Source: GENOMICS_ENGLAND

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: 9451
Gene Symbol: EIF2AK3
EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3 0.501 0.808 2.8E-03
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.511 0.692 0.67
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
Wnt family member 5A 0.443 0.808 0.99
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
tubulin folding cofactor E 0.575 0.692 1.7E-08
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 limited 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: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
cullin 7 0.633 0.500 2.6E-21
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 3977
Gene Symbol: LIFR
LIFR
LIF receptor subunit alpha 0.523 0.808 1.5E-13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.528 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 limited 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
cathepsin K 0.497 0.808 3.1E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1
collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 limited 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0