Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752061
Disease: Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral Palsy, Spastic Quadriplegic, 2 		0.500 Biomarker disease GENOMICS_ENGLAND Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. 16301218 2005
CUI: C2752061
Disease: Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral Palsy, Spastic Quadriplegic, 2 		0.500 Biomarker disease CTD_human
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 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 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: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 Biomarker disease PSYGENET In addition, several SNPs of these loci (ANAPC1, KANK1, NACM1, TCC12, SLCO3A1 and ZCCHC14) were associated with alcohol dependence. 22377092 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 GeneticVariation disease BEFREE In addition, several SNPs of these loci (ANAPC1, KANK1, NACM1, TCC12, SLCO3A1 and ZCCHC14) were associated with alcohol dependence. 22377092 2012
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.300 Biomarker disease CTD_human "Integrative ""-Omics"" Analysis in Primary Human Hepatocytes Unravels Persistent Mechanisms of Cyclosporine A-Induced Cholestasis." 27989131 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C2751938
Disease: Cerebral Palsy, Spastic Quadriplegic, 1
Cerebral Palsy, Spastic Quadriplegic, 1 		0.300 GermlineCausalMutation disease ORPHANET Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. 16301218 2005
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.150 GeneticVariation disease BEFREE These data led us to conclude that small deletions involving KANK1 do not cause a highly-penetrant influence of large effect size and they are unlikely to contribute significantly to the aetiology of disease in patients with development delay, intellectual disability, autism or cerebral palsy. 30684669 2020
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.150 Biomarker disease BEFREE After evaluation of our case series and reconsideration of the literature, we propose that KANK1 aberrations do not frequently cause CP but cannot exclude that they represent a risk factor for ASD, especially when the coding region of the shorter, alternate KANK1 transcript (termed "transcript 4" in the UCSC Genome Browser) is impacted. 29729439 2019
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.150 GeneticVariation disease BEFREE Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. 23454270 2013
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.150 GeneticVariation disease BEFREE Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton in the genesis of the disease. 23836506 2013
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.150 GeneticVariation disease BEFREE Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. 16301218 2005
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.150 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. 23454270 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE These results supported that upregulation of KANK1 works as a tumour suppressor gene in BC and is associated with improved patients' outcomes. 31679074 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Meanwhile, Kank1 also plays a key role in the occurrence and development of various types of tumors, suggesting that Kank1 may be an anti-oncogene. 31338836 2020
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
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: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019