Disease: Rett Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 Biomarker disease GENOMICS_ENGLAND "Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""." 29377213 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 Biomarker disease GENOMICS_ENGLAND GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 Biomarker disease BEFREE GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 CausalMutation disease CLINVAR