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FLNA

filamin A

gene with protein productOMIM: 30001711 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4
Congenital short bowel syndromeORPHA:2301
→
FLNA-related X-linked myxomatous valvular dysplasiaORPHA:555877
→
Terminal osseous dysplasia-pigmentary defects syndromeORPHA:88630
→
Neuronal intestinal pseudoobstructionORPHA:99811
→
Disease-causing germline mutation(s) (gain of function) in4
Frontometaphyseal dysplasiaORPHA:1826
→
Melnick-Needles syndromeORPHA:2484
→
Otopalatodigital syndrome type 2ORPHA:90652
→
Otopalatodigital syndrome type 1ORPHA:90650
→
Disease-causing germline mutation(s) (loss of function) in3
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeORPHA:482606
→
X-linked Ehlers-Danlos syndromeORPHA:75497
→
Periventricular nodular heterotopiaORPHA:98892
→
Данные: Orphadata (CC-BY-4.0)