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: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3
disease Disease or Syndrome 1 2 0.700 3 2 2013 2016
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality; Disease or Syndrome 11 5 0.530 1.000 4 2013 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 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 0
CUI: C3554105
Disease: PERRAULT SYNDROME 2
PERRAULT SYNDROME 2
disease Disease or Syndrome 2 2 0.200 1 2013 2013
CUI: C3809105
Disease: PERRAULT SYNDROME 4
PERRAULT SYNDROME 4
disease Disease or Syndrome 3 7 0.200 1 2013 2013
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 67 0.100 0
Congenital sensorineural hearing loss
disease Congenital Abnormality 28 4 0.100 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus
disease Congenital Abnormality 36 0.100 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Disease or Syndrome 84 8 0.100 0
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.100 0
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease Endocrine System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 24 122 0.010 1.000 1 2018 2018