OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91
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: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		phenotype Finding 2 9 0.400 None 1.000 3 6 1994 1999
CUI: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 4 0.020 None 1.000 2 1 2008 2012
CUI: C0268497
Disease: Brown oculocutaneous albinism
Brown oculocutaneous albinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 1 0.400 strong 0 1
CUI: C0474350
Disease: Color of iris
Color of iris 		phenotype Finding 3 28 0.100 None 1.000 1 11 2008 2008
CUI: C4552411
Disease: Myopic traction maculopathy
Myopic traction maculopathy 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas 		phenotype Finding 5 1 0.100 None 0
CUI: C4285937
Disease: Invasive bacterial infection
Invasive bacterial infection 		disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C1301721
Disease: Neurological morbidity
Neurological morbidity 		disease Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
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: C0239803
Disease: Red hair
Red hair 		phenotype Finding 9 1 0.100 None 0
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 0.800 None 1.000 47 52 1994 2017
CUI: C0010678
Disease: Cysticercosis
Cysticercosis 		disease Infections Disease or Syndrome 12 2 0.010 None 1.000 1 1996 1996
CUI: C0015396
Disease: Eye Color
Eye Color 		phenotype Organism Attribute 13 31 0.100 None 1.000 4 4 2013 2018
CUI: C0339546
Disease: Retinal Pigment Epithelial Detachment
Retinal Pigment Epithelial Detachment 		disease Eye Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2019 2019
CUI: C1402291
Disease: Pigmented lesions
Pigmented lesions 		disease Disease or Syndrome 18 3 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: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.090 None 1.000 9 1991 2005
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype Organ or Tissue Function 24 72 0.100 None 1.000 1 1 2018 2018
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 25 4 0.100 None 0
CUI: C0006023
Disease: Borna Disease
Borna Disease 		disease Infections; Animal Diseases Disease or Syndrome 26 0.010 None 1.000 1 1996 1996
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 28 2 0.100 None 0
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2015 2015
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2015 2015
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		disease Cardiovascular Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 2018 2018