Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9652
Gene Symbol: TTC37
TTC37 		0.400 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 28292286 2017
Entrez Id: 9652
Gene Symbol: TTC37
TTC37 		0.400 Biomarker phenotype HPO
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 16715098 2006
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.100 GeneticVariation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		0.100 GeneticVariation phenotype CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA 		0.100 CausalMutation phenotype CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018
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: 56006
Gene Symbol: SMG9
SMG9 		0.100 GeneticVariation phenotype CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
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: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 CausalMutation phenotype CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
Entrez Id: 2817
Gene Symbol: GPC1
GPC1 		0.100 Biomarker phenotype HPO
Entrez Id: 51185
Gene Symbol: CRBN
CRBN 		0.100 Biomarker phenotype HPO
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		0.100 Biomarker phenotype HPO
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1725
Gene Symbol: DHPS
DHPS 		0.100 Biomarker phenotype HPO
Entrez Id: 3052
Gene Symbol: HCCS
HCCS 		0.100 Biomarker phenotype HPO
Entrez Id: 444
Gene Symbol: ASPH
ASPH 		0.100 Biomarker phenotype HPO
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		0.100 Biomarker phenotype HPO
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3 		0.100 Biomarker phenotype HPO
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR