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: 83452
Gene Symbol: RAB33B
RAB33B
RAB33B, member RAS oncogene family 0.821 0.192 0.68
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 9862
Gene Symbol: MED24
MED24
mediator complex subunit 24 0.931 0.192 3.3E-11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 10443
Gene Symbol: N4BP2L2
N4BP2L2
NEDD4 binding protein 2 like 2 0.780 0.231 1.3E-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: 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: 2564
Gene Symbol: GABRE
GABRE
gamma-aminobutyric acid type A receptor subunit epsilon 0.839 0.231 1.8E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 80152
Gene Symbol: CENPT
CENPT
centromere protein T 0.821 0.231 5.8E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 84265
Gene Symbol: POLR3GL
POLR3GL
RNA polymerase III subunit G like 0.839 0.231 2.3E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 23024
Gene Symbol: PDZRN3
PDZRN3
PDZ domain containing ring finger 3 0.792 0.269 0.98
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
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: 5717
Gene Symbol: PSMD11
PSMD11
proteasome 26S subunit, non-ATPase 11 0.839 0.269 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 80201
Gene Symbol: HKDC1
HKDC1
hexokinase domain containing 1 0.743 0.269 1.6E-14
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 3
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 3 2019 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 4 2019 2019
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
PTCHD1 antisense RNA (head to head) 0.839 0.308
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 22821
Gene Symbol: RASA3
RASA3
RAS p21 protein activator 3 0.769 0.308 1.9E-10
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 57644
Gene Symbol: MYH7B
MYH7B
myosin heavy chain 7B 0.792 0.308 4.3E-46
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 5834
Gene Symbol: PYGB
PYGB
glycogen phosphorylase B 0.792 0.308 1.4E-14
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 84376
Gene Symbol: HOOK3
HOOK3
hook microtubule tethering protein 3 0.780 0.308 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 5007
Gene Symbol: OSBP
OSBP
oxysterol binding protein 0.705 0.346 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 55072
Gene Symbol: RNF31
RNF31
ring finger protein 31 0.736 0.346 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
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
Entrez Id: 28981
Gene Symbol: IFT81
IFT81
intraflagellar transport 81 0.700 0.385 9.1E-12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1