FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group BEFREE Melnick-Needles syndrome (MNS; MIM 309350) is an X-linked skeletal dysplasia caused by mutations in FLNA. 29575627 2018
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group BEFREE Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. 27193221 2016
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group BEFREE In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males. 21484998 2011
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 Biomarker group CTD_human Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 GeneticVariation group BEFREE This is the second known instance of a male infant with omphalocele and this skeletal dysplasia born to a woman with MNS. 7158644 1982
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 Biomarker group HPO