JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		0.100 Biomarker phenotype HPO
CUI: C1858116
Disease: Caudate atrophy
Caudate atrophy 		0.100 Biomarker phenotype HPO
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		0.100 Biomarker phenotype HPO
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.120 Biomarker disease LHGDN A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. 17708569 2007
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.100 GeneticVariation disease LHGDN The authors report a large series of patients with Huntington disease (HD)-like phenotype without CAG repeat expansions in the IT15 gene that were screened for the newly identified CAG/CTG expansion in the gene encoding junctophilin-3. 11914418 2002
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 Biomarker group LHGDN A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. 17708569 2007
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.100 GeneticVariation phenotype GWASCAT Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers. 30589442 2019
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 Biomarker disease CTD_human Comparing the DNA hypermethylome with gene mutations in human colorectal cancer. 17892325 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 Biomarker group CTD_human Comparing the DNA hypermethylome with gene mutations in human colorectal cancer. 17892325 2007
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 CausalMutation disease CLINVAR
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE Huntington's Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 gene. 31704316 2020
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE The existence of a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that transcripts containing an expanded CUG repeat could play a role in the pathogenesis of HDL2, similar to the proposed pathogenic role of expanded CUG repeats in myotonic dystrophy type 1 (DM1). 17387722 2007
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE <i>JPH3</i> mutations are linked to Huntington's disease-like 2 syndrome. 28656064 2017
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). 17708569 2007
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE Huntington's Disease-Like 2 (HDL2), caused by a CTG/CAG expansion in JPH3 on chromosome 16q24, is the most common Huntington's Disease (HD) phenocopy in populations with African ancestry. 30682531 2019
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 GeneticVariation disease BEFREE A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. 11694876 2001
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		0.800 Biomarker disease BEFREE However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in JPH3, confirming the diagnosis of Huntington disease like 2 (HDL2). 26079385 2015