FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 Biomarker disease HPO
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.610 Biomarker disease CTD_human
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		0.610 Biomarker disease CTD_human
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		0.510 Biomarker disease CTD_human
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 Biomarker group HPO
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.430 Biomarker disease HPO
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.350 Biomarker disease GENOMICS_ENGLAND
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.150 Biomarker disease HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.140 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype HPO
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.130 Biomarker disease HPO
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.120 Biomarker disease HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.120 Biomarker disease HPO
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.120 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.110 Biomarker phenotype HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.110 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.110 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.110 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 Biomarker disease HPO