MCID: FML336
MIFTS: 9

Familial Patent Arterial Duct

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Patent Arterial Duct

MalaCards integrated aliases for Familial Patent Arterial Duct:

Name: Familial Patent Arterial Duct 59

Classifications:



External Ids:

Orphanet 59 ORPHA466729

Summaries for Familial Patent Arterial Duct

MalaCards based summary : Familial Patent Arterial Duct is related to patent ductus arteriosus 1. An important gene associated with Familial Patent Arterial Duct is TFAP2B (Transcription Factor AP-2 Beta). Related phenotype is respiratory system.

Related Diseases for Familial Patent Arterial Duct

Diseases related to Familial Patent Arterial Duct via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 patent ductus arteriosus 1 9.0 PRDM6 TFAP2B

Symptoms & Phenotypes for Familial Patent Arterial Duct

MGI Mouse Phenotypes related to Familial Patent Arterial Duct:

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# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 PRDM6 TFAP2B

Drugs & Therapeutics for Familial Patent Arterial Duct

Search Clinical Trials , NIH Clinical Center for Familial Patent Arterial Duct

Genetic Tests for Familial Patent Arterial Duct

Anatomical Context for Familial Patent Arterial Duct

Publications for Familial Patent Arterial Duct

Variations for Familial Patent Arterial Duct

Expression for Familial Patent Arterial Duct

Search GEO for disease gene expression data for Familial Patent Arterial Duct.

Pathways for Familial Patent Arterial Duct

GO Terms for Familial Patent Arterial Duct

Biological processes related to Familial Patent Arterial Duct according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 8.96 PRDM6 TFAP2B
2 negative regulation of transcription, DNA-templated GO:0045892 8.62 PRDM6 TFAP2B

Molecular functions related to Familial Patent Arterial Duct according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.62 PRDM6 TFAP2B

Sources for Familial Patent Arterial Duct

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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