JPH1, junctophilin 1, 56704

N. diseases: 29; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE In conclusion, the expression of PTP4A3 and JPH1 correlates with risk of liver metastasis in colorectal cancer and breast cancer. 31748560 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE In conclusion, the expression of PTP4A3 and JPH1 correlates with risk of liver metastasis in colorectal cancer and breast cancer. 31748560 2019
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 AlteredExpression disease BEFREE In conclusion, the expression of PTP4A3 and JPH1 correlates with risk of liver metastasis in colorectal cancer and breast cancer. 31748560 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE In conclusion, the expression of PTP4A3 and JPH1 correlates with risk of liver metastasis in colorectal cancer and breast cancer. 31748560 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 AlteredExpression disease BEFREE In conclusion, the expression of PTP4A3 and JPH1 correlates with risk of liver metastasis in colorectal cancer and breast cancer. 31748560 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 Biomarker group BEFREE Electro-physiologic studies revealed an axonal type of neuropathy (AR-CMT2K and AD-CMT2K) in all affected individuals. 29372391 2018
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.010 Biomarker disease BEFREE CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. 28495047 2017
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		0.010 Biomarker disease BEFREE CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of benign axonal neuropathy beginning even in the 6th decade of life. 25337607 2014
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.010 GeneticVariation disease BEFREE MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due to the transition m.8993T>, CMT2A due to MFN2 mutations, CMT2K and CMT4A due to GDAP1 mutations, and axonal/demyelinating neuropathy with external ophthalmoplegia due to POLG1 mutations. 21402391 2011