|
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
|
27479907 |
2016 |
|
Colorectal Carcinoma
|
0.510 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
The PRKD1 E710D hotspot mutation is highly specific in separating polymorphous adenocarcinoma of the palate from adenoid cystic carcinoma and pleomorphic adenoma on FNA.
|
29266837 |
2018 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Polymorphous (low-grade) adenocarcinomas are characterized by hot spot point E710D mutations in the PRKD1 gene, whereas cribriform adenocarcinoma of (minor) salivary glands origin are characterized by translocations involving the PRKD1-3 genes.
|
29076877 |
2018 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Salivary gland polymorphous low-grade adenocarcinomas commonly harbor activating PRKD1 mutations.
|
25367945 |
2014 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Lack of PRKD2 and PRKD3 kinase domain somatic mutations in PRKD1 wild-type classic polymorphous low-grade adenocarcinomas of the salivary gland.
|
26426580 |
2016 |
|
Metastatic melanoma
|
0.310 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Alopecia
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic prediction of male pattern baldness.
|
28196072 |
2017 |
|
Body mass index procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
|
23001569 |
2013 |
|
Body mass index procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
|
20935630 |
2010 |
|
Body Weight
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
|
28552196 |
2017 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
|
29844566 |
2018 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
|
29326435 |
2019 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
|
29942086 |
2018 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Oriented cell division (OCD) and convergent extension (CE) shape developing renal tubules, and their disruption has been associated with polycystic kidney disease (PKD) genes, the majority of which encode proteins that localize to primary cilia.
|
29033332 |
2017 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
ADPKD is caused by mutations in the polycystic kidney disease (PKD)1 or PKD2 gene, encoding polycystin (PC)-1 or PC-2, respectively.
|
15563610 |
2005 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys.
|
30042193 |
2018 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polycystic kidney disease (PKD) proteins are trans-membrane proteins that have crucial roles in many aspects of vertebrate development and physiology, including the development of many organs as well as left-right patterning and taste.
|
28271061 |
2017 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although extremely rare, TSC and autosomal dominant polycystic kidney disease (ADPKD) can co-exist in the same patient as a result of concurrent deletion of both polycystic kidney disease (PKD) 1 and TSC2 genes present on the chromosome 16p13.3.
|
25519866 |
2014 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polycystin complexes, or TRPP-PKD complexes, made of transient receptor potential channel polycystin (TRPP) and polycystic kidney disease (PKD) proteins, play key roles in coupling extracellular stimuli with intracellular Ca<sup>2+</sup> signals.
|
28154010 |
2017 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
|
22034641 |
2011 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Based on these in vitro and in vivo observations, we propose that TMEM67 mutations cause PKD through ERK- and JNK-dependent signalling pathways, which may provide novel insight into the therapy of polycystic kidney diseases.
|
23456819 |
2013 |
|
Polycystic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
|
24506938 |
2014 |