FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Melnick-Needles Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338837
rs80338837
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		0.700 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221 2016
dbSNP: rs80338837
rs80338837
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		0.700 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003