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: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 10 0.910 None 1.000 2 10 2010 2018
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 7 0.610 None 1.000 1 7 2019 2019
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.400 None 0 2
CUI: C0018036
Disease: Hypertension, Goldblatt
Hypertension, Goldblatt
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.300 None 1.000 1 2019 2019
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 17 1 0.120 None 1.000 2 2010 2013
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 4 4 2008 2019
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 2 2 2008 2010
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2015 2015
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2015 2015
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses
phenotype Finding 15 0.100 None 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses
phenotype Finding 15 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 2
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen
phenotype Finding 25 2 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 42 19 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face
phenotype Finding 83 7 0.100 None 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone
disease Anatomical Abnormality 4 0.100 None 0
Disproportionate short-limb short stature
phenotype Finding 35 5 0.100 None 0 2
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
Disproportionate short-trunk short stature
phenotype Finding 19 2 0.100 None 0