Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		0.110 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 Biomarker disease HPO
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.110 Biomarker disease HPO
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.110 Biomarker disease HPO
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		0.110 Biomarker disease HPO
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.110 Biomarker disease HPO
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.110 Biomarker disease HPO
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.110 Biomarker disease HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.110 Biomarker disease HPO
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		0.110 Biomarker disease HPO
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation disease CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation disease CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		0.100 CausalMutation disease CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 CausalMutation disease CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 GeneticVariation disease CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 CausalMutation disease CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.100 CausalMutation disease CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172 2009
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.100 CausalMutation disease CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815 2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.100 CausalMutation disease CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.100 CausalMutation disease CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.100 CausalMutation disease CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882 2007