Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		0.400 Biomarker phenotype GENOMICS_ENGLAND Small 4p16.3 deletions: Three additional patients and review of the literature. 30244530 2018
Entrez Id: 1644
Gene Symbol: DDC
DDC 		0.300 Biomarker phenotype GENOMICS_ENGLAND Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. 19172410 2009
Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, and infantile spasms . 32004447 2020
Entrez Id: 5081
Gene Symbol: PAX7
PAX7 		0.300 Biomarker phenotype GENOMICS_ENGLAND Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. 31092906 2019
Entrez Id: 4047
Gene Symbol: LSS
LSS 		0.300 Biomarker phenotype GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
Entrez Id: 26173
Gene Symbol: INTS1
INTS1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Targeted disruption of the murine large nuclear KIAA1440/Ints1 protein causes growth arrest in early blastocyst stage embryos and eventual apoptotic cell death. 17544522 2007
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		0.300 Biomarker phenotype GENOMICS_ENGLAND Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. 25078763 2014
Entrez Id: 318
Gene Symbol: NUDT2
NUDT2 		0.300 Biomarker phenotype GENOMICS_ENGLAND A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children. 30059600 2018
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 30595372 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		0.400 Biomarker phenotype HPO
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		0.400 Biomarker phenotype HPO
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		0.400 Biomarker phenotype HPO
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.110 Biomarker phenotype HPO
Entrez Id: 9581
Gene Symbol: PREPL
PREPL 		0.110 Biomarker phenotype HPO
Entrez Id: 5250
Gene Symbol: SLC25A3
SLC25A3 		0.110 Biomarker phenotype HPO
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		0.110 Biomarker phenotype HPO
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.110 Biomarker phenotype HPO
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.100 Biomarker phenotype HPO
Entrez Id: 23189
Gene Symbol: KANK1
KANK1 		0.100 Biomarker phenotype HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.100 Biomarker phenotype HPO
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.100 Biomarker phenotype HPO
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		0.100 Biomarker phenotype HPO
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.100 Biomarker phenotype HPO