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: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19
disease Disease or Syndrome 1 6 0.600 1 6 2014 2014
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 167 70 0.300 1 2009 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 325 94 0.300 1 2009 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 160 70 0.300 1 2009 2009
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.300 0
CUI: C0730290
Disease: Cone dystrophy
Cone dystrophy
disease Disease or Syndrome 47 13 0.110 1.000 1 2018 2018
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 313 807 0.100 1 1 2011 2011
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 0.100 0
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C3552853
Disease: Color vision defect, severe
Color vision defect, severe
phenotype Finding 41 0.100 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 52 12 0.100 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 166 0.100 0
Retinal pigment epithelial abnormality
phenotype Finding 166 2 0.100 0
CUI: C0009398
Disease: Color vision defect
Color vision defect
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 48 2 0.100 0
CUI: C0028077
Disease: Night Blindness
Night Blindness
disease Eye Diseases Disease or Syndrome 131 18 0.100 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 187 1 0.100 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision
phenotype Finding 41 0.100 0
CUI: C4229565
Disease: Loss in color vision
Loss in color vision
phenotype Finding 41 0.100 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 177 181 0.010 1.000 1 1 2014 2014
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.010 1.000 1 2010 2010
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.010 1.000 1 2010 2010
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
disease Disease or Syndrome 73 9 0.010 1.000 1 2016 2016