Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

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...

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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Genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁶²UniProtKB/Swiss-Prot
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Genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis:

id	Symbol	Products	Description	Score	Implication
1	POR		P450 (cytochrome) oxidoreductase	32.18	Molecular basis known ⁴⁶ Causative variation ⁶² GeneCards inferred : Disorders (show sections)

Products for genes related to Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	1	1	1
2	LSBio	-	-	1

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
1	POR	p.Ala284Pro	VAR_021155
2	POR	p.Arg454His	VAR_021156
3	POR	p.Val489Glu	VAR_021157
4	POR	p.Tyr575Cys	VAR_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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GO Terms for genes affiliated with Antley-Bixler Syndrome with Genital Anomalies and Disordered...

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Antibodies
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Antibodies

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

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Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis malady