Disease: SNIJDERS BLOK-CAMPEAU SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.600 CausalMutation disease CLINVAR A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 29463886 2019
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.600 GeneticVariation disease UNIPROT A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 29463886 2019
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 29463886 2019
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.600 CausalMutation disease CLINVAR CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 30397230 2018
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.600 GeneticVariation disease CLINVAR CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 30397230 2018
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.600 GeneticVariation disease UNIPROT CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 30397230 2018