Source: CLINVAR

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: 55663
Gene Symbol: ZNF446
ZNF446
zinc finger protein 446 5.7E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 463
Gene Symbol: ZFHX3
ZFHX3
zinc finger homeobox 3 0.621 0.654 0.45
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 196441
Gene Symbol: ZFC3H1
ZFC3H1
zinc finger C3H1-type containing 0.839 0.115 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 9889
Gene Symbol: ZBED4
ZBED4
zinc finger BED-type containing 4 0.890 0.115 0.51
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 11180
Gene Symbol: WDR6
WDR6
WD repeat domain 6 2.1E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 220001
Gene Symbol: VWCE
VWCE
von Willebrand factor C and EGF domains 0.751 0.231 3.1E-12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 158880
Gene Symbol: USP51
USP51
ubiquitin specific peptidase 51 0.861 0.115 0.13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 85015
Gene Symbol: USP45
USP45
ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 4
Entrez Id: 23358
Gene Symbol: USP24
USP24
ubiquitin specific peptidase 24 0.760 0.231 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 23352
Gene Symbol: UBR4
UBR4
ubiquitin protein ligase E3 component n-recognin 4 0.760 0.269 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 5
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 55253
Gene Symbol: TYW1
TYW1
tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
THO complex 2 0.650 0.538 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
THAP domain containing 11 0.769 0.346 0.83
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1