MCID: PRT060
MIFTS: 12

Parietal Foramina 2 malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Parietal Foramina 2

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Parietal Foramina 2 An important gene associated with Parietal Foramina 2 is ALX4 (ALX homeobox 4).

Description from OMIM:47 609597

Aliases & Classifications for Parietal Foramina 2

About this section
Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

parietal foramina 2 20 22 47 62


Related Diseases for Parietal Foramina 2

About this section

Diseases in the Parietal Foramina 1 family:

Enlarged Parietal Foramina parietal foramina 2

Symptoms for Parietal Foramina 2

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

609597

Clinical features from OMIM:

609597

Drugs & Therapeutics for Parietal Foramina 2

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Parietal Foramina 2

Search NIH Clinical Center for Parietal Foramina 2

Genetic Tests for Parietal Foramina 2

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Parietal Foramina 2:

id Genetic test Affiliating Genes
1 Parietal Foramina 220 22 ALX4

Anatomical Context for Parietal Foramina 2

About this section

Animal Models for Parietal Foramina 2 or affiliated genes

About this section

Publications for Parietal Foramina 2

About this section

Variations for Parietal Foramina 2

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Parietal Foramina 2:

64
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Parietal Foramina 2

About this section

GO Terms for genes affiliated with Parietal Foramina 2

About this section

Products for genes affiliated with Parietal Foramina 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parietal Foramina 2

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet