SLC38A8, solute carrier family 38 member 8, 146167

N. diseases: 19; N. variants: 10
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3807873
Disease: FOVEAL HYPOPLASIA 2
FOVEAL HYPOPLASIA 2
disease Disease or Syndrome 1 5 0.700 strong 1.000 2 5 2013 2014
Foveal Hypoplasia and Anterior Segment Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4531296
Disease: Optic nerve misrouting
Optic nerve misrouting
phenotype Anatomical Abnormality 2 0.120 None 1.000 2 2013 2019
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.110 None 1.000 1 2014 2014
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
phenotype Finding 25 4 0.100 None 0 1
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C3809301
Disease: Foveal hyperpigmentation
Foveal hyperpigmentation
phenotype Finding 3 0.100 None 0
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
disease Disease or Syndrome 1 2 0.100 None 0 2
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.100 None 0 1
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
disease Finding 1 2 0.100 None 0 2
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1850993
Disease: Foveal Hypoplasia, Isolated
Foveal Hypoplasia, Isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2013 2013
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 38 24 0.010 None 1.000 1 2019 2019
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.010 None 1.000 1 2019 2019
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.010 None 1.000 1 2014 2014
CUI: C0001916
Disease: Albinism
Albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 27 0.010 None 1.000 1 2013 2013