×
Entrez Id:
1584
Gene Symbol:
CYP11B1
CYP11B1
11-Beta-hydroxylase deficiency
0.400
Biomarker
CTD_human
×
Entrez Id:
6660
Gene Symbol:
SOX5
SOX5
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
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
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
14q11.2 microduplication syndrome
0.300
ChromosomalRearrangement
ORPHANET
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
14q12 microdeletion syndrome
0.300
ChromosomalRearrangement
ORPHANET
×
Entrez Id:
25942
Gene Symbol:
SIN3A
SIN3A
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
16q24.3 microdeletion syndrome
0.300
ChromosomalRearrangement
ORPHANET
×
Entrez Id:
1586
Gene Symbol:
CYP17A1
CYP17A1
17,20-Lyase Deficiency, Isolated
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
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
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
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
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GermlineCausalMutation
ORPHANET
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
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
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
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
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
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
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
17p11.2 Monosomy
0.300
Biomarker
CTD_human
Autism spectrum features in Smith-Magenis syndrome.
20981775
2010
×
Entrez Id:
10743
Gene Symbol:
RAI1
RAI1
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
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
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
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
17p11.2 Monosomy
0.300
Biomarker
CTD_human
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
15788730
2005