Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		disease 0.700 limited 1.000 3 4 2008 2019
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.200 None 1.000 1 0 2005 2005
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.110 None 1.000 1 0 2020 2020
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease 0.100 None 1.000 1 1 2011 2011
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1864715
Disease: Thenar muscle atrophy
Thenar muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease 0.100 None 0 0