Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 GeneticVariation disease BEFREE A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4. 31152969 2019
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 GeneticVariation disease BEFREE A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. 28847448 2017
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 GeneticVariation disease BEFREE Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. 26400421 2015
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 GeneticVariation disease BEFREE The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation. 23770104 2013
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 GeneticVariation disease BEFREE A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. 23550889 2013
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 Biomarker disease MGD Here, we have generated a mouse model for the peripheral neuropathy Charcot-Marie-Tooth disease type 4H by constitutively disrupting the mouse orthologue of the suspected culprit gene FGD4 that encodes the small RhoGTPase Cdc42-guanine nucleotide exchange factor Frabin. 23171661 2012
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 Biomarker disease BEFREE The report confirms genetic heterogeneity of FGD4, demonstrates that CMT4H has variable functional impairment, and suggests that frabin plays a crucial role during myelin formation. 19332693 2009
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 GeneticVariation disease UNIPROT Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. 17564959 2007
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 GeneticVariation disease UNIPROT Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. 17564972 2007
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 Biomarker disease GENOMICS_ENGLAND Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. 17564959 2007
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. 15744041 2005
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 Biomarker disease CTD_human
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 Biomarker disease GENOMICS_ENGLAND
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		0.960 CausalMutation disease CLINVAR