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: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 4 0.770 None 1.000 12 4 1993 2019
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 6 0.740 strong 1.000 11 6 1993 2019
CUI: C1842137
Disease: Nonsyndromic sensorineural hearing loss
Nonsyndromic sensorineural hearing loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 1 1 0.100 None 1.000 1 1 2015 2015
CUI: C4706469
Disease: X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 5 		disease Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C4024743
Disease: Aplasia/Hypoplasia of the optic nerve
Aplasia/Hypoplasia of the optic nerve 		phenotype Finding 1 0.100 None 0
CUI: C4476851
Disease: 5-minute APGAR score of 1
5-minute APGAR score of 1 		phenotype Finding 1 0.100 None 0
CUI: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		phenotype Finding 1 0.100 None 0
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 7 0.740 strong 1.000 10 7 1993 2016
CUI: C4024706
Disease: Spinal cord posterior columns myelin loss
Spinal cord posterior columns myelin loss 		phenotype Finding 2 0.100 None 0
CUI: C0948643
Disease: Hyperuricosuria
Hyperuricosuria 		phenotype Finding 3 0.100 None 0
CUI: C1853702
Disease: Muscle mounding
Muscle mounding 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 35 0.010 None 1.000 1 2015 2015
CUI: C0558595
Disease: Uric acid renal calculus
Uric acid renal calculus 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1839860
Disease: Elevated amniotic fluid alpha-fetoprotein
Elevated amniotic fluid alpha-fetoprotein 		phenotype Finding 4 0.100 None 0
CUI: C4022576
Disease: Slow pupillary light response
Slow pupillary light response 		phenotype Finding 4 0.100 None 0
CUI: C0403719
Disease: Uric acid urolithiasis
Uric acid urolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.100 None 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		phenotype Finding 5 0.100 None 0
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate Synthetase Superactivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 7 0.710 limited 1.000 11 7 1993 2017
CUI: C1850069
Disease: Undetectable visual evoked potentials
Undetectable visual evoked potentials 		phenotype Finding 6 1 0.100 None 0
CUI: C4551551
Disease: X-linked hereditary motor and sensory neuropathy
X-linked hereditary motor and sensory neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 1 0.020 None 1.000 2 2010 2013
CUI: C0392553
Disease: Hereditary peripheral neuropathy
Hereditary peripheral neuropathy 		disease Nervous System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2007 2007
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 11 0.100 None 0
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		disease Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2007 2007
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype Finding 14 4 0.100 None 0
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 18 61 0.100 None 0 2