Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.400 Biomarker CTD_human

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: 1586
Gene Symbol: CYP17A1
CYP17A1
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency, is reported. 11158067

2001
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. 8075637

1994
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 9758445

1998
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GermlineCausalMutation ORPHANET

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). 9709959

1998
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 Biomarker CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675

2015
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 8550739

1996
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 Biomarker GENOMICS_ENGLAND

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. 26545797

2016
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. 15746153

2005
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Autism spectrum features in Smith-Magenis syndrome. 20981775

2010
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. 17273973

2007
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. 17517686

2007
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. 19752160

2010
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human A functional network module for Smith-Magenis syndrome. 19236431

2009
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. 15788730

2005