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: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
disease Disease or Syndrome 1 6 0.700 strong 1.000 3 6 2017 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.130 None 1.000 3 2018 2020
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.120 None 1.000 2 2 2018 2019
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.110 None 1.000 1 2018 2018
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype Finding 54 8 0.100 None 0
CUI: C0234518
Disease: Slurred speech
Slurred speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 39 10 0.100 None 0 2
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype Finding 44 6 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0 2
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
phenotype Finding 22 5 0.100 None 0 2
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: C0231687
Disease: Spastic gait
Spastic gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0 2
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0 2
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair
phenotype Finding 60 4 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0 2