Disease: HYPEREKPLEXIA 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.600 Biomarker disease GENOMICS_ENGLAND A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. 29390050 2018
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.600 GeneticVariation disease UNIPROT ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation. 29659736 2018
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.600 GeneticVariation disease UNIPROT A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. 29390050 2018
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.600 Biomarker disease GENOMICS_ENGLAND Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. 28180185 2017
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.600 CausalMutation disease CLINVAR Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. 28180185 2017
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.600 GeneticVariation disease UNIPROT Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. 28180185 2017
CUI: C4693933
Disease: HYPEREKPLEXIA 4
HYPEREKPLEXIA 4 		0.600 Biomarker disease GENOMICS_ENGLAND