MCID: PRT060
MIFTS: 12

Parietal Foramina 2 malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Parietal Foramina 2

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Sources:
48OMIM, 34MalaCards
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MalaCards: Parietal Foramina 2 An important gene associated with Parietal Foramina 2 is ALX4 (ALX homeobox 4).

Description from OMIM:48 609597

Aliases & Classifications for Parietal Foramina 2

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

parietal foramina 2 21 23 48 63


Related Diseases for Parietal Foramina 2

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Diseases in the Parietal Foramina 1 family:

Enlarged Parietal Foramina parietal foramina 2

Symptoms for Parietal Foramina 2

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

609597

Clinical features from OMIM:

609597

Drugs & Therapeutics for Parietal Foramina 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Parietal Foramina 2

Drug clinical trials:

Search ClinicalTrials for Parietal Foramina 2

Search NIH Clinical Center for Parietal Foramina 2

Search CenterWatch for Parietal Foramina 2

Genetic Tests for Parietal Foramina 2

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Parietal Foramina 2:

id Genetic test Affiliating Genes
1 Parietal Foramina 221 23 ALX4

Anatomical Context for Parietal Foramina 2

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Animal Models for Parietal Foramina 2 or affiliated genes

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Publications for Parietal Foramina 2

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Variations for Parietal Foramina 2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Parietal Foramina 2:

65
id Symbol AA change Variation ID SNP ID
1ALX4p.Arg218GlnVAR_010785
2ALX4p.Arg272ProVAR_010897

Clinvar genetic disease variations for Parietal Foramina 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1ALX4NM_021926.3(ALX4): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs104894191GRCh37Chr 11, 44331195: 44331195
2ALX4NM_021926.3(ALX4): c.736C> T (p.Gln246Ter)single nucleotide variantPathogenicrs104894192GRCh37Chr 11, 44296939: 44296939
3ALX4NM_021926.3(ALX4): c.653G> A (p.Arg218Gln)single nucleotide variantPathogenicrs104894193GRCh37Chr 11, 44297022: 44297022
4ALX4ALX4, 1-BP DEL, 504TdeletionPathogenic
5ALX4NM_021926.3(ALX4): c.815G> C (p.Arg272Pro)single nucleotide variantPathogenicrs104894196GRCh37Chr 11, 44289135: 44289135
6ALX4NM_021926.3(ALX4): c.620C> A (p.Ser207Ter)single nucleotide variantPathogenicrs104894197GRCh37Chr 11, 44297055: 44297055
7ALX4NM_021926.3(ALX4): c.385_394delTGCAAGACGC (p.Cys129Profs)deletionPathogenicrs387906325GRCh37Chr 11, 44331219: 44331228

Expression for genes affiliated with Parietal Foramina 2

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parietal Foramina 2

Search GEO for disease gene expression data for Parietal Foramina 2.

Pathways for genes affiliated with Parietal Foramina 2

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Compounds for genes affiliated with Parietal Foramina 2

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GO Terms for genes affiliated with Parietal Foramina 2

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Products for genes affiliated with Parietal Foramina 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parietal Foramina 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet