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: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Finding 107 0.100 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 62 0.100 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 3 1970 2018
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplastic Process 504 40 0.010 1.000 1 2013 2013
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 720 81 0.010 1.000 1 2013 2013
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 570 74 0.010 1.000 1 2013 2013
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic
disease Neoplasms Neoplastic Process 121 0.010 1.000 1 2013 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Endocrine System Diseases; Neoplasms Neoplastic Process 475 35 0.010 1.000 1 2013 2013
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy
disease Disease or Syndrome 38 4 0.020 1.000 2 2016 2018
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 37 2 0.020 1.000 2 2016 2018
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
disease Disease or Syndrome 1 2 0.600 1 2 2016 2016