Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		0.300 Biomarker phenotype GENOMICS_ENGLAND The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. 29904178 2018
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.300 Biomarker phenotype GENOMICS_ENGLAND A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. 26163108 2015
Entrez Id: 200424
Gene Symbol: TET3
TET3 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 GeneticVariation phenotype CLINVAR Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum. 30217754 2019
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: 815
Gene Symbol: CAMK2A
CAMK2A 		0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4577
Gene Symbol: TRNV
TRNV 		0.100 Biomarker phenotype HPO
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.100 Biomarker phenotype HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker phenotype HPO
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2 		0.100 Biomarker phenotype HPO
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		0.100 Biomarker phenotype HPO
Entrez Id: 4535
Gene Symbol: ND1
ND1 		0.100 Biomarker phenotype HPO
Entrez Id: 367
Gene Symbol: AR
AR 		0.100 Biomarker phenotype HPO
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		0.100 Biomarker phenotype HPO
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		0.100 Biomarker phenotype HPO
Entrez Id: 9487
Gene Symbol: PIGL
PIGL 		0.100 Biomarker phenotype HPO
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA 		0.100 Biomarker phenotype HPO
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.100 Biomarker phenotype HPO
Entrez Id: 4256
Gene Symbol: MGP
MGP 		0.100 Biomarker phenotype HPO
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.100 Biomarker phenotype HPO
Entrez Id: 3081
Gene Symbol: HGD
HGD 		0.100 Biomarker phenotype HPO
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.100 Biomarker phenotype HPO
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 Biomarker phenotype HPO