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: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 8 0.610 None 0.750 4 8 2009 2015
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: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 11 11 0.200 None 1.000 11 3 2009 2019
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: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 1.000 1 2 2019 2019
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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 1 3 2019 2019
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 1.000 1 3 2019 2019
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 1.000 1 1 2019 2019
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 1.000 1 1 2019 2019
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 1.000 1 2 2019 2019
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype Finding 35 5 0.100 None 1.000 1 2 2019 2019
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 1.000 1 2 2019 2019
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 1.000 1 2 2019 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
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: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 1.000 1 1 2019 2019
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype Finding 25 4 0.100 None 1.000 1 3 2019 2019
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 1.000 1 2 2019 2019
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype Finding 13 4 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype Finding 152 6 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 105 3 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0