Source: INFERRED

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: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		disease 0.800 None 1.000 5 16 1998 2019
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease 0.460 None 1.000 0 0 2009 2019
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		disease 0.440 None 0.750 0 0 2011 2013
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease 0.410 None 1.000 0 0 2010 2010
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		phenotype 0.400 None 1.000 0 0 2009 2010
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease 0.400 None 1.000 0 0 2010 2010
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.110 None 1.000 0 0 2009 2009
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0162701
Disease: Polysomnography
Polysomnography 		phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease 0.100 None 1.000 1 1 2013 2013
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0858684
Disease: Facial telangiectasia
Facial telangiectasia 		phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0747556
Disease: Recurrent pharyngitis
Recurrent pharyngitis 		phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype 0.100 None 0 0
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3 		solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0