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.
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0085602
Disease: Polydipsia
Polydipsia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 61 5 0.100 None 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting
phenotype Finding 22 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis
disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.100 None 0
CUI: C1846348
Disease: Renal potassium wasting
Renal potassium wasting
phenotype Finding 6 1 0.100 None 0
Glycosylphosphatidylinositol deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0 1
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0032617
Disease: Polyuria
Polyuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 73 3 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.100 None 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction
phenotype Finding 16 0.100 None 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 5 0.100 None 0 1
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0 1
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis
disease Disease or Syndrome 10 3 0.100 None 0
CUI: C0240928
Disease: Salt craving
Salt craving
phenotype Mental Disorders Sign or Symptom 3 0.100 None 0
CUI: C0240783
Disease: Increased circulating renin level
Increased circulating renin level
phenotype Finding 10 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE
phenotype Finding 21 0.100 None 0