Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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