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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.020 None 1.000 2 2016 2018
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 10 0.200 None 1.000 1 2013 2013
CUI: C3809105
Disease: PERRAULT SYNDROME 4
PERRAULT SYNDROME 4
disease Disease or Syndrome 2 8 0.200 None 1.000 1 2013 2013
CUI: C3554105
Disease: PERRAULT SYNDROME 2
PERRAULT SYNDROME 2
disease Disease or Syndrome 2 7 0.200 None 1.000 1 2013 2013
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
disease Disease or Syndrome 23 7 0.010 None 1.000 1 2016 2016
CUI: C1838180
Disease: CODAS syndrome
CODAS syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 12 0.010 None < 0.001 1 2019 2019
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency
disease Disease or Syndrome 9 0.010 None < 0.001 1 2018 2018
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2018 2018
CUI: C0747102
Disease: Ovarian failure
Ovarian failure
disease Endocrine System Diseases Disease or Syndrome 39 1 0.010 None < 0.001 1 2018 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2018 2018
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 142 0.010 None 1.000 1 2017 2017
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
Congenital sensorineural hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3
disease Disease or Syndrome 1 4 0.910 definitive 1.000 10 4 1995 2018
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality 14 11 0.740 moderate 1.000 5 2013 2017