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: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2020 2020
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 0 1
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2017 2017
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 15 1 0.100 None 1.000 1 1 2016 2016
CUI: C0162275
Disease: Ketonuria
Ketonuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 3 0.100 None 1.000 1 1 2016 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2020 2020
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 1.000 1 1 2016 2016
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.120 None 1.000 2 2 2016 2020
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.100 None 0 1
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 2 2 2016 2019
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 1.000 1 1 2016 2016
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 1.000 1 1 2016 2016
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 210 32 0.100 None 0 1
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0 1
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 1
CUI: C0015310
Disease: Exotropia
Exotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 78 23 0.100 None 1.000 1 1 2016 2016
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 5 3 0.100 None 1.000 1 2 2016 2016
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 2 0.100 None 1.000 1 2 2016 2016
CUI: C0014347
Disease: Enterobacteriaceae Infections
Enterobacteriaceae Infections 		group Infections Disease or Syndrome 9 0.010 None 1.000 1 2019 2019