SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
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: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 57 0.740 None 1.000 27 57 1994 2018
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 3 0.620 strong 1.000 3 3 1997 2015
CUI: C1856923
Disease: Double-layered patella
Double-layered patella 		phenotype Finding 1 0.100 None 0
CUI: C1857255
Disease: Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 1 0.400 strong 0 1
CUI: C1857263
Disease: Hypertrophic auricular cartilage
Hypertrophic auricular cartilage 		phenotype Finding 1 0.100 None 0
CUI: C1862496
Disease: Facial midline hemangioma
Facial midline hemangioma 		disease Neoplastic Process 1 0.100 None 0
CUI: C4021530
Disease: Laryngeal cartilage malformation
Laryngeal cartilage malformation 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023720
Disease: Cystic lesions of the pinnae
Cystic lesions of the pinnae 		disease Disease or Syndrome 1 0.100 None 0
CUI: C4025052
Disease: Dumbbell-shaped femur
Dumbbell-shaped femur 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1855608
Disease: Costal cartilage calcification
Costal cartilage calcification 		phenotype Finding 2 0.100 None 0
CUI: C4022909
Disease: Excessive femoral anteversion
Excessive femoral anteversion 		phenotype Finding 2 0.100 None 0
CUI: C0158489
Disease: Acquired clubfoot
Acquired clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 3 2 0.010 None 1.000 1 1 2001 2001
CUI: C0431887
Disease: Hitch-hiker thumb
Hitch-hiker thumb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.100 None 0
CUI: C0575170
Disease: Cervical kyphosis
Cervical kyphosis 		phenotype Musculoskeletal Diseases Finding 3 0.100 None 0
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum 		phenotype Finding 3 0.100 None 0
CUI: C1856922
Disease: Limited elbow flexion
Limited elbow flexion 		phenotype Finding 3 0.100 None 0
CUI: C3806280
Disease: Laryngotracheal stenosis
Laryngotracheal stenosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 3 0.100 None 0
CUI: C0001079
Disease: Achondrogenesis
Achondrogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 0.050 None 1.000 5 1997 2019
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 24 0.010 None 1.000 1 2019 2019
CUI: C1299888
Disease: laminitis
laminitis 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1856920
Disease: Hypoplasia of the femoral head
Hypoplasia of the femoral head 		phenotype Finding 4 0.100 None 0
CUI: C1866689
Disease: Short sacroiliac notch
Short sacroiliac notch 		phenotype Finding 4 0.100 None 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 34 0.790 None 1.000 27 34 1996 2015
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 34 0.780 None 1.000 27 34 1996 2019