Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4191
Gene Symbol: MDH2
MDH2 		0.100 CausalMutation phenotype CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 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: 2186
Gene Symbol: BPTF
BPTF 		0.100 GeneticVariation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 CausalMutation phenotype CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation phenotype CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 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
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation phenotype CLINVAR Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. 26834045 2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		0.100 CausalMutation phenotype CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064 2016
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation phenotype CLINVAR Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. 24668509 2014
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		0.100 CausalMutation phenotype CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		0.100 CausalMutation phenotype CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607 2013
Entrez Id: 6607
Gene Symbol: SMN2
SMN2 		0.100 CausalMutation phenotype CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607 2013
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		0.100 CausalMutation phenotype CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010