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: 100289211
Gene Symbol: LINC00624
LINC00624
long intergenic non-protein coding RNA 624 1.000 0.077
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 100996295
Gene Symbol: DNAH17-AS1
DNAH17-AS1
DNAH17 antisense RNA 1 0.931 0.077 8.4E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 80267
Gene Symbol: EDEM3
EDEM3
ER degradation enhancing alpha-mannosidase like protein 3 0.931 0.154 2.5E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
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: 9909
Gene Symbol: DENND4B
DENND4B
DENN domain containing 4B 0.931 0.077 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 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: 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: 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: 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: 1047
Gene Symbol: CLGN
CLGN
calmegin 0.839 0.115 1.3E-11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 3
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: 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: 56984
Gene Symbol: PSMG2
PSMG2
proteasome assembly chaperone 2 0.839 0.115 2.4E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 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: 8532
Gene Symbol: CPZ
CPZ
carboxypeptidase Z 0.839 0.154 8.8E-36
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 8632
Gene Symbol: DNAH17
DNAH17
dynein axonemal heavy chain 17 0.839 0.154 2.0E-63
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 124401
Gene Symbol: ANKS3
ANKS3
ankyrin repeat and sterile alpha motif domain containing 3 0.821 0.192 1.9E-07
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: 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: 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: 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: 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