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.
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
disease Disease or Syndrome 1 2 0.700 None 1.000 2 2 2014 2014
CUI: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2017 2017
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia
phenotype Disease or Syndrome 12 0.010 None 1.000 1 1998 1998
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular
disease Disease or Syndrome 4 8 0.010 None 1.000 1 2002 2002
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2019 2019
Refractory Acute Lymphoblastic Leukemia
disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities
phenotype Finding 33 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 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: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
phenotype Finding 59 15 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 85 7 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system
disease Anatomical Abnormality 16 0.100 None 0
Generalized hypopigmentation of hair
disease Disease or Syndrome 6 0.100 None 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin
phenotype Anatomical Abnormality 25 0.100 None 0
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
phenotype Finding 1 2 0.100 None 0 2
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2011 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2004 2017