MCID: FML336
MIFTS: 10

Familial Patent Arterial Duct

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

Aliases & Classifications for Familial Patent Arterial Duct

MalaCards integrated aliases for Familial Patent Arterial Duct:

Name: Familial Patent Arterial Duct 60

Classifications:



External Ids:

Orphanet 60 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 PRDM6 (PR/SET Domain 6). 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 9.5 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 9.16 PRDM6 TFAP2B
2 sequence-specific DNA binding GO:0043565 8.96 PRDM6 TFAP2B
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 PRDM6 TFAP2B

Sources for Familial Patent Arterial Duct

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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