|
Hydrops Fetalis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively.
|
27109146 |
2016 |
|
Ptosis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
These results delineate the clinical manifestations of RIT1 mutation-positive NS patients: high frequencies of hypertrophic cardiomyopathy, atrial septal defects, and pulmonary stenosis; and lower frequencies of ptosis and short stature.
|
26714497 |
2016 |
|
Birth Weight
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
|
31043758 |
2019 |
|
Crohn Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
|
26192919 |
2015 |
|
Eczema
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Orbital separation excessive
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Inflammatory Bowel Diseases
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
|
23128233 |
2012 |
|
Inflammatory Bowel Diseases
|
0.100 |
GeneticVariation
|
group |
GWASDB |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
|
23128233 |
2012 |
|
White Blood Cell Count procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).
|
21738479 |
2011 |
|
Edema of lower extremity
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Short stature
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively.
|
29734338 |
2018 |
|
Primary malignant neoplasm
|
0.070 |
GeneticVariation
|
group |
BEFREE |
Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively.
|
29734338 |
2018 |
|
Congenital Heart Defects
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Clinical manifestations in the RIT1-mutation-positive individuals are consistent with those of Noonan syndrome, which is characterized by distinctive facial features, short stature, and congenital heart defects.
|
23791108 |
2013 |
|
Adenocarcinoma of lung (disorder)
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Recent studies revealed that germ-line and somatic RIT1 mutations can cause Noonan syndrome (NS), and drive proliferation of lung adenocarcinomas, respectively, akin to RAS mutations in these diseases.
|
27226556 |
2016 |
|
Leukemogenesis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that loss-of-function mutations of Rit1 contribute to mouse lymphomagenesis and possibly to human cancer development.
|
12565905 |
2003 |
|
Liver carcinoma
|
0.020 |
GeneticVariation
|
disease |
LHGDN |
Gene amplification is one of the main activating ways of RIT1 gene in HCC, and its amplification might be correlated with HCC carcinogenesis, while point mutation might be not.
|
14767908 |
2004 |
|
Hypertrophic obstructive cardiomyopathy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlation analyses of previously reported NS patients harboring RIT1, PTPN11, SOS1, RAF1, and KRAS revealed that hypertrophic cardiomyopathy (56 %) was more frequent in patients harboring a RIT1 mutation than in patients harboring PTPN11 (9 %) and SOS1 mutations (10 %).
|
26714497 |
2016 |
|
Anxiety
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Effects of implantable cardioverter/defibrillator shock and antitachycardia pacing on anxiety and quality of life: A MADIT-RIT substudy.
|
28625384 |
2017 |
|
Anxiety Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Effects of implantable cardioverter/defibrillator shock and antitachycardia pacing on anxiety and quality of life: A MADIT-RIT substudy.
|
28625384 |
2017 |
|
Febrile Convulsions
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Two cases of febrile convulsions (one considered vaccination-related) were reported within 43 days post-MMR-RIT.
|
30118386 |
2018 |
|
Acute lymphocytic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
|
Chronic Obstructive Airway Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
On multivariable analysis, RIT TAT of ≤ 2 h (OR 1.62, p = 0.013) was associated with higher likelihood of patients being discharged, whereas immunosuppressed patients (OR 2.25, p = 0.011), COPD (OR 2.42, p = 0.001) and pneumonia on presentation (OR 8.10, p < 0.001) were more likely to get admitted.
|
31797156 |
2019 |
|
Pneumonia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
On multivariable analysis, RIT TAT of ≤ 2 h (OR 1.62, p = 0.013) was associated with higher likelihood of patients being discharged, whereas immunosuppressed patients (OR 2.25, p = 0.011), COPD (OR 2.42, p = 0.001) and pneumonia on presentation (OR 8.10, p < 0.001) were more likely to get admitted.
|
31797156 |
2019 |