LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009319
Disease: Colitis
Colitis
0.010 AlteredExpression disease BEFREE A dozen were shown to possess improved properties, among which inhibition of YO-PRO-1/TO-PRO-3 uptake and IL1β release upon BzATP activation of the receptor and dampening signs of DSS-induced colitis on mice, in comparison with reference antagonist GSK1370319A. 31525963 2020
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 GeneticVariation group BEFREE Regression analyses on echocardiography and serum labs revealed that LMNA variant carriers had dilated cardiomyopathy and primary renal disease. 31383942 2020
Secondary malignant neoplasm of bone
0.010 Biomarker disease BEFREE Collectively, our study suggested that bone metastasis is an important prognostic factor and superior than the presence of the IDC-P for PCa patients with Grade Group 5. 31734052 2020
CUI: C0521858
Disease: Decreased drug resistance
Decreased drug resistance
0.010 Biomarker phenotype BEFREE Moreover, lamin A/C knockdown also decreased drug resistance of suspension MDA-MB-231 cells, but the effect on drug resistance was less than that of ABCC3 knockdown. 31367898 2020
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
0.010 AlteredExpression disease BEFREE Additionally, four proteins (myosin light chain 1/3, skeletal muscle isoform; lamin A/C; ankyrin repeat domain 2; and eukaryotic translation initiation factor 5A-1) were inconsistently elevated in the dysferlinopathy samples. 31439488 2020
CUI: C0008311
Disease: Cholangitis
Cholangitis
0.010 AlteredExpression disease BEFREE Although the HPC niche in FHL resembles that described in hepatopathies in dogs and in feline lymphocytic cholangitis, the expression of K19, α-SMA, MAC387 and lamin is more variable in FHL, and a common pattern of activation could not be established. 29741464 2019
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.010 Biomarker group BEFREE Expectedly, LFP-20 pre-treatment attenuated the LPS-mediated immune disorders in ileum. 30837028 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE Our findings establish lamin A/C as a key regulator of Th differentiation in physiological conditions and show it as a potential immune-regulatory target in IBD. 31372995 2019
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.010 Biomarker disease BEFREE These AKs were graded as PRO I in 18·6% of cases, PRO II in 30·5% and PRO III in 50·8%. 29526028 2019
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile
0.010 Biomarker disease BEFREE Better understanding of MSC differentiation regulated by lamin A/C could provide insights into pathogenesis of age-related osteoporosis. 30706289 2019
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.010 Biomarker phenotype BEFREE Individuals who sleep >7 hours/night with no trouble sleeping are 40% less likely to have severe periodontal disease (odds ratio [OR] = 0.6, P < 0.05), adjusting for age, sex, smoking status, FPL, education level, and dental visit. 31749207 2019
CUI: C0206602
Disease: Circovirus Infections
Circovirus Infections
0.010 Biomarker disease BEFREE We further identified the N-terminal 24RRR26 of Cap to be crucial for binding to p32, and mutation of these three arginine residues significantly weakened the replication and pathogenesis of PCV2 <i>in vivo</i> In summary, our findings highlight a critical role of p32 in the activation and recruitment of PKC-δ to phosphorylate lamin A/C and facilitate porcine circoviral nuclear egress, and they certainly help understanding of the mechanism of PCV2 replication.<b>IMPORTANCE</b> Circovirus infections are highly prevalent in mammalian and avian species. 31511386 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
0.010 GeneticVariation group BEFREE Many patients with an LMNA mutation have neurologic symptoms by their 30s and develop progressive cardiac manifestations during the next decade. 31476771 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 GeneticVariation group BEFREE Spot urine samples obtained 6 hours following 200-mg caffeine administration were used to determine caffeine metabolite ratios (CMRs); blood samples were used to determine CYP1A2*1F (rs762551) and CYP1A2*1C (rs2069514) polymorphisms and the hormonal profile (estradiol, progesterone, and luteinizing and follicle-stimulating hormones) at EFP, LFP, and LP. 30591530 2019
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency
0.010 GeneticVariation disease BEFREE Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy. 31199775 2019
CUI: C0332853
Disease: Anastomosis
Anastomosis
0.010 Biomarker disease BEFREE LFP-HHD has the same principle of original HHD allowing for multiple tension-free well-vascularized biliary anastomoses. 31313146 2019
CUI: C0342335
Disease: insulin resistance in diabetes
insulin resistance in diabetes
0.010 GeneticVariation disease BEFREE Patients with LMNA (n = 22) or PPARG pathogenic variants (n = 7), leptin <12 ng/mL, and diabetes, insulin resistance, or high triglycerides. 31194872 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.010 Biomarker disease BEFREE In 100 DCIS patients whose margin was negative by the polygon method, 5 IBTR (3 DCIS and 2 invasive ductal carcinoma [IDC]) and 10 CBC (6 DCIS and 4 IDC) cases were identified during a median follow-up of 7.6 years (range, 0.9-17.4). 31062495 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 AlteredExpression disease BEFREE Lamin-A tended to be lower in ovarian cancer, and higher expression of lamin-A was associated with better survival. 30384980 2019
Attention deficit hyperactivity disorder
0.010 AlteredExpression disease BEFREE These findings provide novel evidence that ADHD reflects impaired EDC and enhanced IDC, and they reinforce the clinical relevance of distinguishing EDC and IDC in future studies. 30589304 2019
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.010 Biomarker disease BEFREE However, the nonspecific myopathic histopathological changes and extremely rare minicore-like structures can make it challenging to differentiate between SELN-myopathy and congenital muscular dystrophies, such as Ullrich or lamin A/C-CMD. 30612914 2019
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
0.010 Biomarker disease BEFREE However, the nonspecific myopathic histopathological changes and extremely rare minicore-like structures can make it challenging to differentiate between SELN-myopathy and congenital muscular dystrophies, such as Ullrich or lamin A/C-CMD. 30612914 2019
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
0.010 Biomarker disease BEFREE However, the nonspecific myopathic histopathological changes and extremely rare minicore-like structures can make it challenging to differentiate between SELN-myopathy and congenital muscular dystrophies, such as Ullrich or lamin A/C-CMD. 30612914 2019
CUI: C2945759
Disease: aggressive cancer
aggressive cancer
0.010 Biomarker phenotype BEFREE Intraductal carcinoma of the prostate (IDC-P) should be reported when present, because of its strong link with aggressive cancer. 30477882 2019
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma
0.010 AlteredExpression disease BEFREE This study aimed to evaluate expression and prognostic significance of lamin A/C in early-stage breast cancer. 30610489 2019