DisGeNET - a database of gene-disease associations

PLOD1, procollagen-lysine,2-oxoglutarate 5-dioxygenase 1, 5351

N. diseases: 123; N. variants: 19

Disease: Kyphosis deformity of spine ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0022821
Disease:	Kyphosis deformity of spine

Kyphosis deformity of spine

0.400

Biomarker

phenotype

CTD_human

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

15666309

2005

CUI:	C0022821
Disease:	Kyphosis deformity of spine

Kyphosis deformity of spine

0.400

Biomarker

phenotype

HPO