Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 GeneticVariation disease BEFREE In conclusion, mutations in SH3TC2 are responsible for 26% of Greek patients with suspected CMT4, identifying CMT4C as the most common recessive demyelinating neuropathy in the Greek population, in accordance with other Mediterranean cohorts. 30653784 2019
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 CausalMutation disease CLINVAR Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India. 29184351 2019
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 GeneticVariation disease BEFREE This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients. 31227790 2019
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 Biomarker disease BEFREE The aim of this project was to develop a gene replacement therapy for treating Charcot-Marie-Tooth disease type 4C to rescue the phenotype of the Sh3tc2-/- mouse model. 30907403 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation disease BEFREE Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. 31634715 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation disease BEFREE We screened SH3TC2 in 50 unrelated Greek patients with suspected demyelinating Charcot-Marie-Tooth disease and pedigree compatible with recessive inheritance. 30653784 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.140 GeneticVariation disease BEFREE Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. 31634715 2019
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		0.120 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized by early onset, spine deformities, and cranial nerve involvement. 30653784 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.050 GeneticVariation disease BEFREE In conclusion, mutations in SH3TC2 are responsible for 26% of Greek patients with suspected CMT4, identifying CMT4C as the most common recessive demyelinating neuropathy in the Greek population, in accordance with other Mediterranean cohorts. 30653784 2019
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.050 Biomarker disease BEFREE The SH3TC2 gene appeared to be the most frequently mutated gene for demyelinating neuropathy in this series by NGS. 31634715 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.020 Biomarker group BEFREE Sh3tc2-/- mice represent a well characterized disease model developing early onset progressive peripheral neuropathy with hypo- and demyelination, slowing of nerve conduction velocities and disturbed nodal architecture. 30907403 2019
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 Biomarker group BEFREE Sh3tc2-/- mice represent a well characterized disease model developing early onset progressive peripheral neuropathy with hypo- and demyelination, slowing of nerve conduction velocities and disturbed nodal architecture. 30907403 2019
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 CausalMutation disease CLINVAR Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2. 29321516 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 Biomarker disease BEFREE CMT4C is the most common recessive CMT in Norway. 30001926 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation disease BEFREE We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. 29336362 2018
CUI: C0494491
Disease: Mononeuropathies
Mononeuropathies 		0.110 Biomarker group BEFREE SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. 29321516 2018
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.040 Biomarker disease BEFREE Subsequently, a series of validation projects were conducted based on 128 assessments of: 26 confirmed cases of inherited neuropathy (17 CMT1A, one CMT1B, one CMT1D, one CMT2C, one CMT2S, two CMT4C, one CMTX3, one Riboflavin Transporter Deficiency Type 2, and one unidentified mutation); seven 'at risk' cases and 95 unaffected healthy controls recruited through the NIH-funded Inherited Neuropathies Consortium. 30476010 2018
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.120 CausalMutation disease CLINVAR Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. 28555600 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 GeneticVariation disease BEFREE In our series of undiagnosed CMT4 patients, SH3TC2 mutation frequency is 30%, confirming that CMT4C may be the most common AR-CMT type. 27231023 2016
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		1.000 CausalMutation disease CLINVAR Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 26752306 2016