×
Entrez Id:
23363
Gene Symbol:
OBSL1
OBSL1
0.100
GeneticVariation
phenotype
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518
2019
×
Entrez Id:
7355
Gene Symbol:
SLC35A2
SLC35A2
0.100
GeneticVariation
phenotype
CLINVAR
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
30817854
2019
×
Entrez Id:
49855
Gene Symbol:
SCAPER
SCAPER
0.100
CausalMutation
phenotype
CLINVAR
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
30723319
2019
×
Entrez Id:
89953
Gene Symbol:
KLC4
KLC4
0.100
GeneticVariation
phenotype
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518
2019
×
Entrez Id:
9820
Gene Symbol:
CUL7
CUL7
0.100
GeneticVariation
phenotype
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518
2019
×
Entrez Id:
513
Gene Symbol:
ATP5F1D
ATP5F1D
0.100
CausalMutation
phenotype
CLINVAR
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
29478781
2018
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.100
CausalMutation
phenotype
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822
2018
×
Entrez Id:
25
Gene Symbol:
ABL1
ABL1
0.100
CausalMutation
phenotype
CLINVAR
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
28288113
2017
×
Entrez Id:
816
Gene Symbol:
CAMK2B
CAMK2B
0.100
CausalMutation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
23498
Gene Symbol:
HAAO
HAAO
0.100
CausalMutation
phenotype
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876
2017
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.100
CausalMutation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
0.100
GeneticVariation
phenotype
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
84910
Gene Symbol:
TMEM87B
TMEM87B
0.100
GeneticVariation
phenotype
CLINVAR
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
27148590
2016
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
0.100
CausalMutation
phenotype
CLINVAR
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
26350204
2015
×
Entrez Id:
1859
Gene Symbol:
DYRK1A
DYRK1A
0.100
GeneticVariation
phenotype
CLINVAR
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
25944381
2015
×
Entrez Id:
1859
Gene Symbol:
DYRK1A
DYRK1A
0.100
CausalMutation
phenotype
CLINVAR
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
25944381
2015
×
Entrez Id:
23233
Gene Symbol:
EXOC6B
EXOC6B
0.100
GeneticVariation
phenotype
CLINVAR
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
25256811
2014
×
Entrez Id:
123263
Gene Symbol:
MTFMT
MTFMT
0.100
CausalMutation
phenotype
CLINVAR
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
24461907
2014
×
Entrez Id:
5476
Gene Symbol:
CTSA
CTSA
0.100
CausalMutation
phenotype
CLINVAR
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
24769197
2014
×
Entrez Id:
23233
Gene Symbol:
EXOC6B
EXOC6B
0.100
GeneticVariation
phenotype
CLINVAR
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
23422942
2013
×
Entrez Id:
57492
Gene Symbol:
ARID1B
ARID1B
0.100
CausalMutation
phenotype
CLINVAR
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
22426309
2012
×
Entrez Id:
8036
Gene Symbol:
SHOC2
SHOC2
0.100
GeneticVariation
phenotype
CLINVAR
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
22528146
2012
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
20883824
2011
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.100
CausalMutation
phenotype
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
×
Entrez Id:
123263
Gene Symbol:
MTFMT
MTFMT
0.100
CausalMutation
phenotype
CLINVAR
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
21907147
2011