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: rs797045044
rs797045044
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		T 0.700 CausalMutation CLINVAR A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 26804200 2016
dbSNP: rs797045044
rs797045044
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0025237
Disease:
Melnick-Needles Syndrome 		T 0.700 CausalMutation CLINVAR Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 26686323 2016