Kyphoscoliotic ehlers-danlos syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Ehlers-Danlos syndrome kyphoscoliotic type C4551497 PLOD1 Causal Pathogenic evidence from ClinVar 15666309 ClinVar
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency 1900 PLOD1 Causal Pathogenic evidence from ClinVar - ClinVar
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 C3281160 FKBP14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22265013, 24677762, 27149304, 28617417 -
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency 300179 FKBP14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -