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: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.600 None 1.000 2 3 2017 2017
CUI: C4479548
Disease: SPECIFIC GRANULE DEFICIENCY 2
SPECIFIC GRANULE DEFICIENCY 2 		disease Disease or Syndrome 2 3 0.600 limited 1.000 1 3 2017 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.400 None 1.000 1 2017 2017
CUI: C4551556
Disease: SPECIFIC GRANULE DEFICIENCY 1
SPECIFIC GRANULE DEFICIENCY 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2017 2017
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		disease Neoplasms Neoplastic Process 385 7 0.300 None 1.000 1 2017 2017
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		disease Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2017 2017
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 0 3
CUI: C0743178
Disease: Intractable diarrhea
Intractable diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 3 0.100 None 0 3
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C1260438
Disease: Delayed separation of umbilical cord
Delayed separation of umbilical cord 		phenotype Pathologic Function 1 3 0.100 None 0 3
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype Finding 62 6 0.100 None 0
CUI: C4022852
Disease: Absent neutrophil specific granules
Absent neutrophil specific granules 		phenotype Finding 1 0.100 None 0
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.100 None 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		phenotype Finding 68 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 88 17 0.100 None 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 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: C0029877
Disease: Ear Inflammation
Ear Inflammation 		disease Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.100 None 0 2