MCID: BLD054
MIFTS: 37

Blood Protein Disease

Categories: Blood diseases

Aliases & Classifications for Blood Protein Disease

MalaCards integrated aliases for Blood Protein Disease:

Name: Blood Protein Disease 12 15 73
Blood Protein Disorders 44 73
Blood Protein Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:620
MeSH 44 D001796

Summaries for Blood Protein Disease

MalaCards based summary : Blood Protein Disease, also known as blood protein disorders, is related to sickle cell anemia and alpha-2-plasmin inhibitor deficiency. An important gene associated with Blood Protein Disease is SERPINC1 (Serpin Family C Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include bone, liver and heart, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

Wikipedia : 76 Blood proteins, also termed plasma proteins, are proteins present in blood plasma. They serve many... more...

Related Diseases for Blood Protein Disease

Diseases related to Blood Protein Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 sickle cell anemia 30.3 BCL11A F2 HBB HBG1 HBG2 HBS1L
2 alpha-2-plasmin inhibitor deficiency 10.3 F2 SERPINC1
3 intracranial embolism 10.3 F2 SERPINC1
4 vitamin k deficiency hemorrhagic disease 10.2 F2 PROS1
5 subendocardial myocardial infarction 10.2 F2 SERPINC1
6 sneddon syndrome 10.2 F2 SERPINC1
7 mesenteric vascular occlusion 10.2 F2 MTHFR
8 testicular infarct 10.2 HBB MTHFR
9 ischemic neuropathy 10.2 F2 MTHFR
10 esophageal varix 10.2 F2 SERPINC1
11 anterior spinal artery syndrome 10.2 F2 SERPINC1
12 hemoglobin lepore-beta-thalassemia syndrome 10.2 HBB HBD
13 hemoglobin d disease 10.2 HBB HBD
14 hypersplenism 10.2 F2 SERPINC1
15 erythroleukemia, familial 10.2 HBB HBG1
16 paracetamol poisoning 10.2 F2 F5
17 sticky platelet syndrome 10.2 F5 SERPINC1
18 eclampsia 10.2 F2 MTHFR SERPINC1
19 malignant secondary hypertension 10.2 HBB HBD
20 livedoid vasculitis 10.2 F2 MTHFR SERPINC1
21 neonatal stroke 10.2 MTHFR PROC
22 osgood-schlatter's disease 10.2 HBB HBD
23 osteonecrosis 10.1 F2 MTHFR SERPINC1
24 glucosephosphate dehydrogenase deficiency 10.1 HBB HBG2
25 kluver-bucy syndrome 10.1 HBB HBD
26 inferior vena cava interruption 10.1 F5 MTHFR
27 amaurosis fugax 10.1 F5 MTHFR
28 malignant essential hypertension 10.1 HBB HBD
29 factor viii deficiency 10.1 F2 F5
30 buerger disease 10.1 F2 MTHFR
31 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.1 HBB HBG1 HBG2
32 pleuropneumonia 10.1 HBB HBD SERPINC1
33 prothrombin deficiency, congenital 10.1 F2 F5 SERPINC1
34 ischemic colitis 10.1 F2 F5 SERPINC1
35 post-thrombotic syndrome 10.1 F2 F5 SERPINC1
36 blind loop syndrome 10.1 HBB HBD
37 dysfibrinogenemia 10.1 F2 F5 SERPINC1
38 prothrombin deficiency 10.1 F2 F3
39 hemoglobin c disease 10.1 HBB HBD MTHFR
40 alpha-thalassemia 10.1 HBB HBG1 HBG2
41 arteritic anterior ischemic optic neuropathy 10.1 F2 F5 MTHFR
42 hemophilia 10.1 F2 F3
43 sudden sensorineural hearing loss 10.1 F2 F5 MTHFR
44 cryptogenic cirrhosis 10.1 F2 F5 MTHFR
45 porencephaly 10.1 F2 F5 MTHFR
46 heparin-induced thrombocytopenia 10.1 F3 SERPINC1
47 gastroschisis 10.0 F2 F5 MTHFR
48 cerebral falx meningioma 10.0 F2 F3
49 homocystinuria 10.0 F5 MTHFR SERPINC1
50 hemoglobinopathy 10.0 HBB HBD HBG1

Graphical network of the top 20 diseases related to Blood Protein Disease:



Diseases related to Blood Protein Disease

Symptoms & Phenotypes for Blood Protein Disease

GenomeRNAi Phenotypes related to Blood Protein Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 F5 HBD HBG2 MTHFR

MGI Mouse Phenotypes related to Blood Protein Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 BCL11A C4B F2 F3 F5 HBS1L
2 liver/biliary system MP:0005370 9.1 C4B F5 MTHFR PROC PROS1 SERPINC1

Drugs & Therapeutics for Blood Protein Disease

Search Clinical Trials , NIH Clinical Center for Blood Protein Disease

Cochrane evidence based reviews: blood protein disorders

Genetic Tests for Blood Protein Disease

Anatomical Context for Blood Protein Disease

MalaCards organs/tissues related to Blood Protein Disease:

41
Bone, Liver, Heart, Spinal Cord, Placenta

Publications for Blood Protein Disease

Variations for Blood Protein Disease

Expression for Blood Protein Disease

Search GEO for disease gene expression data for Blood Protein Disease.

Pathways for Blood Protein Disease

Pathways related to Blood Protein Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 F2 F3 F5 HBB HBD HBG1
2
Show member pathways
12.52 F2 F3 F5 PROC PROS1 SERPINC1
3 11.87 HBB HBD HBG1 HBG2
4
Show member pathways
11.86 F2 PROC PROS1
5
Show member pathways
11.83 F2 F3 F5 PROC PROS1 SERPINC1
6
Show member pathways
11.61 F2 PROC PROS1
7 11.31 C4B F2 F3 F5 PROC PROS1
8 10.61 F2 PROC PROS1

GO Terms for Blood Protein Disease

Cellular components related to Blood Protein Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.92 C4B F2 F3 F5 HBB PROC
2 extracellular space GO:0005615 9.86 C4B F2 F3 F5 HBB PROC
3 endoplasmic reticulum lumen GO:0005788 9.67 F2 F5 PROC SERPINC1
4 Golgi lumen GO:0005796 9.58 F2 PROC PROS1
5 hemoglobin complex GO:0005833 9.46 HBB HBD HBG1 HBG2
6 haptoglobin-hemoglobin complex GO:0031838 9.26 HBB HBD HBG1 HBG2
7 blood microparticle GO:0072562 9.17 C4B F2 HBB HBD HBG2 PROS1

Biological processes related to Blood Protein Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.73 F2 F5 PROC SERPINC1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.71 F2 F5 PROC PROS1
3 negative regulation of endopeptidase activity GO:0010951 9.7 C4B PROS1 SERPINC1
4 regulation of complement activation GO:0030449 9.67 C4B F2 PROS1
5 cellular oxidant detoxification GO:0098869 9.67 HBB HBD HBG1 HBG2
6 protein heterooligomerization GO:0051291 9.62 HBB HBD HBG1 HBG2
7 hydrogen peroxide catabolic process GO:0042744 9.56 HBB HBD HBG1 HBG2
8 fibrinolysis GO:0042730 9.51 F2 PROS1
9 negative regulation of blood coagulation GO:0030195 9.48 PROC PROS1
10 regulation of blood coagulation GO:0030193 9.46 F2 SERPINC1
11 oxygen transport GO:0015671 9.46 HBB HBD HBG1 HBG2
12 hemostasis GO:0007599 9.43 F2 F3 F5 PROC PROS1 SERPINC1
13 blood coagulation GO:0007596 9.32 F2 F3 F5 HBB HBD HBG1

Molecular functions related to Blood Protein Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.73 C4B F2 F3 PROC
2 heme binding GO:0020037 9.67 HBB HBD HBG1 HBG2
3 oxygen binding GO:0019825 9.62 HBB HBD HBG1 HBG2
4 peroxidase activity GO:0004601 9.56 HBB HBD HBG1 HBG2
5 oxygen carrier activity GO:0005344 9.46 HBB HBD HBG1 HBG2
6 hemoglobin alpha binding GO:0031721 9.4 HBB HBD
7 organic acid binding GO:0043177 9.26 HBB HBD HBG1 HBG2
8 haptoglobin binding GO:0031720 8.92 HBB HBD HBG1 HBG2

Sources for Blood Protein Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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