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: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease Disease or Syndrome 49 13 0.520 None 1.000 3 2017 2019
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.400 strong 1.000 2 2016 2018
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: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F 		phenotype Finding 9 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: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 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: C1836320
Disease: Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity 		phenotype Finding 7 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		phenotype Finding 10 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 0.100 None 0
CUI: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		phenotype Finding 3 0.100 None 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		phenotype Finding 7 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype Finding 25 0.100 None 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		phenotype Finding 8 0.100 None 0