Rett syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Atypical Rett syndrome 3095 CDKL5 Causal Pathogenic evidence from ClinVar - ClinVar
GABBR2 Causal Pathogenic evidence from ClinVar - ClinVar
MECP2 Causal Pathogenic evidence from ClinVar - ClinVar
NTNG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STXBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Rett Syndrome C0035372 CDKL5 Causal Pathogenic evidence from ClinVar 19241098 ClinVar
GABBR2 Causal Pathogenic evidence from ClinVar 28856709, 29377213 ClinVar
MECP2 Causal Pathogenic evidence from ClinVar 1105898, 1402105, 2460487, 10508514, 10577905, 10745042, 10767337, 10805343, 10814718, 10814719, 10852707, 10854091, 10944834, 10944854, 10991688, 10991689, 11007980, 11055848, 11055898, 11058114, 11214906, 11241840, 11242118, 11245712, 11269512, 11283201, 11283202, 11309679, 11313756, 11313764, 11331619, 11376998, 11402105, 11462237, 11469283, 11524741, 11706982, 11738860, 11738879, 11738883, 11805248, 11885030, 11896459, 11913564, 11960578, 12065946, 12075485, 12161600, 12180070, 12325033, 12418965, 12567420, 12746405, 12746406, 12770674, 12872250, 12872251, 12966522, 12966523, 14536082, 14593183, 14598336, 15034579, 15057977, 15173251, 15526954, 15557528, 15737703, 16077729, 16182490, 16183801, 16376510, 16473305, 16629931, 16670375, 17084570, 17089071, 17142618, 17289941, 17296936, 17387578, 17433737, 17881312, 17914728, 17986102, 18021529, 18174548, 18332345, 18334558, 18337588, 18499664, 18652533, 18842453, 18989701, 19000991, 19133691, 19190538, 19217433, 19309269, 19371229, 19442733, 19552836, 1955930 ClinVar
RHOBTB2 Causal Pathogenic evidence from ClinVar - ClinVar
EGR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19000991 -
PTPN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26214522 -
Rett Syndrome, Atypical C2748910 CDKL5 Causal Pathogenic evidence from ClinVar 22196487 ClinVar
FOXG1 Causal Pathogenic evidence from ClinVar 18571142, 19578037, 19623215 ClinVar
GABBR2 Causal Pathogenic evidence from ClinVar 28856709 ClinVar
MECP2 Causal Pathogenic evidence from ClinVar - ClinVar
NTNG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17903671 -
STXBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25714420, 25914188 -
Rett syndrome 778 MECP2 Causal Pathogenic evidence from ClinVar - ClinVar