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: 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: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
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: 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: 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: 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: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.566 0.615 4.2E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 23213
Gene Symbol: SULF1
SULF1
sulfatase 1 0.585 0.538 1.4E-03
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: 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: 23169
Gene Symbol: SLC35D1
SLC35D1
solute carrier family 35 member D1 0.736 0.385 3.6E-04
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: 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: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B
SH3 and PX domains 2B 0.631 0.577 4.2E-03
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: 4920
Gene Symbol: ROR2
ROR2
receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0