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: 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: 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 0.974 38 10 1994 2019
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.330 None 1.000 3 2 2005 2018
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.200 None 1.000 13 4 2004 2019
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 0.150 None 1.000 5 5 2003 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.120 None 1.000 4 3 2011 2019
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.120 None 1.000 2 1 2009 2011
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.110 None 1.000 2 1 2010 2015
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.110 None 1.000 2 1 2016 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 12 2 1993 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 12 2 1993 2016
CUI: C0015396
Disease: Eye Color
Eye Color 		phenotype Organism Attribute 13 31 0.100 None 1.000 4 4 2013 2018
CUI: C0018498
Disease: Hair Color
Hair Color 		phenotype Organism Attribute 130 312 0.100 None 1.000 3 15 2008 2018
CUI: C0406208
Disease: Suntan
Suntan 		phenotype Organ or Tissue Function 53 94 0.100 None 1.000 2 1 2018 2018
CUI: C0474350
Disease: Color of iris
Color of iris 		phenotype Finding 3 28 0.100 None 1.000 1 11 2008 2008
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: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.100 None 1.000 1 1 2017 2017
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: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype Organ or Tissue Function 24 72 0.100 None 1.000 1 1 2018 2018
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.100 None 1.000 1 1 2012 2012
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0