Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 GermlineCausalMutation ORPHANET Role of TBX1 in human del22q11.2 syndrome. 14585638

2003
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 ChromosomalRearrangement ORPHANET

Entrez Id: 1312
Gene Symbol: COMT
COMT
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.360 ChromosomalRearrangement ORPHANET

Entrez Id: 7290
Gene Symbol: HIRA
HIRA
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.320 ChromosomalRearrangement ORPHANET Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. 15177686

2004
Entrez Id: 7353
Gene Symbol: UFD1
UFD1
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.320 ChromosomalRearrangement ORPHANET

Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.310 Biomarker CTD_human An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. 12223415

2002
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.310 ChromosomalRearrangement ORPHANET

Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.300 GermlineModifyingMutation ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785

2015
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.300 GermlineModifyingMutation ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785

2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.300 GermlineModifyingMutation ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785

2015
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.300 ChromosomalRearrangement ORPHANET