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HESX1 - HESX homeobox 1

Synonym(s) : ANF, RPX
Previous symbols and names : homeobox, ES cell expressed 1
Type : gene with protein product
Chromosomal location : 3p14.3
OMIM: 601802
HGNC: 4877
UniProtKB: Q9UBX0
Genatlas: HESX1
GenCC: HESX1
Ensembl: ENSG00000163666
IUPHAR-DB: -
Reactome: Q9UBX0
LOVD: HESX1

Diseases list

Disease-causing germline mutation(s) in Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
Disease-causing germline mutation(s) in Hypothyroidism due to deficient transcription factors involved in pituitary development or function ORPHA:226307
Disease-causing germline mutation(s) in Kallmann syndrome ORPHA:478
Disease-causing germline mutation(s) in Pituitary stalk interruption syndrome ORPHA:95496
Disease-causing germline mutation(s) in Septo-optic dysplasia spectrum ORPHA:3157

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (123)

Research activities on this gene

Specialised Social Services

Eurordis directory

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