CXXC1, CXXC finger protein 1, 30827

N. diseases: 15; N. variants: 0
Disease: Rett Syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in Methyl-CpG-Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome. 31647993 2019
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Different mutations in the gene implicated in RTT-<i>methyl-CpG-binding protein 2</i> (<i>MECP2</i>) establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. 28637735 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Rett syndrome (RTT) is a rare neurodevelopmental disorder usually caused by mutations in the X-linked gene <i>methyl-CpG-binding protein 2</i> (<i>MECP2</i>). 28592917 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Defects in methyl CpG binding protein gene (MECP2) largely accounts for RTT. 28857161 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female patients, with a lethal effect in hemizygous males. 27465203 2016
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Rett syndrome (RTT) is caused by mutations of MECP2, a methyl CpG binding protein thought to act as a global transcriptional repressor. 24094325 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Rett syndrome (RTT) is mainly caused by mutations in the X-linked methyl-CpG binding protein (MeCP2) gene. 24453408 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE RTT is associated with episodes of tachypneic and irregular breathing intermixed with breathholds and apneas and is caused by mutations in the X-linked MECP2 gene encoding methyl-CpG-binding protein. 23723037 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE The protein MeCP2 (Methyl CpG-binding protein) is an abundant component of pericentric heterochromatin and its mutations or duplications are present in around 80% of patients with a neurological disorder known as Rett Syndrome. 17965612 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations of the MECP2 (methyl-CpG-binding protein) gene mainly cause Rett syndrome but were also shown to be involved in mental retardation. 17383248 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the methyl-cytosine-phosphate-guanosine dinucleotide (CpG) binding protein 2 gene are identified in up to 90% of patients with classic Rett syndrome. 17903671 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the MECP2 (methyl-CpG-binding protein) gene have been found to cause RTT. 16879196 2006
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. 16473305 2006
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. 14618241 2004
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. 12180070 2002
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Recent genetic analyses have revealed that mutations in the methyl-CpG-binding protein gene encoding MeCP2 are associated with Rett syndrome. 11738866 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. 11241840 2001
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the methyl-CpG-binding protein gene MECP2 at Xq28 cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by a period of stagnation followed by regression in the development of young girls. 10767337 2000