STK36, serine/threonine kinase 36, 27148

N. diseases: 47; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GeneticVariation disease BEFREE Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 28543983 2017
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 28543983 2017
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 Biomarker disease BEFREE STK36 screening can now be included for this rare and difficult to diagnose PCD subgroup. 28543983 2017
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 GermlineCausalMutation disease ORPHANET STK36 screening can now be included for this rare and difficult to diagnose PCD subgroup. 28543983 2017
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation disease ORPHANET Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 28543983 2017
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation disease ORPHANET Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 28543983 2017
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.300 Biomarker disease MGD Congenital hydrocephalus in genetically engineered mice. 21746835 2012
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.300 Biomarker disease HPO
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease GWASCAT Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. 22959728 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease GWASDB Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. 22959728 2013
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.100 Biomarker disease HPO
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		0.100 Biomarker disease HPO
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		0.100 Biomarker disease HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO