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: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx 		phenotype Finding 6 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C1855608
Disease: Costal cartilage calcification
Costal cartilage calcification 		phenotype Finding 2 0.100 None 0
CUI: C1856920
Disease: Hypoplasia of the femoral head
Hypoplasia of the femoral head 		phenotype Finding 4 0.100 None 0
CUI: C1856922
Disease: Limited elbow flexion
Limited elbow flexion 		phenotype Finding 3 0.100 None 0
CUI: C1856923
Disease: Double-layered patella
Double-layered patella 		phenotype Finding 1 0.100 None 0
CUI: C1857263
Disease: Hypertrophic auricular cartilage
Hypertrophic auricular cartilage 		phenotype Finding 1 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		phenotype Finding 11 3 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis 		phenotype Finding 6 0.100 None 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		phenotype Finding 16 0.100 None 0
CUI: C1862496
Disease: Facial midline hemangioma
Facial midline hemangioma 		disease Neoplastic Process 1 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 211 25 0.100 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype Finding 26 7 0.100 None 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype Finding 32 3 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1866689
Disease: Short sacroiliac notch
Short sacroiliac notch 		phenotype Finding 4 0.100 None 0
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening 		phenotype Finding 7 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3553084
Disease: Bilateral cleft palate
Bilateral cleft palate 		phenotype Finding 11 1 0.100 None 0