chr10:81315608:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:81,315,608-81,320,163 |
| hg38 | chr10:79,555,852-79,560,407 |
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 |
|---|---|---|---|---|---|
| <0.001 | corneal ulcer | NA | BeFree | Detail | |
| <0.001 | fibrosarcoma | NA | BeFree | Detail | |
| <0.001 | Gaucher disease | NA | BeFree | Detail | |
| <0.001 | Keratitis, Herpetic | NA | BeFree | Detail | |
| <0.001 | hyperinsulinism | NA | BeFree | Detail | |
| <0.001 | influenza | Although further work is required to confirm the specificity and efficacy of SP-... | BeFree | 25184962 | Detail |
| 0.001 | Leukodystrophy, Metachromatic | A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodyst... | BeFree | 24478108 | Detail |
| 0.007 | Lung diseases | Humans express a repertoire of single-amino acid genetic variants of SP-A that m... | BeFree,GAD,LHGDN | 25957169 | Detail |
| 0.003 | Chronic Obstructive Airway Disease | NA | BeFree,GAD | Detail | |
| 0.003 | Lung Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | Meningitis, Pneumococcal | NA | BeFree | Detail | |
| <0.001 | Meningococcal Infections | NA | BeFree | Detail | |
| <0.001 | Mycoplasma Infections | Genetic variation in SP-A2 leads to differential binding to Mycoplasma pneumonia... | BeFree | 25957169 | Detail |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | Pleural effusion disorder | NA | BeFree | Detail | |
| 0.003 | pneumonia | NA | LHGDN | Detail | |
| <0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
| <0.001 | Respiration Disorders | NA | BeFree | Detail | |
| 0.008 | Respiratory Distress Syndrome, Newborn | Human Surfactant Proteins A2 (SP-A2) and B (SP-B) Genes as Determinants of Respi... | BeFree,GAD | 26061924 | Detail |
| 0.001 | Respiratory Syncytial Virus Infections | NA | BeFree | Detail | |
| <0.001 | ankylosing spondylitis | NA | BeFree | Detail | |
| 0.002 | sudden infant death syndrome | NA | GAD | Detail | |
| <0.001 | tuberculosis | NA | BeFree | Detail | |
| <0.001 | Tuberculosis, Pulmonary | To investigate the correlation of single nucleotide polymorphisms (SNPs) in SFTP... | BeFree | 24984162 | Detail |
| 0.002 | urinary tract infection | NA | GAD | Detail | |
| <0.001 | hepatitis E | NA | BeFree | Detail | |
| <0.001 | Small cell carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | congenital heart disease | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Lung Diseases, Interstitial | NA | BeFree | Detail | |
| <0.001 | congenital diaphragmatic hernia | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of lung | DNA methylation profile and expression of surfactant protein A2 gene in lung can... | BeFree | 25514367 | Detail |
| <0.001 | Secondary pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | Vesicular Stomatitis | NA | BeFree | Detail | |
| <0.001 | Breast cancer recurrent | NA | BeFree | Detail | |
| <0.001 | stage, non-small cell lung cancer | NA | BeFree | Detail | |
| <0.001 | High altitude pulmonary edema | NA | BeFree | Detail | |
| <0.001 | MRSA - Methicillin resistant Staphylococcus aureus infection | His MRSA exhibited genotype ST5/spa2(t002)/agr2/SCCmecII/coagulaseII and was neg... | BeFree | 23201322 | Detail |
| 0.002 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Lung Diseases, Obstructive | NA | BeFree | Detail | |
| 0.001 | Carcinoma of lung | DNA methylation profile and expression of surfactant protein A2 gene in lung can... | BeFree | 25514367 | Detail |
| <0.001 | Community acquired pneumonia | NA | BeFree | Detail | |
| <0.001 | Infectious disease of lung | SP-A-deficient mice are more susceptible than wild-type mice to lung infections,... | BeFree | 26163587 | Detail |
| 0.003 | Spondylarthritis | NA | BeFree,GAD | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Chronic Lung Injury | NA | BeFree | Detail | |
| <0.001 | RDS - infants | NA | BeFree | Detail | |
| <0.001 | Congenital Abnormality | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | Expression of SFTPA2 mRNA and total SP-A protein was significantly lower in canc... | BeFree | 25514367 | Detail |
| <0.001 | Arthritis, Psoriatic | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| 0.001 | Aspergillosis, Allergic Bronchopulmonary | NA | BeFree | Detail | |
| <0.001 | asthma | NA | BeFree | Detail | |
| <0.001 | Bacteremia | NA | BeFree | Detail | |
| <0.001 | borderline personality disorder | NA | BeFree | Detail | |
| <0.001 | bronchopulmonary dysplasia | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Although further work is required to confirm the specificity and efficacy of SP-A in therapeutic H1N... | DisGeNET | Detail |
| A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Morocca... | DisGeNET | Detail |
| Humans express a repertoire of single-amino acid genetic variants of SP-A that may be associated wit... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genetic variation in SP-A2 leads to differential binding to Mycoplasma pneumoniae membranes and regu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Human Surfactant Proteins A2 (SP-A2) and B (SP-B) Genes as Determinants of Respiratory Distress Synd... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To investigate the correlation of single nucleotide polymorphisms (SNPs) in SFTPA1 and SFTPA2 genes ... | 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 |
| DNA methylation profile and expression of surfactant protein A2 gene in lung cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| His MRSA exhibited genotype ST5/spa2(t002)/agr2/SCCmecII/coagulaseII and was negative for Panton-Val... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| DNA methylation profile and expression of surfactant protein A2 gene in lung cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| SP-A-deficient mice are more susceptible than wild-type mice to lung infections, and bacterial killi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of SFTPA2 mRNA and total SP-A protein was significantly lower in cancer tissue when compa... | 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 |
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
- -
- Genome
- hg19
- Position
- chr10:81,315,608-81,320,163
- Variant Type
- snv
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