Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		0.300 Biomarker phenotype GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
Entrez Id: 23476
Gene Symbol: BRD4
BRD4 		0.300 Biomarker phenotype GENOMICS_ENGLAND Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome. 30302754 2019
Entrez Id: 57700
Gene Symbol: FAM160B1
FAM160B1 		0.300 Biomarker phenotype GENOMICS_ENGLAND FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 31353455 2019
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: 2222
Gene Symbol: FDFT1
FDFT1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 29909962 2018
Entrez Id: 4330
Gene Symbol: MN1
MN1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292 2005
Entrez Id: 200424
Gene Symbol: TET3
TET3 		0.300 Biomarker phenotype GENOMICS_ENGLAND
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: 815
Gene Symbol: CAMK2A
CAMK2A 		0.100 GeneticVariation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.100 Biomarker phenotype HPO
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		0.100 Biomarker phenotype HPO
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		0.100 Biomarker phenotype HPO
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.100 Biomarker phenotype HPO
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.100 Biomarker phenotype HPO
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.100 Biomarker phenotype HPO
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.100 Biomarker phenotype HPO
Entrez Id: 1644
Gene Symbol: DDC
DDC 		0.100 Biomarker phenotype HPO
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.100 CausalMutation phenotype CLINVAR