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: C2228039
Disease: Ankle weakness
Ankle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 16 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		phenotype Finding 16 1 0.100 None 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		phenotype Finding 19 0.100 None 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		phenotype Finding 9 0.100 None 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 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
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype Finding 54 8 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		disease Neoplasms Neoplastic Process 43 1 0.100 None 0
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		phenotype Finding 7 0.100 None 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 47 2 0.100 None 0
CUI: C0085623
Disease: Akinesia
Akinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.100 None 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 13 0.100 None 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		phenotype Finding 29 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 121 8 0.100 None 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 13 0.300 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype Finding 44 0.100 None 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		phenotype Finding 13 0.100 None 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype Finding 30 0.100 None 0