Orphanet: phosphatidylinositol glycan anchor biosynthesis class N PIGN PIG N

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PIGN - phosphatidylinositol glycan anchor biosynthesis class N

Synonym(s) : MCD4, MDC4, PIG-N
Previous symbols and names : phosphatidylinositol glycan, class N
Type : gene with protein product
Chromosomal location : 18q21.33
OMIM: 606097
HGNC: 8967
UniProtKB: O95427
Genatlas: PIGN
GenCC: PIGN
Ensembl: ENSG00000197563
IUPHAR-DB: -
Reactome: O95427
LOVD: PIGN

Diseases list

Disease-causing germline mutation(s) in Fryns syndrome ORPHA:2059
Disease-causing germline mutation(s) in Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (41)

Research activities on this gene

Specialised Social Services

Eurordis directory

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