BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
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: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 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: C0028840
Disease: Ocular Hypertension
Ocular Hypertension
disease Eye Diseases Disease or Syndrome 103 8 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
Renal cell carcinoma, usually clear cell type
phenotype Neoplasms Finding 1 0.300 strong 0
CUI: C2036842
Disease: Inferior lens subluxation
Inferior lens subluxation
disease Eye Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0026961
Disease: Mydriasis
Mydriasis
phenotype Eye Diseases Sign or Symptom 25 2 0.100 None 0
CUI: C0346379
Disease: Malignant melanoma of ciliary body
Malignant melanoma of ciliary body
disease Neoplasms; Eye Diseases Neoplastic Process 6 0.100 None 0
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye
disease Disease or Syndrome 88 1 0.100 None 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system
disease Anatomical Abnormality 16 0.100 None 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease Anatomical Abnormality 28 31 0.100 None 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.300 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.200 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0151827
Disease: Eye pain
Eye pain
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 10 0.100 None 0
CUI: C0085635
Disease: Photopsia
Photopsia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE
disease Eye Diseases Disease or Syndrome 63 5 0.100 None 0
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 6 0.100 None 0
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 18 1 0.100 None 0
CUI: C1705500
Disease: Flasher - visual manifestation
Flasher - visual manifestation
phenotype Sign or Symptom 6 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.100 None 0