Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. 22290657

2012
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		0.340 ChromosomalRearrangement ORPHANET Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. 28407409

2017
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		0.310 ChromosomalRearrangement ORPHANET Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. 17220210

2007
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		0.300 ChromosomalRearrangement ORPHANET

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		0.300 ChromosomalRearrangement ORPHANET Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GermlineCausalMutation ORPHANET

Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. 22003227

2011
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. 21114665

2011
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
CUI: C4707828
Disease: 1p31p32 microdeletion syndrome
1p31p32 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects. 24462883

2014
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. 28283832

2017
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		0.600 GermlineCausalMutation ORPHANET Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. 24847004

2014
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		0.800 GermlineCausalMutation ORPHANET Adenine phosphoribosyltransferase deficiency. 22700886

2012
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GermlineCausalMutation ORPHANET DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GermlineCausalMutation ORPHANET Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
Entrez Id: 650
Gene Symbol: BMP2
BMP2
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. 21671386

2011
Entrez Id: 650
Gene Symbol: BMP2
BMP2
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		0.300 ChromosomalRearrangement ORPHANET 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. 18812404

2009
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: 7353
Gene Symbol: UFD1
UFD1
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.320 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: 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