FKBP14, FKBP prolyl isomerase 14, 55033

N. diseases: 60; N. variants: 5
Disease: Kyphoscoliosis deformity of spine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.110 GeneticVariation disease BEFREE Biallelic mutations in FKBP14 cause a recessive form of Ehlers-Danlos syndrome (EDS) characterized by progressive kyphoscoliosis, myopathy, and hearing loss. 24677762 2014
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.110 Biomarker disease HPO