SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
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.
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 1 0.300 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype Finding 28 2 0.100 None 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 5 0.100 None 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
phenotype Finding 25 4 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C1849412
Disease: Macular hypoplasia
Macular hypoplasia
phenotype Finding 7 0.100 None 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
phenotype Finding 18 11 0.100 None 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration
phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin
phenotype Finding 40 1 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair
phenotype Finding 23 1 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 19 0.300 None 1.000 1 2010 2010
Organic Mental Disorders, Substance-Induced
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 128 20 0.300 None 1.000 1 2010 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.300 None 1.000 1 2010 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse
phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0.300 None 1.000 1 2010 2010
CUI: C0013146
Disease: Drug abuse
Drug abuse
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.300 None 1.000 1 2010 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation
phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19 0.300 None 1.000 1 2010 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0.300 None 1.000 1 2010 2010
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2009 2009
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 248 31 0.300 None 1.000 1 2010 2010