Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554517
Disease: COWDEN SYNDROME 4
COWDEN SYNDROME 4 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C3554517
Disease: COWDEN SYNDROME 4
COWDEN SYNDROME 4 		0.500 Biomarker disease CTD_human
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 GeneticVariation disease BEFREE Formerly, the role of PTEN mutations and KLLN epimutations were identified in incidence of thyroid lesions in individuals with Cowden syndrome, a rare autosomal dominant inherited disorder. 28755140 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 Biomarker disease BEFREE Germline alterations in phosphatase and tensin homolog (PTEN; PTEN_mut+), succinate dehydrogenase B/C/D (SDHB-D; SDHx_var+), and killin (KLLN_Me+) cause CS and Cowden syndrome-like (CSL) phenotypes. 25376524 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 PosttranslationalModification disease BEFREE Furthermore, increasing KLLN promoter methylation is associated with a greater phenotype burden in mutation-negative CS patients. 25669429 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 GeneticVariation disease BEFREE KLLN variants in CS/CSL patients are rare (1 of 136, 0.007%). 23446638 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 GeneticVariation disease BEFREE Germline PTEN and SDHx mutations and KLLN epimutation cause CS and CS-like phenotypes. 21956414 2011
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 PosttranslationalModification disease BEFREE We recently identified germline methylation of KILLIN, a novel p53-regulated tumor suppressor proximal to PTEN, in >1/3 Cowden or Cowden syndrome-like (CS/CSL) individuals who are PTEN mutation negative. 21584899 2011
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 GermlineCausalMutation disease ORPHANET Nucleic acids from prospective nested series of 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffected individuals without PTEN variants were analyzed for germline methylation and expression of PTEN and KILLIN at the Cleveland Clinic, August 2008-June 2010. 21177507 2010
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.370 AlteredExpression disease BEFREE Nucleic acids from prospective nested series of 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffected individuals without PTEN variants were analyzed for germline methylation and expression of PTEN and KILLIN at the Cleveland Clinic, August 2008-June 2010. 21177507 2010
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.300 SusceptibilityMutation disease ORPHANET Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci. 23450725 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.150 Biomarker disease BEFREE Activation of AR sensitizes breast carcinomas to NVP-BEZ235's therapeutic effect mediated by PTEN and KLLN upregulation. 24356815 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.150 AlteredExpression disease BEFREE We characterize KLLN, for the first time, as a transcription factor, directly promoting the expression of TP53 and TP73, with consequent elevated apoptosis and cell cycle arrest in breast cancer cells. 23418309 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.150 GeneticVariation disease BEFREE Patients with KLLN variants have a family history of breast cancer when compared with those without (P = 0.02). 23446638 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.150 GeneticVariation disease BEFREE Our data suggest that pathogenic mutations in KLLN are rare in breast cancer families and the c.339_340delAG variant does not represent a high-penetrance breast cancer risk allele. 22580995 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.150 PosttranslationalModification disease BEFREE Individuals with KILLIN -promoter methylation had a 3-fold increased prevalence of breast cancer (35/42 vs 24/64; P < .0001) and a greater than 2-fold increase of kidney cancer (4/45 vs 6/155; P = .004) over individuals with germline PTEN mutations. 21177507 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.150 Biomarker disease HPO
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.110 GeneticVariation disease BEFREE Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study. 25376524 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.110 AlteredExpression disease BEFREE Furthermore, 19 of 20 advanced RCC showed somatic hypermethylation upstream of KILLIN, with the majority hypermethylated at more than one CpG island (13/19 vs. 3/23 with germline methylation, P < 0.0001). qRT-PCR revealed that methylation significantly downregulates KILLIN expression (P = 0.05), and demethylation treatment by 5-aza-2'deoxycytidine significantly increased KILLIN expression in all RCC cell lines while only increasing PTEN expression in one line. 21584899 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.110 Biomarker disease HPO
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.110 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO