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: 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: 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: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.420 strong 1.000 3 1999 2016
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: 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: 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: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.110 None 1.000 1 2006 2006
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections
group Infections Disease or Syndrome 108 10 0.100 None 1.000 22 1997 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 3 5 2018 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 2 4 2018 2019
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.100 None 1.000 1 1 2019 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 16 2017 2017
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 1.000 1 1 2015 2015
CUI: C0424678
Disease: Lean body mass
Lean body mass
phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0239801
Disease: Blonde hair
Blonde hair
phenotype Finding 13 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 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: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Infections Finding 69 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0