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: C1844666
Disease: Immune dysregulation
Immune dysregulation 		phenotype Finding 11 1 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4072899
Disease: Abnormal serum interferon-gamma level
Abnormal serum interferon-gamma level 		phenotype Finding 2 0.100 None 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		disease Eye Diseases Disease or Syndrome 55 3 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 37 8 0.100 None 0
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 81 0.100 None 0
CUI: C0040261
Disease: Onychomycosis
Onychomycosis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 27 2 0.100 None 0 1
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 155 33 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0 1
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 62 9 0.100 None 0 1
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0 1
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 19 3 0.100 None 0 1
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 26 1 0.100 None 0
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 8 2 0.100 None 0 2
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation 		phenotype Anatomical Abnormality 16 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		disease Endocrine System Diseases Disease or Syndrome 104 7 0.100 None 0
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.010 None 1.000 1 1995 1995