119918499-119918499 4
32 COSM88396973 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 4
33 COSM88388711 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 4
34 COSM88409975 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5524T>C p.S1842P 1:119919569-119919569 4
35 COSM88399925 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.7097C>T p.A2366V 1:119915625-119915625 4
36 COSM88404240 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5141G>A p.G1714D 1:119922308-119922308 4
37 COSM88389161 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2987G>A p.C996Y 1:119940751-119940751 4
38 COSM88409965 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5524T>A p.S1842T 1:119919569-119919569 4
39 COSM88409980 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.1060A>G p.I354V 1:119969559-119969559 4
40 COSM88404245 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5140G>A p.G1714S 1:119922309-119922309 4
41 COSM88394293 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2414T>C p.L805P 1:119950789-119950789 4
42 COSM88394286 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5266G>A p.E1756K 1:119921757-119921757 4
43 COSM88402034 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5006A>G p.E1669G 1:119922443-119922443 4
44 COSM88393640 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5942T>C p.L1981P 1:119917750-119917750 4
45 COSM88393645 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2602C>G p.Q868E 1:119948564-119948564 4
46 COSM88404251 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2314T>C p.C772R 1:119953594-119953594 4
47 COSM88402024 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5468T>C p.V1823A 1:119920240-119920240 4
48 COSM88407035 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2234G>A p.C745Y 1:119953674-119953674 4
49 COSM88391118 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.4418G>T p.W1473L 1:119925398-119925398 4
50 COSM88404236 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.7085A>G p.D2362G 1:119915637-119915637 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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