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.
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
phenotype Finding 18 11 0.100 None 0
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 0.160 None 1.000 6 1 2004 2017
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 9 0.010 None 1.000 1 2015 2015
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 0.020 None 1.000 2 2008 2014
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.600 strong 0.923 26 5 2001 2019
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.020 None 1.000 2 2011 2012
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 1 2015 2015
Autosomal dominant oculocutaneous albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 2017 2017
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer
disease Neoplasms Neoplastic Process 64 109 0.100 None 1.000 2 2 2016 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 108 109 0.100 None 1.000 2 2 2016 2019
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm
disease Neoplasms Neoplastic Process 58 109 0.100 None 1.000 2 2 2016 2019
Behavioural and psychiatric symptoms of dementia
disease Mental or Behavioral Dysfunction 14 2 0.010 None 1.000 1 2018 2018
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype Finding 28 2 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2011 2011
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.420 None 1.000 2 1 2009 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.040 None 1.000 4 2010 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
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: 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
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
Experimental Organism Basal Cell Carcinoma
phenotype Neoplasms Neoplastic Process 437 63 0.020 None 1.000 2 1 2009 2014
CUI: C0015396
Disease: Eye Color
Eye Color
phenotype Organism Attribute 13 31 0.100 None 1.000 2 1 2010 2018
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
phenotype Finding 25 4 0.100 None 0
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 4 5 2008 2018