MCID: ECL002
MIFTS: 9

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 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
eculizumab, poor response to:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615749
MedGen 41 C3810402
SNOMED-CT via HPO 68 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).

More information from OMIM: 615749

Related Diseases for Eculizumab, Poor Response to

Symptoms & Phenotypes for Eculizumab, Poor Response to

Clinical features from OMIM®:

615749 (Updated 05-Apr-2021)

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

Articles related to Eculizumab, Poor Response to:

# Title Authors PMID Year
1
Genetic variants in C5 and poor response to eculizumab. 57 6
24521109 2014

Variations for Eculizumab, Poor Response to

ClinVar genetic disease variations for Eculizumab, Poor Response to:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C5 NM_001735.2(C5):c.2654G>A (p.Arg885His) SNV Affects 127071 rs56040400 GRCh37: 9:123759961-123759961
GRCh38: 9:120997683-120997683
2 C5 NM_001735.2(C5):c.2653C>T (p.Arg885Cys) SNV Affects 127072 rs373359894 GRCh37: 9:123759962-123759962
GRCh38: 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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