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Details von Gen "GABRD"

GABRD (HGNC-ID: 4084)

Chromosom: 1p36.33 (Das Gen befindet sich am kurzen Chromosomen-Arm)
Gen-Name: gamma-aminobutyric acid type A receptor delta subunit
NCBI Reference Sequence: NM_000815
Gen-Familie: Gamma-aminobutyric acid type A receptor subunits
Synonym: GABA(A) receptor, delta
Locus Typ: gene with protein product
NCBI-Gene-ID: 2563

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Sequencing (NGS):Gene Editing (CRISPR/CAS):

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Verknüpfte Krankheiten

Schizophrenia (ID: umls:C0036341)

Beschreibung: gamma-aminobutyric acid (GABA) A receptor, delta
Score: 0.12000000000000

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Idiopathic generalized epilepsy (ID: umls:C0270850)

Beschreibung: gamma-aminobutyric acid (GABA) A receptor, delta
Score: 0.12000000000000

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Myoclonic Epilepsy, Juvenile (ID: umls:C0270853)

Beschreibung: gamma-aminobutyric acid (GABA) A receptor, delta
Score: 0.12000000000000

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Chromosome 1p36 Deletion Syndrome (ID: umls:C1842870)

Beschreibung: gamma-aminobutyric acid (GABA) A receptor, delta
Score: 0.12000000000000

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GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 (ID: umls:C1858672)

Beschreibung: gamma-aminobutyric acid (GABA) A receptor, delta
Score: 0.12000000000000

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EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (ID: umls:C2751603)

Beschreibung: gamma-aminobutyric acid (GABA) A receptor, delta
Score: 0.24000000000000

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