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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Hydrocephalus
|
0.300 |
Biomarker
|
disease |
MGD |
Congenital hydrocephalus in genetically engineered mice.
|
21746835 |
2012 |
Hydrocephalus
|
0.300 |
Biomarker
|
disease |
HPO |
|
|
|
Ovarian Serous Adenocarcinoma
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Hematocrit procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Hemoglobin measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
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 |
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 |
Spontaneous abortion
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Asthma
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Atelectasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Bronchiectasis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Bronchitis, Chronic
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Clubbed Fingers
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Corneal dystrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Coughing
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Congenital pectus excavatum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|