chr1:196651754:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:196,620,884-196,721,606 
hg38 chr1:196,651,754-196,752,476

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 hypertrophic cardiomyopathy However, hypertrophic cardiomyopathy (HCM) and Emery-Dreifuss muscular dystrophy... BeFree 24634512 Detail
0.011 Cardiovascular Diseases NA BeFree,GAD,LHGDN Detail
0.002 Carotid Artery Diseases NA GAD Detail
0.002 Chlamydia Infections NA GAD Detail
0.012 Choroid Diseases NA GAD Detail
0.002 choroiditis NA GAD Detail
0.003 Colonic Neoplasms NA LHGDN Detail
0.004 Coronary Arteriosclerosis NA BeFree,GAD Detail
0.012 Coronary heart disease NA BeFree,GAD,LHGDN Detail
<0.001 Dengue Fever NA BeFree Detail
0.002 Diabetes Mellitus, Insulin-Dependent NA GAD Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree,GAD Detail
0.002 Diabetic Nephropathy NA GAD Detail
<0.001 diabetic retinopathy NA BeFree Detail
0.001 diarrhea Our cases highlight the complexity of diagnosing DEAP-HUS due to the common occu... BeFree 24131678 Detail
<0.001 Muscular Dystrophy, Duchenne NA BeFree Detail
<0.001 Enteritis NA BeFree Detail
0.003 Disorder of eye Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk ... BeFree,LHGDN 25200399 Detail
0.002 Furunculosis NA GAD Detail
<0.001 Gingival Diseases NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
<0.001 Glioma NA BeFree Detail
0.005 glomerulonephritis NA BeFree,GAD Detail
0.133 Glomerulonephritis, Membranoproliferative NA BeFree,CTD_human,LHGDN Detail
0.083 membranous glomerulonephritis NA BeFree,LHGDN,RGD Detail
<0.001 Focal glomerulosclerosis NA BeFree Detail
<0.001 gonorrhea NA BeFree Detail
0.060 hemolytic-uremic syndrome The clinical spectrum of hemolytic uremic syndrome secondary to complement facto... BeFree,GAD,LHGDN 24131678 Detail
0.060 hemolytic-uremic syndrome A 'silent', new polymorphism of factor H and apparent de novo atypical haemolyti... BeFree,GAD,LHGDN 25538218 Detail
<0.001 Hirschsprung Disease Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's d... BeFree 24516350 Detail
<0.001 HIV Infections NA BeFree Detail
0.005 Hypercholesterolemia, Familial NA BeFree,GAD Detail
0.009 Hypertensive disease The association with the CFH Y402 risk allele was less pronounced in RAP patient... BeFree,GAD,LHGDN 24847905 Detail
<0.001 pulmonary hypertension NA BeFree Detail
0.120 Immunologic Deficiency Syndromes NA CTD_human Detail
<0.001 Immune System Diseases NA BeFree Detail
0.005 Inflammation NA GAD Detail
0.002 Inflammatory Bowel Diseases NA GAD Detail
<0.001 influenza Binding of human factor H to outer membrane protein P5 of non-typeable Haemophil... BeFree 25091181 Detail
0.080 Jaundice, Obstructive NA RGD Detail
<0.001 actinic keratosis NA BeFree Detail
0.122 Kidney Diseases NA BeFree,GWASCAT Detail
0.001 Kidney Failure, Acute NA BeFree Detail
0.009 Kidney Failure, Chronic NA BeFree,GAD Detail
<0.001 leprosy Mapping genetic variants in the CFH gene for association with leprosy in Han Chi... BeFree 25030427 Detail
<0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 leukopenia NA BeFree Detail
<0.001 Liver diseases NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.002 Lupus Erythematosus, Systemic NA BeFree Detail
<0.001 lupus nephritis NA BeFree Detail
0.004 Lyme disease NA BeFree Detail
0.002 Lymphoma, Non-Hodgkin NA GAD Detail
<0.001 malaria The sexual forms of the malaria parasites recruit the soluble human complement r... BeFree 25816986 Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
<0.001 meningococcal meningitis NA BeFree Detail
0.124 Meningococcal Infections The prevention of meningococcal disease may be improved by recombinant vaccines ... BeFree,CTD_human,GAD 25247300 Detail
0.124 Meningococcal Infections These data may explain the association between genetic variation in both CFH and... BeFree,CTD_human,GAD 25534642 Detail
0.124 Meningococcal Infections The CFH-CFHR3-CFHR1 aHUS-risk haplotype seems to be the same as was previously a... BeFree,CTD_human,GAD 26163426 Detail
<0.001 Metabolic Diseases NA BeFree Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance Finally, anti-FH Abs were frequently associated with the presence of C3 nephriti... BeFree 25917093 Detail
<0.001 multiple sclerosis NA BeFree Detail
0.001 muscular atrophy Anti-FHL1 reactivity was predictive for muscle atrophy, dysphagia, pronounced mu... BeFree 26551678 Detail
0.004 myopathy FHL1 mutants that cause clinically distinct human myopathies form protein aggreg... BeFree 24634512 Detail
0.004 myopathy Mutations in FHL1 have been associated with diverse X-linked muscle diseases: sc... BeFree 25274776 Detail
0.004 myopathy Together, our findings provide evidence that FHL1 may be involved in the pathoge... BeFree 26551678 Detail
0.001 muscular dystrophy Therefore, increased FRG1 expression may contribute to a muscular dystrophy phen... BeFree 25695429 Detail
0.011 myocardial infarction NA BeFree,GAD,LHGDN Detail
<0.001 myopia NA BeFree Detail
<0.001 myositis Development of autoantibodies against muscle-specific FHL1 in severe inflammator... BeFree 26551678 Detail
<0.001 nephritis NA BeFree Detail
0.002 Hereditary nephritis NA GAD Detail
0.080 nephrosis NA RGD Detail
<0.001 neutropenia NA BeFree Detail
<0.001 Noonan syndrome NA BeFree Detail
0.001 obesity NA BeFree Detail
<0.001 panuveitis NA BeFree Detail
<0.001 Paresis Moreover, immunization of myositis-prone mice with FHL1 aggravated muscle weakne... BeFree 26551678 Detail
0.002 Parkinson disease NA GAD Detail
<0.001 Periodontal Diseases NA BeFree Detail
<0.001 Periodontal Pocket Paradoxically, bound FH is cleaved by T. denticola's dentilisin protease, a proc... BeFree 24815960 Detail
0.002 pre-eclampsia NA GAD Detail
<0.001 Precancerous Conditions NA BeFree Detail
0.005 Prostatic Neoplasms NA GAD Detail
<0.001 Protein Deficiency NA BeFree Detail
0.080 proteinuria NA RGD Detail
0.003 pseudoxanthoma elasticum NA BeFree,GAD Detail
0.002 Purpura, Thrombotic Thrombocytopenic Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally define... BeFree 25280590 Detail
<0.001 relapsing fever NA BeFree Detail
<0.001 tick-borne relapsing fever NA BeFree Detail
0.001 kidney failure Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally define... BeFree 25280590 Detail
0.001 kidney failure Of the 9 human STEC O26:H11/H- strains, two belonged to ST29 and were isolated f... BeFree 25758912 Detail
0.080 Reperfusion Injury NA RGD Detail
0.083 retinal degeneration NA BeFree,GAD,RGD Detail
0.003 Retinal Diseases NA BeFree,GAD Detail
0.015 retinal drusen NA BeFree,GAD,LHGDN Detail
0.002 Retinal Neovascularization NA GAD Detail
0.002 retinopathy of prematurity NA GAD Detail
<0.001 rhabdomyosarcoma NA BeFree Detail
<0.001 Salmonella infections NA BeFree Detail
<0.001 sarcoidosis NA BeFree Detail
0.001 Septicemia Of the 9 human STEC O26:H11/H- strains, two belonged to ST29 and were isolated f... BeFree 25758912 Detail
<0.001 Serum Sickness NA BeFree Detail
0.080 Shock, Hemorrhagic NA RGD Detail
<0.001 Dermatologic disorders NA BeFree Detail
0.002 Staphylococcal Infections NA GAD Detail
0.081 Cerebrovascular accident NA BeFree,RGD Detail
0.003 thrombocytopenia NA LHGDN Detail
<0.001 Thromboembolism NA BeFree Detail
<0.001 uveitis NA BeFree Detail
<0.001 anterior uveitis NA BeFree Detail
<0.001 Uveitis, Posterior NA BeFree Detail
0.012 Peripheral Vascular Diseases NA GAD Detail
<0.001 Arthritis, Reactive NA BeFree Detail
<0.001 Photopsia Flicker-induced retinal vasodilatation is not dependent on complement factor H p... BeFree 24863099 Detail
<0.001 Synovial Cyst FHL1 was expressed in the ganglion cells of the myenteric plexus, submucosa, as ... BeFree 24516350 Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Atrophic condition of skin NA BeFree Detail
<0.001 Hemorrhagic colitis NA BeFree Detail
0.002 Hemorrhagic diarrhea We therefore advocate a low threshold for testing CFH autoantibodies in ambiguou... BeFree 24131678 Detail
0.002 Hemorrhagic diarrhea Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally define... BeFree 25280590 Detail
0.002 Myocardial Ischemia NA GAD Detail
<0.001 Muscle Weakness Moreover, immunization of myositis-prone mice with FHL1 aggravated muscle weakne... BeFree 26551678 Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 Idiopathic pulmonary hypertension NA BeFree Detail
<0.001 Disease of capillaries NA BeFree Detail
0.003 HELLP syndrome NA BeFree,LHGDN Detail
<0.001 Microangiopathic hemolytic anemia Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-r... BeFree 24904082 Detail
<0.001 Muscle degeneration NA BeFree Detail
<0.001 Neurologic Symptoms NA BeFree Detail
<0.001 proliferative glomerulonephritis NA BeFree Detail
0.080 Amphetamine-Related Disorders NA RGD Detail
<0.001 Prodrome Presentation of aHUS, particularly, DEAP-HUS is associated with a diarrheal prod... BeFree 24131678 Detail
<0.001 Prodrome Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally define... BeFree 25280590 Detail
<0.001 furuncle NA BeFree Detail
0.003 Malignant neoplasm of lung NA BeFree,GAD Detail
0.003 Systemic Inflammatory Response Syndrome NA BeFree,GAD Detail
0.081 Sepsis Of the 9 human STEC O26:H11/H- strains, two belonged to ST29 and were isolated f... BeFree,RGD 25758912 Detail
<0.001 Multiple tumors FHL1 is an important tumor-suppressor that is downregulated in multiple tumors b... BeFree 25272045 Detail
<0.001 Congenital hypoplasia of pulmonary artery A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifus... BeFree 25724586 Detail
0.001 Renal glomerular disease Finally, anti-FH Abs were frequently associated with the presence of C3 nephriti... BeFree 25917093 Detail
0.120 Membranoproliferative Glomerulonephritis, Type I NA ORPHANET Detail
0.126 Membranoproliferative Glomerulonephritis, Type II NA BeFree,ORPHANET Detail
<0.001 Necrotizing glomerulonephritis NA BeFree Detail
<0.001 Congenital myopathy (disorder) NA BeFree Detail
0.003 Reducing-body myopathy Protein aggregates, designated 'reducing bodies', that contain mutant FHL1 are d... BeFree 24634512 Detail
<0.001 Nonexudative age-related macular degeneration NA BeFree Detail
0.131 Exudative age-related macular degeneration Association of Smoking and CFH and ARMS2 Risk Variants With Younger Age at Onset... BeFree,GWASCAT 25695752 Detail
0.131 Exudative age-related macular degeneration In this study, we found that the interaction of ARMS2 and ARMS2/HTRA1 is signifi... BeFree,GWASCAT 25771815 Detail
<0.001 Complement abnormality NA BeFree Detail
<0.001 Disease caused by Shigella dysenteriae NA BeFree Detail
0.008 Uremia syndrome Shiga toxin-producing Escherichia coli (STEC) O26 infections can be comparable w... BeFree 25758912 Detail
0.005 Atrophic NA LHGDN Detail
<0.001 Verotoxigenic Escherichia coli gastrointestinal tract infection NA BeFree Detail
0.480 age related macular degeneration Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and t... BeFree 24781946 Detail
0.480 age related macular degeneration The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CF... BeFree 23111182 Detail
0.480 age related macular degeneration Furthermore, an independent association of C2/CFB variants was found for both ty... BeFree 22232432 Detail
0.480 age related macular degeneration The presence or absence of RPD was studied among 408 patients with exudative AMD... BeFree 24595987 Detail
<0.001 Ocular sarcoidosis NA BeFree Detail
<0.001 Properdin deficiency disease NA BeFree Detail
<0.001 Endocapillary glomerulonephritis NA BeFree Detail
<0.001 Muscle damage Moreover, immunization of myositis-prone mice with FHL1 aggravated muscle weakne... BeFree 26551678 Detail
<0.001 Eichsfeld type congenital muscular dystrophy NA BeFree Detail
0.002 Muscular Dystrophy, Emery-Dreifuss Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the genes enc... BeFree 24365856 Detail
0.002 Muscular Dystrophy, Emery-Dreifuss However, hypertrophic cardiomyopathy (HCM) and Emery-Dreifuss muscular dystrophy... BeFree 24634512 Detail
0.002 Muscular Dystrophy, Emery-Dreifuss Mutations in FHL1 have been associated with diverse X-linked muscle diseases: sc... BeFree 25274776 Detail
0.002 Blind Vision NA GAD Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
<0.001 Neurodegenerative Disorders NA BeFree Detail
<0.001 Squamous cell carcinoma of skin NA BeFree Detail
<0.001 Carcinogenesis PTX3 activates and regulates the Complement cascade by interacting with C1q and ... BeFree 25679762 Detail
0.126 Membranoproliferative Glomerulonephritis, Type II Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) w... BeFree 21270465 Detail
0.131 Exudative age-related macular degeneration To investigate whether the polymorphism rs800292 (184G&gt;A, I62V) in the comple... BeFree 24520367 Detail
0.480 age related macular degeneration Common polymorphisms in complement alternative pathway (AP) proteins C3 (C3(R102... BeFree 21555552 Detail
0.480 age related macular degeneration An example is the polymorphism Ile62Val (rs800292 (A&gt;G)) in the complement re... BeFree 21899915 Detail
0.480 age related macular degeneration Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphis... BeFree 18252712 Detail
0.126 Membranoproliferative Glomerulonephritis, Type II Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphis... BeFree 18252712 Detail
0.480 age related macular degeneration Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) w... BeFree 21270465 Detail
0.480 age related macular degeneration Complement factor H Val62Ile variant and risk of age-related macular degeneratio... BeFree 23441108 Detail
0.480 age related macular degeneration Association between complement factor H Val62Ile polymorphism and age-related ma... BeFree 24440287 Detail
<0.001 prostate carcinoma NA BeFree Detail
0.054 Choroidal Neovascularization NA GAD,LHGDN Detail
<0.001 Progressive Neoplastic Disease NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 Acute anterior uveitis NA BeFree Detail
0.241 BASAL LAMINAR DRUSEN (disorder) Analysis of rare variants in the CFH gene in patients with the cuticular drusen ... BeFree,CLINVAR,CTD_human 25814826 Detail
<0.001 Chronic central serous chorioretinopathy Intriguingly, alleles in ARMS2 and CFH that confer risk of AMD may be protective... BeFree 25439433 Detail
<0.001 Chronic central serous chorioretinopathy Chronic central serous chorioretinopathy (cCSC) has recently been associated to ... BeFree 26305533 Detail
<0.001 Disorder of macula of retina NA BeFree Detail
<0.001 Middle Cerebral Artery Occlusion NA BeFree Detail
<0.001 HIV nephropathy NA BeFree Detail
<0.001 Cancer of Digestive System Our results suggest that miR-410 may function as an oncomiR and are consistent w... BeFree 25272045 Detail
<0.001 Idiopathic Inflammatory Myopathies Importantly, these results indicate that anti-FHL1 autoantibodies in peripheral ... BeFree 26551678 Detail
<0.001 Muscle fibrosis In the current study, FRG1 mice overexpressing FHL1 showed an improvement in the... BeFree 25695429 Detail
<0.001 Cardiomyopathies NA BeFree Detail
0.002 Chlamydophila Infections NA GAD Detail
0.003 Ischemic stroke NA BeFree,GAD Detail
<0.001 Neuroborreliosis NA BeFree Detail
<0.001 Monoclonal Gammapathies Finally, anti-FH Abs were frequently associated with the presence of C3 nephriti... BeFree 25917093 Detail
<0.001 Myxoid cyst FHL1 was expressed in the ganglion cells of the myenteric plexus, submucosa, as ... BeFree 24516350 Detail
0.001 Congenital Thrombotic Thrombocytopenic Purpura Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-r... BeFree 24904082 Detail
<0.001 Diarrhea-negative hemolytic uremic syndrome NA BeFree Detail
<0.001 Postoperative confusion NA BeFree Detail
<0.001 renal carcinoma NA BeFree Detail
<0.001 Renal disease (acute) NOS NA BeFree Detail
<0.001 Multifocal choroiditis NA BeFree Detail
0.007 Geographic Atrophy NA BeFree,GAD Detail
<0.001 Chronic Kidney Diseases NA BeFree Detail
<0.001 Alport syndrome NA BeFree Detail
<0.001 Alport Syndrome, X-Linked NA BeFree Detail
0.003 Soft drusen NA BeFree,GAD Detail
0.120 Membranoproliferative Glomerulonephritis, Type III NA ORPHANET Detail
<0.001 Familial Thrombotic Thrombocytopenic Purpura NA BeFree Detail
0.004 coronary artery disease NA BeFree,GAD Detail
0.002 exudative macular degeneration NA GAD Detail
<0.001 liver carcinoma NA BeFree Detail
0.004 Chronic kidney disease stage 5 NA BeFree Detail
<0.001 myofibrillar myopathy NA BeFree Detail
0.003 Thrombotic Microangiopathies NA BeFree Detail
0.001 scapuloperoneal myopathy FHL1 mutations cause several clinically heterogeneous myopathies, including redu... BeFree 24634512 Detail
<0.001 Hirschsprung disease 1 Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's d... BeFree 24516350 Detail
<0.001 Idiopathic pulmonary arterial hypertension NA BeFree Detail
<0.001 Nonalcoholic Steatohepatitis In contrast, factor H mRNA was downregulated in patients with NASH (1.00±0.09 vs... BeFree 25299043 Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
<0.001 Complement Factor I (C3 inactivator) deficiency NA BeFree Detail
<0.001 Progressive cGVHD NA BeFree Detail
<0.001 Unspecified visual loss NA BeFree Detail
0.003 Infection NA LHGDN Detail
0.002 Dowling-Degos disease NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
<0.001 adenoma NA BeFree Detail
<0.001 Afibrinogenemia NA BeFree Detail
0.010 Alzheimer's disease NA BeFree,GAD,LHGDN Detail
<0.001 anemia NA BeFree Detail
0.001 Anemia, Hemolytic NA BeFree Detail
0.002 Angiomatosis NA GAD Detail
0.001 arteriosclerosis NA BeFree Detail
0.001 rheumatoid arthritis NA BeFree Detail
0.002 ataxia telangiectasia NA GAD Detail
0.011 atherosclerosis NA BeFree,GAD Detail
<0.001 Autoimmune Diseases NA BeFree Detail
<0.001 Bacteremia NA BeFree Detail
<0.001 Bacterial Infections NA BeFree Detail
0.003 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
<0.001 renal cell carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
However, hypertrophic cardiomyopathy (HCM) and Emery-Dreifuss muscular dystrophy (EDMD) FHL1 mutants... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our cases highlight the complexity of diagnosing DEAP-HUS due to the common occurrence of diarrhea i... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk allele number in the... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The clinical spectrum of hemolytic uremic syndrome secondary to complement factor H autoantibodies. DisGeNET Detail
A 'silent', new polymorphism of factor H and apparent de novo atypical haemolytic uraemic syndrome a... DisGeNET Detail
Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's disease. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The association with the CFH Y402 risk allele was less pronounced in RAP patients than in 'non-RAP' ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Binding of human factor H to outer membrane protein P5 of non-typeable Haemophilus influenzae contri... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The sexual forms of the malaria parasites recruit the soluble human complement regulator Factor H to... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The prevention of meningococcal disease may be improved by recombinant vaccines such as 4CMenB and r... DisGeNET Detail
These data may explain the association between genetic variation in both CFH and CFHR3 and susceptib... DisGeNET Detail
The CFH-CFHR3-CFHR1 aHUS-risk haplotype seems to be the same as was previously associated with prote... DisGeNET Detail
NA DisGeNET Detail
Finally, anti-FH Abs were frequently associated with the presence of C3 nephritic factor in child GP... DisGeNET Detail
NA DisGeNET Detail
Anti-FHL1 reactivity was predictive for muscle atrophy, dysphagia, pronounced muscle fiber damage, a... DisGeNET Detail
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myob... DisGeNET Detail
Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal (SP) m... DisGeNET Detail
Together, our findings provide evidence that FHL1 may be involved in the pathogenesis not only of ge... DisGeNET Detail
Therefore, increased FRG1 expression may contribute to a muscular dystrophy phenotype resembling FSH... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Moreover, immunization of myositis-prone mice with FHL1 aggravated muscle weakness and increased mor... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Paradoxically, bound FH is cleaved by T. denticola's dentilisin protease, a process hypothesized to ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally defined in the pediatric l... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally defined in the pediatric l... DisGeNET Detail
Of the 9 human STEC O26:H11/H- strains, two belonged to ST29 and were isolated from two children wit... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Of the 9 human STEC O26:H11/H- strains, two belonged to ST29 and were isolated from two children wit... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Flicker-induced retinal vasodilatation is not dependent on complement factor H polymorphism in healt... DisGeNET Detail
FHL1 was expressed in the ganglion cells of the myenteric plexus, submucosa, as well as in the longi... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We therefore advocate a low threshold for testing CFH autoantibodies in ambiguous cases where there ... DisGeNET Detail
Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally defined in the pediatric l... DisGeNET Detail
NA DisGeNET Detail
Moreover, immunization of myositis-prone mice with FHL1 aggravated muscle weakness and increased mor... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-related proteins (FHR... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Presentation of aHUS, particularly, DEAP-HUS is associated with a diarrheal prodrome in up to 53% of... DisGeNET Detail
Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally defined in the pediatric l... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Of the 9 human STEC O26:H11/H- strains, two belonged to ST29 and were isolated from two children wit... DisGeNET Detail
FHL1 is an important tumor-suppressor that is downregulated in multiple tumors by unknown mechanisms... DisGeNET Detail
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype wit... DisGeNET Detail
Finally, anti-FH Abs were frequently associated with the presence of C3 nephritic factor in child GP... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Protein aggregates, designated 'reducing bodies', that contain mutant FHL1 are detected in RBM muscl... DisGeNET Detail
NA DisGeNET Detail
Association of Smoking and CFH and ARMS2 Risk Variants With Younger Age at Onset of Neovascular Age-... DisGeNET Detail
In this study, we found that the interaction of ARMS2 and ARMS2/HTRA1 is significantly associated wi... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Shiga toxin-producing Escherichia coli (STEC) O26 infections can be comparable with STEC O157 infect... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significan... DisGeNET Detail
The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CFH I62V rs800292, and... DisGeNET Detail
Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV wi... DisGeNET Detail
The presence or absence of RPD was studied among 408 patients with exudative AMD in at least one eye... DisGeNET Detail
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Moreover, immunization of myositis-prone mice with FHL1 aggravated muscle weakness and increased mor... DisGeNET Detail
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Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the genes encoding emerin, lamins... DisGeNET Detail
However, hypertrophic cardiomyopathy (HCM) and Emery-Dreifuss muscular dystrophy (EDMD) FHL1 mutants... DisGeNET Detail
Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal (SP) m... DisGeNET Detail
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PTX3 activates and regulates the Complement cascade by interacting with C1q and with Factor H. PTX3 ... DisGeNET Detail
Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-termi... DisGeNET Detail
To investigate whether the polymorphism rs800292 (184G&gt;A, I62V) in the complement factor H gene i... DisGeNET Detail
Common polymorphisms in complement alternative pathway (AP) proteins C3 (C3(R102G)), factor B (fB(R3... DisGeNET Detail
An example is the polymorphism Ile62Val (rs800292 (A&gt;G)) in the complement regulator Factor H gen... DisGeNET Detail
Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protec... DisGeNET Detail
Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protec... DisGeNET Detail
Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-termi... DisGeNET Detail
Complement factor H Val62Ile variant and risk of age-related macular degeneration: a meta-analysis. DisGeNET Detail
Association between complement factor H Val62Ile polymorphism and age-related macular degeneration s... DisGeNET Detail
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Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-relat... DisGeNET Detail
Intriguingly, alleles in ARMS2 and CFH that confer risk of AMD may be protective for cCSC, and allel... DisGeNET Detail
Chronic central serous chorioretinopathy (cCSC) has recently been associated to variants in the comp... DisGeNET Detail
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Our results suggest that miR-410 may function as an oncomiR and are consistent with its key function... DisGeNET Detail
Importantly, these results indicate that anti-FHL1 autoantibodies in peripheral blood have promising... DisGeNET Detail
In the current study, FRG1 mice overexpressing FHL1 showed an improvement in the dystrophic phenotyp... DisGeNET Detail
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Finally, anti-FH Abs were frequently associated with the presence of C3 nephritic factor in child GP... DisGeNET Detail
FHL1 was expressed in the ganglion cells of the myenteric plexus, submucosa, as well as in the longi... DisGeNET Detail
Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-related proteins (FHR... DisGeNET Detail
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FHL1 mutations cause several clinically heterogeneous myopathies, including reducing body myopathy (... DisGeNET Detail
Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's disease. DisGeNET Detail
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In contrast, factor H mRNA was downregulated in patients with NASH (1.00±0.09 vs. 0.71±0.06; p<0.05)... DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386614680 dbSNP
Genome
hg38
Position
chr1:196,651,754-196,752,476
Variant Type
snv
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