Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 31607425 2019
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: 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: 51780
Gene Symbol: KDM3B
KDM3B 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. 30929739 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: 54517
Gene Symbol: PUS7
PUS7 		0.400 Biomarker phenotype GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.400 Biomarker phenotype GENOMICS_ENGLAND Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285 2019
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7 		0.300 Biomarker phenotype GENOMICS_ENGLAND Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. 29878199 2018
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: 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: 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: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.400 Biomarker phenotype GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
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: 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: 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: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.400 Biomarker phenotype GENOMICS_ENGLAND RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 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: 5476
Gene Symbol: CTSA
CTSA 		0.100 CausalMutation phenotype CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014