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: C1527344
Disease: Dysphonia
Dysphonia
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
phenotype Disease or Syndrome 30 25 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand
phenotype Finding 35 7 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0345832
Disease: Neoplasm of small intestine
Neoplasm of small intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 9 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0332573
Disease: Macule
Macule
phenotype Finding 31 2 0.100 None 0
CUI: C0332563
Disease: Papule
Papule
phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.100 None 0 1
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 19 0.100 None 0
CUI: C0522357
Disease: Vertigo, Paroxysmal
Vertigo, Paroxysmal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 16 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: C1519353
Disease: Skin Papule
Skin Papule
phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 0.100 None 0
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 99 32 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C0751559
Disease: Pulsatile Tinnitus
Pulsatile Tinnitus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 15 1 0.100 None 0