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NDE1 - nudE neurodevelopment protein 1
- Synonym(s) : FLJ20101, NDE, NUDE, nudE
- Previous symbols and names : NudE nuclear distribution gene E homolog 1 (A. nidulans), nudE nuclear distribution E homolog 1 (A. nidulans), nudE nuclear distribution gene E homolog 1 (A. nidulans)
- Type : gene with protein product
- Chromosomal location : 16p13.11
- OMIM: 609449
- HGNC: 17619
- UniProtKB: Q9NXR1
- Genatlas: NDE1
- GenCC: NDE1
- Ensembl: ENSG00000072864
- IUPHAR-DB: -
- Reactome: Q9NXR1
- LOVD: NDE1
Diseases list
- Disease-causing germline mutation(s) in Hydranencephaly
ORPHA:2177 - Disease-causing germline mutation(s) in Lissencephaly syndrome, Norman-Roberts type
ORPHA:89844 - Disease-causing germline mutation(s) in NDE1-related microhydranencephaly
ORPHA:443162

Additional information
Patient-centred resources for this gene
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