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PPR2
MCID: PHT009
MIFTS: 11

Photoparoxysmal Response 2 (PPR2)

Categories: Skin diseases
Genes Tissues Related diseases Publications
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Aliases & Classifications for Photoparoxysmal Response 2

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MalaCards integrated aliases for Photoparoxysmal Response 2:

Name: Photoparoxysmal Response 2 58 13 74
Photoparoxysmal Response with or Without Idiopathic Generalized Epilepsy 58
Ppr2 58

Classifications:

MalaCards categories:
Anatomical: Skin diseases
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External Ids:

OMIM 58 609572
UMLS 74 C1835967
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Summaries for Photoparoxysmal Response 2

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MalaCards based summary : Photoparoxysmal Response 2, also known as photoparoxysmal response with or without idiopathic generalized epilepsy, is related to photosensitive epilepsy. An important gene associated with Photoparoxysmal Response 2 is PPR2 (Photoparoxysmal Response 2). Affiliated tissues include skin.

Description from OMIM: 609572
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Related Diseases for Photoparoxysmal Response 2

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Diseases in the Photoparoxysmal Response 1 family:

Photoparoxysmal Response 2 Photoparoxysmal Response 3

Diseases related to Photoparoxysmal Response 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 photosensitive epilepsy 11.1

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Symptoms & Phenotypes for Photoparoxysmal Response 2

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Clinical features from OMIM:

609572
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Drugs & Therapeutics for Photoparoxysmal Response 2

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Search Clinical Trials , NIH Clinical Center for Photoparoxysmal Response 2

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Genetic Tests for Photoparoxysmal Response 2

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Anatomical Context for Photoparoxysmal Response 2

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MalaCards organs/tissues related to Photoparoxysmal Response 2:

42
Skin
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Publications for Photoparoxysmal Response 2

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Articles related to Photoparoxysmal Response 2:

# Title Authors Year
1
Function of the S. cerevisiae DST1/PPR2 gene in transcription elongation. ( 8422673 )
1993
2
Drosophila RNA polymerase II elongation factor DmS-II has homology to mouse S-II and sequence similarity to yeast PPR2. ( 2243775 )
1990
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Variations for Photoparoxysmal Response 2

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Expression for Photoparoxysmal Response 2

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Search GEO for disease gene expression data for Photoparoxysmal Response 2.
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Pathways for Photoparoxysmal Response 2

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GO Terms for Photoparoxysmal Response 2

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Sources for Photoparoxysmal Response 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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