Aliases & Classifications for Omphalocele, X-Linked

MalaCards integrated aliases for Omphalocele, X-Linked:

Name: Omphalocele, X-Linked 57

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
omphalocele, x-linked:
Inheritance x-linked inheritance


External Ids:

OMIM 57 310980
MedGen 42 C3275625
SNOMED-CT via HPO 69 263934009 18735004

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 9.8 GJB2 PLOD1
2 omphalocele, autosomal 9.7 GJB2 PLOD1

Symptoms & Phenotypes for Omphalocele, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Abdomen:
omphalocele


Clinical features from OMIM:

310980

Human phenotypes related to Omphalocele, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 omphalocele 32 HP:0001539

MGI Mouse Phenotypes related to Omphalocele, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.96 GJB2 PLOD1
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 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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