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: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		disease Disease or Syndrome 1 4 0.700 None 1.000 3 4 2011 2011
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.650 moderate 1.000 9 5 2010 2019
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 14 0.300 strong 1.000 1 2011 2011
CUI: C0005910
Disease: Body Weight
Body Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.300 None 1.000 1 2019 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2017 2017
CUI: C0523912
Disease: Testosterone measurement
Testosterone measurement 		phenotype Laboratory Procedure 14 23 0.100 None 1.000 1 1 2019 2019
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		disease Congenital Abnormality 113 5 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 33 4 0.100 None 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 20 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 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: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype Immune System Diseases Finding 30 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.100 None 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0