MCID: ECL002
MIFTS: 7

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 58 30 6 41

Characteristics:

OMIM:

58
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:

33
eculizumab, poor response to:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615749
MedGen 43 C3810402
SNOMED-CT via HPO 70 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 30 C5

Anatomical Context for Eculizumab, Poor Response to

Publications for Eculizumab, Poor Response to

Articles related to Eculizumab, Poor Response to:

# Title Authors Year
1
Genetic variants in C5 and poor response to eculizumab. ( 24521109 )
2014

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 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
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