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: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 22 0.300 strong 0
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 29 10 0.100 None 0
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: 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: C0474819
Disease: Glomus vagale tumor
Glomus vagale tumor 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 2 0.100 None 0
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.100 None 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.100 None 0
CUI: C0221154
Disease: Paroxysmal hypertension
Paroxysmal hypertension 		disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine 		disease Neoplasms Neoplastic Process 182 7 0.300 strong 0
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.100 None 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 6 0.100 None 0
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		phenotype Digestive System Diseases Disease or Syndrome 44 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		disease Cardiovascular Diseases Disease or Syndrome 154 0.100 None 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 3 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