Aliases & Classifications for Omphalocele, X-Linked

MalaCards integrated aliases for Omphalocele, X-Linked:

Name: Omphalocele, X-Linked 58

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
omphalocele, x-linked:
Inheritance x-linked inheritance


External Ids:

OMIM 58 310980
MedGen 43 C3275625
SNOMED-CT via HPO 70 18735004 263934009

Summaries for Omphalocele, X-Linked

MalaCards based summary : Omphalocele, X-Linked is related to omphalocele and omphalocele, autosomal. An important gene associated with Omphalocele, X-Linked is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1). Related phenotypes are omphalocele and limbs/digits/tail

Description from OMIM: 310980

Related Diseases for Omphalocele, X-Linked

Diseases related to Omphalocele, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 omphalocele 9.6 GJB2 PLOD1
2 omphalocele, autosomal 9.5 GJB2 PLOD1

Symptoms & Phenotypes for Omphalocele, X-Linked

Human phenotypes related to Omphalocele, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 omphalocele 33 HP:0001539

Symptoms via clinical synopsis from OMIM:

58
Abdomen:
omphalocele

Clinical features from OMIM:

310980

MGI Mouse Phenotypes related to Omphalocele, X-Linked:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.65 GJB2
2 no phenotypic analysis MP:0003012 8.62 GJB2 PLOD1

Drugs & Therapeutics for Omphalocele, X-Linked

Search Clinical Trials , NIH Clinical Center for Omphalocele, X-Linked

Genetic Tests for Omphalocele, X-Linked

Anatomical Context for Omphalocele, X-Linked

Publications for Omphalocele, X-Linked

Variations for Omphalocele, X-Linked

ClinVar genetic disease variations for Omphalocele, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
2 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
3 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
4 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571

Expression for Omphalocele, X-Linked

Search GEO for disease gene expression data for Omphalocele, X-Linked.

Pathways for Omphalocele, X-Linked

GO Terms for Omphalocele, X-Linked

Sources for Omphalocele, X-Linked

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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