Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55663
Gene Symbol: ZNF446
ZNF446
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 463
Gene Symbol: ZFHX3
ZFHX3
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 196441
Gene Symbol: ZFC3H1
ZFC3H1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 9889
Gene Symbol: ZBED4
ZBED4
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 11180
Gene Symbol: WDR6
WDR6
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 220001
Gene Symbol: VWCE
VWCE
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 158880
Gene Symbol: USP51
USP51
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 85015
Gene Symbol: USP45
USP45
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 85015
Gene Symbol: USP45
USP45
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 23358
Gene Symbol: USP24
USP24
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 23352
Gene Symbol: UBR4
UBR4
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 55253
Gene Symbol: TYW1
TYW1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016