Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50945
Gene Symbol: TBX22
TBX22
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.400 Biomarker GENOMICS_ENGLAND X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. 22784330

2013
Entrez Id: 50945
Gene Symbol: TBX22
TBX22
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.400 Biomarker HPO

Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.320 Biomarker BEFREE SMAD6 mutated in nsRUS was further confirmed by direct Sanger sequencing of SMAD6-coding regions on other unrelated cohorts of nsRUS cases or families. 31138930

2019
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.320 GeneticVariation BEFREE Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 31178591

2019
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.320 Biomarker GENOMICS_ENGLAND SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 31138930

2019
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 GeneticVariation BEFREE Radioulnar synostosis and B-cell deficiency were observed only in patients with mutations affecting a short region in the C-terminal zinc finger domain of EVI1. 29540340

2018
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 Biomarker BEFREE To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. 28882145

2017
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 GeneticVariation BEFREE An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. 25823593

2015
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 Biomarker HPO

Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 Biomarker HPO

Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 Biomarker HPO

Entrez Id: 124583
Gene Symbol: CANT1
CANT1
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 1723
Gene Symbol: DHODH
DHODH
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 4094
Gene Symbol: MAF
MAF
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 78989
Gene Symbol: COLEC11
COLEC11
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO

Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker HPO