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.
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
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: 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
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: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.450 strong 1.000 6 2 1996 2015
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.400 strong 1.000 1 4 2018 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.320 None 1.000 2 2018 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.310 None 1.000 1 2017 2017
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2008 2008
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.200 None 1.000 11 3 2010 2020
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.130 None 1.000 3 2 2007 2019
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.120 None 1.000 2 2010 2017
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.110 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2012 2012
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.110 None 1.000 1 2019 2019
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 57 3 0.110 None 1.000 1 2015 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 12 2 1993 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 12 1 1993 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 12 1 1993 2015
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: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 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: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
Aplasia/Hypoplasia of the optic nerve
phenotype Finding 1 0.100 None 0
Elevated amniotic fluid alpha-fetoprotein
phenotype Finding 4 0.100 None 0