OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
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: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 1.000 1 1 2019 2019
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 147 27 0.100 None 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		phenotype Finding 50 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 1.000 1 2 2019 2019
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
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 0.300 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.120 None 1.000 2 2013 2017
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype Finding 25 4 0.100 None 1.000 1 3 2019 2019
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 105 3 0.100 None 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 1.000 1 1 2019 2019
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		phenotype Finding 13 0.100 None 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype Finding 14 0.100 None 0
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		disease Anatomical Abnormality 15 2 0.100 None 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		phenotype Finding 10 0.100 None 0