MCID: THR068
MIFTS: 15

Thrombophilia Due to Protein C Deficiency, Autosomal Recessive malady

Blood diseases category

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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46OMIM, 32MalaCards
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MalaCards: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive is related to obesity and thrombophilia. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive is PROC (protein C (inactivator of coagulation factors Va and VIIIa)). The compound adp have been mentioned in the context of this disorder.

Description from OMIM:46 612304

Aliases & Classifications for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

thrombophilia due to protein c deficiency, autosomal recessive 46


Related Diseases for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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17GeneCards, 18GeneDecks
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Diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1obesity10.0PC
2thrombophilia10.0PROC

Clinical Features for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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46OMIM
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Clinical features from OMIM:

612304

Clinical synopsis from OMIM:

612304

Drugs & Therapeutics for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Search NIH Clinical Center for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Search CenterWatch for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Genetic Tests for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Anatomical Context for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Animal Models for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive or affiliated genes

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Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Genetic Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

62
id Symbol AA change Variation ID SNP ID
1PROCp.Ala178ProVAR_006660
2PROCp.Pro289LeuVAR_006679
3PROCp.Arg328HisVAR_006690
4PROCp.Gly334SerVAR_006691
5PROCp.Val367AlaVAR_006695
6PROCp.Gly418AspVAR_006703

Expression for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Search GEO for disease gene expression data for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive.

Pathways for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Compounds for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Sources:
44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp44 28 2411.1PC, PROC

GO Terms for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Products for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet