Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1 		0.300 Biomarker phenotype GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245 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: 1000
Gene Symbol: CDH2
CDH2 		0.300 Biomarker phenotype GENOMICS_ENGLAND N-cadherin mediates cortical organization in the mouse brain. 17222817 2007
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		0.100 Biomarker phenotype HPO
Entrez Id: 2108
Gene Symbol: ETFA
ETFA 		0.100 Biomarker phenotype HPO
Entrez Id: 6204
Gene Symbol: RPS10
RPS10 		0.100 Biomarker phenotype HPO
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH 		0.100 Biomarker phenotype HPO
Entrez Id: 6154
Gene Symbol: RPL26
RPL26 		0.100 Biomarker phenotype HPO
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6155
Gene Symbol: RPL27
RPL27 		0.100 Biomarker phenotype HPO
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		0.100 Biomarker phenotype HPO
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		0.100 Biomarker phenotype HPO
Entrez Id: 6232
Gene Symbol: RPS27
RPS27 		0.100 Biomarker phenotype HPO
Entrez Id: 6234
Gene Symbol: RPS28
RPS28 		0.100 Biomarker phenotype HPO
Entrez Id: 51816
Gene Symbol: ADA2
ADA2 		0.100 Biomarker phenotype HPO
Entrez Id: 6210
Gene Symbol: RPS15A
RPS15A 		0.100 Biomarker phenotype HPO
Entrez Id: 6135
Gene Symbol: RPL11
RPL11 		0.100 Biomarker phenotype HPO
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.100 Biomarker phenotype HPO
Entrez Id: 6229
Gene Symbol: RPS24
RPS24 		0.100 Biomarker phenotype HPO
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A 		0.100 Biomarker phenotype HPO
Entrez Id: 90121
Gene Symbol: TSR2
TSR2 		0.100 Biomarker phenotype HPO
Entrez Id: 6141
Gene Symbol: RPL18
RPL18 		0.100 Biomarker phenotype HPO
Entrez Id: 2109
Gene Symbol: ETFB
ETFB 		0.100 Biomarker phenotype HPO