Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.100 GeneticVariation group GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.100 GeneticVariation group GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE The results above indicate that upregulating the Kank1 gene can inhibit the progress of gastric cancer in vivo and in vitro and its mechanism is closely relevant to apoptosis and the tumor invasion and metastasis. 28731169 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 AlteredExpression phenotype BEFREE In the METABRIC cohort, high expression of KANK1 mRNA was associated with characteristics of good prognosis including lower grade, absence of lymphovascular invasion and HER2 negativity (all; p < 0.001) and with better outcome [p = 0.006, Hazards ratio, (HR) 0.70, 95% CI 0.54-0.91]. 31679074 2020
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.010 Biomarker disease BEFREE KANK1-PDGFRB is a unique example of a thrombocythemia-associated oncogene that does not signal via JAK2. 21685469 2011
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE The results above indicate that upregulating the Kank1 gene can inhibit the progress of gastric cancer in vivo and in vitro and its mechanism is closely relevant to apoptosis and the tumor invasion and metastasis. 28731169 2017
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
0.100 Biomarker disease HPO
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 Biomarker disease BEFREE Kank1, which was first described as a potential tumor suppressor for renal cell carcinoma (RCC), mapped to 9p24.3 and encoded an ankyrin-repeat domain-containing protein. 25973051 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 Biomarker disease BEFREE The Kank gene was found as a candidate tumor suppressor gene at 9p24 by loss-of-heterozygosity search in renal cell carcinoma (RCC) and seems to have a role in controlling the formation of the cytoskeleton through the polymerization of actin. 15596059 2005
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.010 AlteredExpression disease BEFREE It was recently discovered that the Kank1 gene is a new cancer suppressor, and its expression is significantly downregulated or it is not expressed in kidney cancer, bladder cancer, prostate cancer, lung cancer and breast cancer. 24399197 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 AlteredExpression disease BEFREE It was recently discovered that the Kank1 gene is a new cancer suppressor, and its expression is significantly downregulated or it is not expressed in kidney cancer, bladder cancer, prostate cancer, lung cancer and breast cancer. 24399197 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 Biomarker disease BEFREE However, there is no study concerning the specific role of Kank1 in the development and progression of lung cancer. 29956815 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 AlteredExpression group BEFREE It was recently discovered that the Kank1 gene is a new cancer suppressor, and its expression is significantly downregulated or it is not expressed in kidney cancer, bladder cancer, prostate cancer, lung cancer and breast cancer. 24399197 2014
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.010 GeneticVariation disease BEFREE Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients. 16081684 2005
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.100 GeneticVariation disease GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.100 GeneticVariation disease GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.010 GeneticVariation disease BEFREE Furthermore, rs2241617 in ZCCHC14 and rs4742225 in KANK1 showed strong associations with ND (p=1.06×10(-7) and 4.81×10(-7), respectively) in the replication sample. 22377092 2012
CUI: C0027830
Disease: neurofibroma
neurofibroma
0.010 Biomarker disease BEFREE Consistently, knockdown of KANK1 in neurofibroma cells promoted cell growth. 28067315 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.010 GeneticVariation group BEFREE Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders. 29729439 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 GeneticVariation group BEFREE We recommend searching for an alternate explanation for disease in individuals with a neurological disorder found to have a small deletion involving KANK1. 30684669 2020
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.320 Biomarker group GENOMICS_ENGLAND Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome. 25961457 2015
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.320 GeneticVariation group BEFREE Mutations in KANK proteins are implicated in cancers and genetic diseases, such as nephrotic syndrome. 29217769 2018
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.320 GeneticVariation group BEFREE Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome. 25961457 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE We used RNA interference techniques to silence Kank1 gene expression and found acceleration of tumor cell proliferation. 24399197 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE We observed deletion of chromosomal segments on chr9p and chr13q, including tumor suppressor genes such as KANK1 and CDKN2A, but no gene fusions were found. 29141020 2017