Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50945
Gene Symbol: TBX22
TBX22 		0.400 Biomarker disease 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 		0.400 Biomarker disease HPO
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6 		0.320 Biomarker disease 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 		0.320 GeneticVariation disease BEFREE Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 31178591 2019
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6 		0.320 Biomarker disease GENOMICS_ENGLAND SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 31138930 2019
Entrez Id: 2122
Gene Symbol: MECOM
MECOM 		0.110 GeneticVariation disease 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 		0.110 Biomarker disease 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 		0.110 GeneticVariation disease 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 		0.110 Biomarker disease HPO
Entrez Id: 2122
Gene Symbol: MECOM
MECOM 		0.110 Biomarker disease HPO
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7 		0.110 Biomarker disease HPO
Entrez Id: 124583
Gene Symbol: CANT1
CANT1 		0.100 Biomarker disease HPO
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 Biomarker disease HPO
Entrez Id: 1723
Gene Symbol: DHODH
DHODH 		0.100 Biomarker disease HPO
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I 		0.100 Biomarker disease HPO
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.100 Biomarker disease HPO
Entrez Id: 324
Gene Symbol: APC
APC 		0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 Biomarker disease HPO
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 Biomarker disease HPO
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		0.100 Biomarker disease HPO
Entrez Id: 78989
Gene Symbol: COLEC11
COLEC11 		0.100 Biomarker disease HPO
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		0.100 Biomarker disease HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.100 Biomarker disease HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 Biomarker disease HPO
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		0.100 Biomarker disease HPO