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: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3
disease Disease or Syndrome 1 6 0.600 strong 1.000 2 6 2016 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
disease Disease or Syndrome 49 13 0.520 None 1.000 3 2017 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.420 strong 1.000 2 1 2016 2018
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.400 strong 1.000 2 2016 2018
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes
disease Disease or Syndrome 41 0.300 None 0
CUI: C3808553
Disease: Bone marrow failure syndrome 1
Bone marrow failure syndrome 1
disease Disease or Syndrome 4 2 0.300 None 0
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2
disease Disease or Syndrome 4 2 0.300 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
Inherited bone marrow failure syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 11 3 0.100 None 1.000 1 3 2016 2016
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue
phenotype Finding 25 2 0.100 None 0 1
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1442837
Disease: Myocardial necrosis
Myocardial necrosis
disease Cardiovascular Diseases Disease or Syndrome 30 2 0.100 None 0
Proximal femoral metaphyseal irregularity
phenotype Finding 7 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping
phenotype Finding 10 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 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 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0426789
Disease: Short thorax
Short thorax
phenotype Finding 51 8 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0