|
Liver regeneration disorder
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The SDE with log2 fold change > 3 and the unique SDE revealed the promotion of immune suppression (e.g., TCR), apoptosis (e.g., CCDC103), PGF2α synthesis, fat accumulation (e.g., BGLAP) and liver regeneration (e.g., FGF10) pathways, and the downregulation of antigen presentation (e.g., BOLA-DQA) on the 15th day of lactation.
|
31073775 |
2019 |
|
Superficial ulcer
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Surface microhardness was determined at baseline (BL), after D1, in situ phase and D2 to assess hardness loss (%SMH), residual hardness loss (%RHL) and erosion resistance (%RER).
|
28977796 |
2018 |
|
Skin Erosion
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Surface microhardness was determined at baseline (BL), after D1, in situ phase and D2 to assess hardness loss (%SMH), residual hardness loss (%RHL) and erosion resistance (%RER).
|
28977796 |
2018 |
|
Developmental delay (disorder)
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
However, as mutation in CCDC103 would not account for the developmental delay, array comparative genomic hybridisation was undertaken and identified a maternally inherited gain of ~1.6 Mb (chr17:34,611,352-36,248,918).
|
26123568 |
2015 |
|
Global developmental delay
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, as mutation in CCDC103 would not account for the developmental delay, array comparative genomic hybridisation was undertaken and identified a maternally inherited gain of ~1.6 Mb (chr17:34,611,352-36,248,918).
|
26123568 |
2015 |
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
|
28790179 |
2018 |
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
|
26123568 |
2015 |
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
|
23891469 |
2013 |
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.
|
24357714 |
2013 |
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
|
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 |
|
|
|
|
Chronic rhinitis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Ciliary Motility Disorders
|
0.100 |
Biomarker
|
group |
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 |
|
|
|
|
Halitosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Headache
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|