Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
0.100 CausalMutation phenotype CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
0.100 CausalMutation phenotype CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 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: 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: 7701
Gene Symbol: ZNF142
ZNF142
0.100 GeneticVariation phenotype CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918 2019
Entrez Id: 54965
Gene Symbol: PIGX
PIGX
0.100 CausalMutation phenotype CLINVAR Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 29127258 2018
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
0.100 CausalMutation phenotype CLINVAR Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
0.100 CausalMutation phenotype CLINVAR De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 29961568 2018
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
0.100 CausalMutation phenotype CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
Entrez Id: 84984
Gene Symbol: CEP19
CEP19
0.100 CausalMutation phenotype CLINVAR Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 29127258 2018
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
0.100 GeneticVariation phenotype CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
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: 57459
Gene Symbol: GATAD2B
GATAD2B
0.100 CausalMutation phenotype CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 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: 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: 816
Gene Symbol: CAMK2B
CAMK2B
0.100 GeneticVariation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 1630
Gene Symbol: DCC
DCC
0.100 CausalMutation phenotype CLINVAR Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
0.100 GeneticVariation phenotype CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
0.100 CausalMutation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.100 CausalMutation phenotype CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
0.100 CausalMutation phenotype CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.100 CausalMutation phenotype CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910 2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
0.100 CausalMutation phenotype CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781 2016