MCID: APR002
MIFTS: 15

Aip-Related Familial Isolated Pituitary Adenomas malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases, Gastrointestinal diseases categories

Aliases & Classifications for Aip-Related Familial Isolated Pituitary Adenomas

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Aliases & Descriptions for Aip-Related Familial Isolated Pituitary Adenomas:

Name: Aip-Related Familial Isolated Pituitary Adenomas 21 22
 
Pituitary Adenoma Predisposition Syndrome 22 24


Classifications:



Summaries for Aip-Related Familial Isolated Pituitary Adenomas

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MalaCards based summary: Aip-Related Familial Isolated Pituitary Adenomas, also known as pituitary adenoma predisposition syndrome, is related to adenoma and pituitary adenoma. An important gene associated with Aip-Related Familial Isolated Pituitary Adenomas is AIP (Aryl Hydrocarbon Receptor Interacting Protein). Affiliated tissues include pituitary.

GeneReviews summary for ipa

Related Diseases for Aip-Related Familial Isolated Pituitary Adenomas

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Graphical network of diseases related to Aip-Related Familial Isolated Pituitary Adenomas:



Diseases related to aip-related familial isolated pituitary adenomas

Symptoms for Aip-Related Familial Isolated Pituitary Adenomas

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Drugs & Therapeutics for Aip-Related Familial Isolated Pituitary Adenomas

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Aip-Related Familial Isolated Pituitary Adenomas

Genetic Tests for Aip-Related Familial Isolated Pituitary Adenomas

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Genetic tests related to Aip-Related Familial Isolated Pituitary Adenomas:

id Genetic test Affiliating Genes
1 Aip-Related Familial Isolated Pituitary Adenomas22 AIP
2 Pituitary Adenoma Predisposition24

Anatomical Context for Aip-Related Familial Isolated Pituitary Adenomas

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MalaCards organs/tissues related to Aip-Related Familial Isolated Pituitary Adenomas:

33
Pituitary

Animal Models for Aip-Related Familial Isolated Pituitary Adenomas or affiliated genes

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Publications for Aip-Related Familial Isolated Pituitary Adenomas

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Articles related to Aip-Related Familial Isolated Pituitary Adenomas:

idTitleAuthorsYear
1
AIP-Related Familial Isolated Pituitary Adenomas (22720333)
1993

Variations for Aip-Related Familial Isolated Pituitary Adenomas

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Clinvar genetic disease variations for Aip-Related Familial Isolated Pituitary Adenomas:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AIPNM_003977.3(AIP): c.40C> T (p.Gln14Ter)single nucleotide variantPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
2AIPNM_003977.3(AIP): c.804C> A (p.Tyr268Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908356GRCh37Chr 11, 67258275: 67258275

Expression for genes affiliated with Aip-Related Familial Isolated Pituitary Adenomas

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Search GEO for disease gene expression data for Aip-Related Familial Isolated Pituitary Adenomas.

Pathways for genes affiliated with Aip-Related Familial Isolated Pituitary Adenomas

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GO Terms for genes affiliated with Aip-Related Familial Isolated Pituitary Adenomas

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Molecular functions related to Aip-Related Familial Isolated Pituitary Adenomas according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1signal transducer activityGO:00048719.1AIP, GNAS

Sources for Aip-Related Familial Isolated Pituitary Adenomas

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet