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: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 26 0.780 None 1.000 16 25 2001 2017
CUI: C3647231
Disease: Oculocutaneous albinism type 4
Oculocutaneous albinism type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.070 None 1.000 7 2002 2017
CUI: C0268499
Disease: Autosomal dominant oculocutaneous albinism
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: C2673584
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder)
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: C1849412
Disease: Macular hypoplasia
Macular hypoplasia 		phenotype Finding 7 0.100 None 0
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
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: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.010 None 1.000 1 2010 2010
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		disease Disease or Syndrome 11 13 0.010 None 1.000 1 1 2010 2010
CUI: C0015396
Disease: Eye Color
Eye Color 		phenotype Organism Attribute 13 31 0.100 None 1.000 2 1 2010 2018
CUI: C1868717
Disease: Behavioural and psychiatric symptoms of dementia
Behavioural and psychiatric symptoms of dementia 		disease Mental or Behavioral Dysfunction 14 2 0.010 None 1.000 1 2018 2018
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		phenotype Finding 18 11 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: C4551516
Disease: Hip pain
Hip pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 21 0.010 None 1.000 1 2019 2019
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		phenotype Finding 23 1 0.100 None 0
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype Organ or Tissue Function 24 72 0.100 None 1.000 4 3 2007 2018
CUI: C0019559
Disease: Hip joint pain
Hip joint pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 24 0.010 None 1.000 1 2019 2019
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 25 4 0.100 None 0
CUI: C0025209
Disease: Melanosis
Melanosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 26 23 0.100 None 1.000 1 1 2018 2018
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: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 28 2 0.100 None 0
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: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
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: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 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