Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322

2019
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353

2011
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262

2011
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262

2011
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353

2011
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR

Entrez Id: 6660
Gene Symbol: SOX5
SOX5
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR

Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR

Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR