MCID: ECL002
MIFTS: 6

Eculizumab, Poor Response to

Categories: Genetic diseases

Aliases & Classifications for Eculizumab, Poor Response to

MalaCards integrated aliases for Eculizumab, Poor Response to:

Name: Eculizumab, Poor Response to 57 29 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
poor response to the c5 inhibitor eculizumab
only apparent in patients taking eculizumab
prevalent among patients of asian descent, particularly japanese


HPO:

32
eculizumab, poor response to:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615749
MedGen 42 C3810402
SNOMED-CT via HPO 69 263681008

Summaries for Eculizumab, Poor Response to

MalaCards based summary : Eculizumab, Poor Response to An important gene associated with Eculizumab, Poor Response to is C5 (Complement C5).

Description from OMIM: 615749

Related Diseases for Eculizumab, Poor Response to

Symptoms & Phenotypes for Eculizumab, Poor Response to

Clinical features from OMIM:

615749

Drugs & Therapeutics for Eculizumab, Poor Response to

Search Clinical Trials , NIH Clinical Center for Eculizumab, Poor Response to

Genetic Tests for Eculizumab, Poor Response to

Genetic tests related to Eculizumab, Poor Response to:

# Genetic test Affiliating Genes
1 Eculizumab, Poor Response to 29 C5

Anatomical Context for Eculizumab, Poor Response to

Publications for Eculizumab, Poor Response to

Variations for Eculizumab, Poor Response to

ClinVar genetic disease variations for Eculizumab, Poor Response to:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C5 NM_001735.2(C5): c.2654G> A (p.Arg885His) single nucleotide variant Affects rs56040400 GRCh37 Chromosome 9, 123759961: 123759961
2 C5 NM_001735.2(C5): c.2654G> A (p.Arg885His) single nucleotide variant Affects rs56040400 GRCh38 Chromosome 9, 120997683: 120997683
3 C5 NM_001735.2(C5): c.2653C> T (p.Arg885Cys) single nucleotide variant Affects rs373359894 GRCh37 Chromosome 9, 123759962: 123759962
4 C5 NM_001735.2(C5): c.2653C> T (p.Arg885Cys) single nucleotide variant Affects rs373359894 GRCh38 Chromosome 9, 120997684: 120997684

Expression for Eculizumab, Poor Response to

Search GEO for disease gene expression data for Eculizumab, Poor Response to.

Pathways for Eculizumab, Poor Response to

GO Terms for Eculizumab, Poor Response to

Sources for Eculizumab, Poor Response to

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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