MCID: PRT104
MIFTS: 9

Protein S Acquired Deficiency

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Protein S Acquired Deficiency

MalaCards integrated aliases for Protein S Acquired Deficiency:

Name: Protein S Acquired Deficiency 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D68.8
UMLS via Orphanet 72 C2363755
Orphanet 58 ORPHA26349

Summaries for Protein S Acquired Deficiency

MalaCards based summary : Protein S Acquired Deficiency An important gene associated with Protein S Acquired Deficiency is PROS1 (Protein S).

Related Diseases for Protein S Acquired Deficiency

Symptoms & Phenotypes for Protein S Acquired Deficiency

Drugs & Therapeutics for Protein S Acquired Deficiency

Search Clinical Trials , NIH Clinical Center for Protein S Acquired Deficiency

Genetic Tests for Protein S Acquired Deficiency

Anatomical Context for Protein S Acquired Deficiency

Publications for Protein S Acquired Deficiency

Variations for Protein S Acquired Deficiency

ClinVar genetic disease variations for Protein S Acquired Deficiency:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROS1 NM_000313.3(PROS1):c.773A>G (p.Asn258Ser)SNV Pathogenic 13317 rs121918473 3:93617368-93617368 3:93898524-93898524
2 PROS1 NM_000313.3(PROS1):c.586A>G (p.Lys196Glu)SNV Pathogenic 13318 rs121918474 3:93624643-93624643 3:93905799-93905799
3 PROS1 PROS1, IVS10DS, G-A, +5SNV Pathogenic 13319
4 PROS1 NM_000313.3(PROS1):c.2031A>T (p.Ter677Tyr)SNV Pathogenic 13320 rs267606981 3:93593089-93593089 3:93874245-93874245
5 PROS1 PROS1, IVS11AS, A-G, -9SNV Pathogenic 13321
6 PROS1 NM_000313.3(PROS1):c.835C>T (p.Gln279Ter)SNV Pathogenic 13322 rs121918475 3:93617306-93617306 3:93898462-93898462
7 PROS1 NM_000313.3(PROS1):c.1063C>T (p.Arg355Cys)SNV Pathogenic 29846 rs387906674 3:93611869-93611869 3:93893025-93893025
8 PROS1 NM_000313.4(PROS1):c.728-1G>ASNV Likely pathogenic 162509 rs368074804 3:93617414-93617414 3:93898570-93898570
9 PROS1 NM_000313.4(PROS1):c.766T>A (p.Cys256Ser)SNV Likely pathogenic 812150 3:93617375-93617375 3:93898531-93898531
10 PROS1 NM_000313.3(PROS1):c.227C>T (p.Pro76Leu)SNV Conflicting interpretations of pathogenicity 540211 rs73846070 3:93646101-93646101 3:93927257-93927257
11 PROS1 NM_000313.3(PROS1):c.76+7A>GSNV Conflicting interpretations of pathogenicity 215729 rs201928951 3:93692511-93692511 3:93973667-93973667
12 PROS1 NM_000313.3(PROS1):c.284G>A (p.Gly95Glu)SNV Conflicting interpretations of pathogenicity 161354 rs144526169 3:93629525-93629525 3:93910681-93910681
13 PROS1 NM_000313.3(PROS1):c.1377A>G (p.Gly459=)SNV Conflicting interpretations of pathogenicity 346882 rs371312357 3:93603687-93603687 3:93884843-93884843
14 PROS1 NM_000313.3(PROS1):c.1501T>C (p.Ser501Pro)SNV Conflicting interpretations of pathogenicity 13316 rs121918472 3:93598150-93598150 3:93879306-93879306
15 PROS1 NM_000313.3(PROS1):c.1762A>G (p.Thr588Ala)SNV Conflicting interpretations of pathogenicity 161344 rs142846443 3:93595918-93595918 3:93877074-93877074
16 PROS1 NM_000313.3(PROS1):c.1095T>G (p.Asn365Lys)SNV Conflicting interpretations of pathogenicity 161352 rs199469491 3:93611837-93611837 3:93892993-93892993
17 PROS1 NM_000313.3(PROS1):c.698G>A (p.Arg233Lys)SNV Conflicting interpretations of pathogenicity 161346 rs41267007 3:93619677-93619677 3:93900833-93900833
18 PROS1 NM_000313.3(PROS1):c.119G>T (p.Arg40Leu)SNV Conflicting interpretations of pathogenicity 346893 rs7614835 3:93646209-93646209 3:93927365-93927365
19 PROS1 NM_000313.3(PROS1):c.585T>C (p.Asn195=)SNV Conflicting interpretations of pathogenicity 346890 rs372109285 3:93624644-93624644 3:93905800-93905800
20 PROS1 NM_000313.3(PROS1):c.1021G>A (p.Ala341Thr)SNV Conflicting interpretations of pathogenicity 346885 rs189883848 3:93611911-93611911 3:93893067-93893067
21 PROS1 NM_000313.3(PROS1):c.710A>C (p.Lys237Thr)SNV Uncertain significance 346887 rs558211174 3:93619665-93619665 3:93900821-93900821
22 PROS1 NM_000313.3(PROS1):c.503A>G (p.Asn168Ser)SNV Uncertain significance 346891 rs144430063 3:93624726-93624726 3:93905882-93905882
23 PROS1 NM_000313.3(PROS1):c.111T>C (p.Val37=)SNV Uncertain significance 346894 rs886058928 3:93646217-93646217 3:93927373-93927373
24 PROS1 NM_000313.3(PROS1):c.-261C>TSNV Uncertain significance 346900 rs886058930 3:93692854-93692854 3:93974010-93974010
25 PROS1 NM_000313.3(PROS1):c.*119T>CSNV Uncertain significance 346878 rs886058924 3:93592970-93592970 3:93874126-93874126
26 PROS1 NM_000313.3(PROS1):c.2003C>T (p.Ser668Leu)SNV Uncertain significance 346880 rs886058926 3:93593117-93593117 3:93874273-93874273
27 PROS1 NM_000313.3(PROS1):c.1323+8T>GSNV Uncertain significance 346883 rs778473220 3:93605172-93605172 3:93886328-93886328
28 PROS1 NM_000313.3(PROS1):c.-43G>ASNV Uncertain significance 346895 rs370938580 3:93692636-93692636 3:93973792-93973792
29 PROS1 NM_000313.3(PROS1):c.*714T>CSNV Uncertain significance 346868 rs886058923 3:93592375-93592375 3:93873531-93873531
30 PROS1 NM_000313.3(PROS1):c.*370G>ASNV Uncertain significance 346873 rs144135580 3:93592719-93592719 3:93873875-93873875
31 PROS1 NM_000313.3(PROS1):c.*221deldeletion Uncertain significance 346875 rs776969264 3:93592868-93592868 3:93874024-93874024
32 PROS1 NM_000313.3(PROS1):c.*86T>CSNV Uncertain significance 346879 rs886058925 3:93593003-93593003 3:93874159-93874159
33 PROS1 NM_000313.3(PROS1):c.805G>A (p.Gly269Arg)SNV Uncertain significance 346886 rs886058927 3:93617336-93617336 3:93898492-93898492
34 PROS1 NM_000313.3(PROS1):c.234G>A (p.Thr78=)SNV Uncertain significance 346892 rs145399944 3:93646094-93646094 3:93927250-93927250
35 PROS1 NM_000313.3(PROS1):c.-60G>CSNV Uncertain significance 346896 rs368555701 3:93692653-93692653 3:93973809-93973809
36 PROS1 NM_000313.3(PROS1):c.676T>A (p.Cys226Ser)SNV Uncertain significance 161353 rs370855515 3:93619699-93619699 3:93900855-93900855
37 PROS1 NM_000313.3(PROS1):c.431C>A (p.Thr144Asn)SNV Uncertain significance 161347 rs146366248 3:93624903-93624903 3:93906059-93906059
38 PROS1 NM_000313.3(PROS1):c.946C>T (p.Arg316Cys)SNV Uncertain significance 161345 rs373983977 3:93615439-93615439 3:93896595-93896595
39 PROS1 NM_000313.3(PROS1):c.1747A>C (p.Asn583His)SNV Uncertain significance 161349 rs139479630 3:93595933-93595933 3:93877089-93877089
40 PROS1 NM_000313.3(PROS1):c.1594A>G (p.Thr532Ala)SNV Uncertain significance 161350 rs371028997 3:93598057-93598057 3:93879213-93879213
41 PROS1 NM_000313.4(PROS1):c.1871-14T>GSNV Uncertain significance 801989 3:93593263-93593263 3:93874419-93874419
42 PROS1 NM_000313.3(PROS1):c.1907A>G (p.Tyr636Cys)SNV Uncertain significance 161348 rs368173480 3:93593213-93593213 3:93874369-93874369
43 PROS1 NM_000313.3(PROS1):c.1681C>G (p.Arg561Gly)SNV Uncertain significance 13323 rs121918476 3:93595999-93595999 3:93877155-93877155
44 PROS1 NM_000313.3(PROS1):c.684C>T (p.Cys228=)SNV Uncertain significance 346888 rs377173471 3:93619691-93619691 3:93900847-93900847
45 PROS1 NM_000313.3(PROS1):c.601+12A>GSNV Uncertain significance 346889 rs753550053 3:93624616-93624616 3:93905772-93905772
46 PROS1 NM_000313.3(PROS1):c.-116C>TSNV Uncertain significance 346898 rs886058929 3:93692709-93692709 3:93973865-93973865
47 PROS1 NM_000313.3(PROS1):c.-135C>TSNV Uncertain significance 346899 rs750502941 3:93692728-93692728 3:93973884-93973884
48 PROS1 NM_000313.3(PROS1):c.*1167_*1170deldeletion Uncertain significance 346865 rs886058921 3:93591919-93591922 3:93873075-93873078
49 PROS1 NM_000313.3(PROS1):c.*1139C>ASNV Uncertain significance 346866 rs886058922 3:93591950-93591950 3:93873106-93873106
50 PROS1 NM_000313.3(PROS1):c.*783C>TSNV Uncertain significance 346867 rs137965257 3:93592306-93592306 3:93873462-93873462

Expression for Protein S Acquired Deficiency

Search GEO for disease gene expression data for Protein S Acquired Deficiency.

Pathways for Protein S Acquired Deficiency

GO Terms for Protein S Acquired Deficiency

Sources for Protein S Acquired Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
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43 MeSH
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53 NINDS
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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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