Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.510 Biomarker disease CTD_human Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. 17000704 2006
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.510 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.510 Biomarker disease CTD_human Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 15190012 2004
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.510 GeneticVariation disease BEFREE We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.510 GermlineCausalMutation disease ORPHANET Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.510 ChromosomalRearrangement disease ORPHANET
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.500 Biomarker disease CTD_human Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. 8886163 1996
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.500 ChromosomalRearrangement disease ORPHANET
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8 		0.310 AlteredExpression disease BEFREE The expression profile of Dgcr8 in developing mouse embryos is consistent with the clinical phenotypes including congenital heart defects and palate clefts associated with DiGeorge syndrome (DGS)/conotruncal anomaly face syndrome (CAFS)/velocardiofacial syndrome (VCFS), which are caused by monoallelic microdeletion of chromosome 22q11.2. 12705904 2003
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8 		0.310 Biomarker disease CTD_human
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
Entrez Id: 6239
Gene Symbol: RREB1
RREB1 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.300 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
Entrez Id: 1399
Gene Symbol: CRKL
CRKL 		0.300 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		0.300 ChromosomalRearrangement disease ORPHANET Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. 15177686 2004
Entrez Id: 7353
Gene Symbol: UFD1
UFD1 		0.300 ChromosomalRearrangement disease ORPHANET
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		0.300 ChromosomalRearrangement disease ORPHANET
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		0.300 ChromosomalRearrangement disease ORPHANET
Entrez Id: 1714
Gene Symbol: DGCR
DGCR 		0.300 Biomarker disease CTD_human
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2 		0.300 Biomarker disease CTD_human
Entrez Id: 8220
Gene Symbol: ESS2
ESS2 		0.300 Biomarker disease CTD_human
Entrez Id: 8214
Gene Symbol: DGCR6
DGCR6 		0.300 Biomarker disease CTD_human
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8 		0.010 AlteredExpression disease BEFREE CAFs-conditioned media increased the growth of HPAF-CD11 but not HPAF cells and increased CXCL8 levels highly in HPAF-CD11 and slightly in HPAF. 31025289 2019
Entrez Id: 158833
Gene Symbol: AWAT1
AWAT1 		0.010 GeneticVariation disease BEFREE No hemizygosity was found in three (2%) of the patients with CAFS by FISH using nine DiGeorge critical region probes and a SD1OP1 probe (DGA II locus). 9737780 1998