Source: HPO

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: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.700 moderate 0.814 0 0 2000 2019
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.700 moderate 0.786 0 0 2001 2019
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		disease 0.160 None 1.000 0 0 2010 2015
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease 0.140 None 1.000 0 0 2002 2014
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease 0.140 None 0.750 0 0 2002 2011
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.130 None 1.000 0 0 2004 2015
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1860107
Disease: Distal femoral bowing
Distal femoral bowing 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1845169
Disease: Renal phosphate wasting
Renal phosphate wasting 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0544755
Disease: Genu varum
Genu varum 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0702166
Disease: Acne
Acne 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1282952
Disease: Enthesitis
Enthesitis 		disease 0.100 None 0 0