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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 10 0.940 None 1.000 18 10 1981 2017
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 22 1 0.210 None 1.000 10 1981 2020
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.500 strong 0.963 27 4 1997 2020
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		group Infections Disease or Syndrome 108 10 0.100 None 1.000 22 1997 2019
CUI: C0085581
Disease: Restrictive lung disease
Restrictive lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 13 0.010 None 1.000 1 1998 1998
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.320 strong 1.000 3 1999 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.420 strong 1.000 3 1999 2016
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.020 None 1.000 2 1999 2013
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 9 10 0.010 None 1.000 1 2000 2000
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.010 None 1.000 1 2000 2000
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2000 2000
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 1 0.020 None 1.000 2 2001 2003
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.050 None 1.000 5 2002 2018
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.150 None 1.000 5 2002 2018
CUI: C0001916
Disease: Albinism
Albinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 27 0.140 None 1.000 4 2002 2016
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		disease Disease or Syndrome 5 7 0.010 None < 0.001 1 2002 2002
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.040 None 0.750 4 2005 2019
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.080 None 1.000 8 2006 2020
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 117 13 0.050 None 1.000 5 2006 2020
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.020 None 0.500 2 2006 2017