MCID: ANT042

Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady

Summaries for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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46OMIM, 32MalaCards
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MalaCards: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (P450 (cytochrome) oxidoreductase).

Description from OMIM:46 201750

Aliases & Classifications for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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46OMIM
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Aliases & Descriptions:

antley-bixler syndrome with genital anomalies and disordered steroidogenesis 46


Related Diseases for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Clinical Features for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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46OMIM
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Clinical features from OMIM:

201750

Clinical synopsis from OMIM:

201750

Drugs & Therapeutics for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Anatomical Context for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Animal Models for Antley-Bixler Syndrome with Genital Anomalies and Disordered... or affiliated genes

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Publications for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Genetic Variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

62
id Symbol AA change Variation ID SNP ID
1PORp.Ala284ProVAR_021155
2PORp.Arg454HisVAR_021156
3PORp.Val489GluVAR_021157
4PORp.Tyr575CysVAR_021159

Expression for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

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Pathways for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Compounds for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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GO Terms for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Products for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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  • Proteins
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Sources for Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet