Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 3313
Gene Symbol: HSPA9
HSPA9
heat shock protein family A (Hsp70) member 9 0.502 0.885 0.97
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
latent transforming growth factor beta binding protein 3 0.564 0.846 0.69
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
matrilin 3 0.644 0.385 1.4E-08
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
transmembrane protein 165 0.711 0.385 0.28
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 84695
Gene Symbol: LOXL3
LOXL3
lysyl oxidase like 3 0.666 0.462 2.7E-13
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
exostosin like glycosyltransferase 3 0.599 0.731 2.5E-05
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3 0.501 0.808 2.8E-03
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease 0.100 None 0 0