chr15:51500254:> Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:51,500,254-51,630,793 |
hg38 | chr15:51,208,057-51,338,596 |
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 | NA | GAD | Detail | |
0.003 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
<0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
<0.001 | cholera | NA | BeFree | Detail | |
0.004 | choriocarcinoma | NA | BeFree,LHGDN | Detail | |
<0.001 | Coenuriasis | NA | BeFree | Detail | |
<0.001 | colorectal carcinoma | NA | BeFree | Detail | |
0.002 | Connective Tissue Diseases | NA | GAD | Detail | |
0.003 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
<0.001 | cryptorchidism | NA | BeFree | Detail | |
0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
0.080 | Diabetic Nephropathy | NA | RGD | Detail | |
<0.001 | Down syndrome | NA | BeFree | Detail | |
0.005 | Endocrine System Diseases | NA | GAD | Detail | |
0.042 | Endometrial Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
0.240 | endometriosis | In the present study, we investigated the pharmacological effects of DNG through... | BeFree,CTD_human,GAD,LHGDN,RGD | 25533385 | Detail |
0.240 | endometriosis | Down-regulation of the CYP19A1 gene in cumulus cells of infertile women with end... | BeFree,CTD_human,GAD,LHGDN,RGD | 25773531 | Detail |
0.120 | Esophageal Neoplasms | NA | CTD_human | Detail | |
0.033 | breast carcinoma | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.120 | Fatty Liver | NA | CTD_human | Detail | |
0.002 | Fetal Diseases | NA | GAD | Detail | |
<0.001 | breast fibrocystic disease | NA | BeFree | Detail | |
0.114 | Malignant neoplasm of breast | We did not observe an association between potential functional genetic polymorph... | BeFree | 23935996 | Detail |
0.120 | Fibrosis | NA | CTD_human | Detail | |
0.002 | Pathological fracture | NA | GAD | Detail | |
<0.001 | Froehlich's Syndrome | NA | BeFree | Detail | |
<0.001 | Psychosexual identity disorder | NA | BeFree | Detail | |
0.003 | glioblastoma | NA | LHGDN | Detail | |
<0.001 | Glioma | All glioma cell lines included here expressed CYP19A1 and letrozole exerted cons... | BeFree | 25695958 | Detail |
<0.001 | Graves Disease | NA | BeFree | Detail | |
0.008 | gynecomastia | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | hepatitis | NA | BeFree | Detail | |
<0.001 | hepatitis A | NA | BeFree | Detail | |
<0.001 | Hernia, Inguinal | NA | BeFree | Detail | |
0.002 | Hyperplasia | NA | GAD | Detail | |
0.088 | Hypertensive disease | NA | BeFree,GAD,LHGDN,RGD | Detail | |
0.120 | hypogonadism | NA | BeFree,CTD_human | Detail | |
0.120 | hypopituitarism | NA | CTD_human | Detail | |
0.080 | hypothyroidism | NA | RGD | Detail | |
0.002 | infertility | NA | GAD | Detail | |
0.125 | Female infertility | NA | CTD_human,GAD | Detail | |
0.005 | male infertility | NA | BeFree,GAD,LHGDN | Detail | |
0.007 | Inflammation | NA | GAD,LHGDN | Detail | |
0.002 | Insulin resistance | NA | GAD | Detail | |
<0.001 | Speech and language disorder | NA | BeFree | Detail | |
0.009 | Fibroid Tumor | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | Leydig cell tumor | NA | BeFree | Detail | |
0.002 | liver cirrhosis | NA | GAD | Detail | |
<0.001 | Liver neoplasms | NA | BeFree | Detail | |
0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
0.006 | Lung Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
0.003 | Lupus Erythematosus, Systemic | NA | BeFree,GAD | Detail | |
0.002 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
0.002 | Mycetoma | NA | GAD | Detail | |
<0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
<0.001 | premature menopause | NA | BeFree | Detail | |
0.002 | Musculoskeletal Diseases | NA | GAD | Detail | |
0.004 | Neoplasm Metastasis | NA | BeFree,LHGDN | Detail | |
<0.001 | Nodule | Both Esr1 and CYP19A1 overexpressing mice responded to letrozole with reduced hy... | BeFree | 25421723 | Detail |
0.016 | obesity | NA | BeFree,GAD | Detail | |
0.002 | Obesity, Morbid | NA | GAD | Detail | |
0.080 | obsessive-compulsive disorder | NA | MGD | Detail | |
0.006 | Degenerative polyarthritis | NA | BeFree,GAD,LHGDN | Detail | |
0.130 | osteoporosis | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
0.009 | Osteoporosis, Postmenopausal | NA | GAD | Detail | |
<0.001 | ovarian carcinoma | NA | BeFree | Detail | |
0.123 | Ovarian Diseases | NA | BeFree,CTD_human | Detail | |
<0.001 | Pain | In the present study, we investigated the pharmacological effects of DNG through... | BeFree | 25533385 | Detail |
0.002 | Parkinson disease | NA | GAD | Detail | |
0.003 | Pelvic Pain | NA | LHGDN | Detail | |
0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
<0.001 | Pituitary Diseases | NA | BeFree | Detail | |
0.080 | placental insufficiency | NA | RGD | Detail | |
0.228 | polycystic ovary syndrome | NA | BeFree,CTD_human,GAD,LHGDN,RGD | Detail | |
0.003 | polyps | NA | LHGDN | Detail | |
0.002 | Precancerous Conditions | NA | GAD | Detail | |
0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
0.133 | Prostatic Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
0.080 | protein-energy malnutrition | NA | RGD | Detail | |
0.002 | Delayed puberty | NA | GAD | Detail | |
0.005 | Precocious Puberty | NA | GAD | Detail | |
0.080 | Reperfusion Injury | NA | RGD | Detail | |
0.002 | Dermatologic disorders | NA | GAD | Detail | |
0.002 | Stomach Neoplasms | NA | GAD | Detail | |
0.001 | Thyroid Neoplasm | NA | BeFree | Detail | |
0.002 | Tobacco use disorder | NA | GAD | Detail | |
<0.001 | Transsexualism | Association study of ERβ, AR, and CYP19A1 genes and MtF transsexualism. | BeFree | 25124466 | Detail |
<0.001 | Turner syndrome | NA | BeFree | Detail | |
0.003 | Uterine Diseases | NA | LHGDN | Detail | |
0.001 | Uterine Fibroids | NA | BeFree | Detail | |
0.002 | Uterine Neoplasms | NA | GAD | Detail | |
<0.001 | Virilism | NA | BeFree | Detail | |
0.003 | ovarian hyperstimulation syndrome | NA | BeFree,GAD | Detail | |
0.002 | Peripheral Vascular Diseases | NA | GAD | Detail | |
0.120 | gestational diabetes | NA | CTD_human | Detail | |
0.006 | Ovarian Failure, Premature | NA | BeFree,GAD | Detail | |
<0.001 | Depressive Symptoms | NA | BeFree | Detail | |
0.002 | Left Ventricular Hypertrophy | NA | GAD | Detail | |
0.003 | Migraine Disorders | NA | BeFree,GAD | Detail | |
0.007 | Premature Birth | NA | GAD | Detail | |
<0.001 | Secondary malignant neoplasm of bone | NA | BeFree | Detail | |
<0.001 | Hyperestrogenism | NA | BeFree | Detail | |
<0.001 | Uterine Polyp | NA | BeFree | Detail | |
<0.001 | Idiopathic osteoporosis | NA | BeFree | Detail | |
<0.001 | Anaplastic carcinoma | NA | BeFree | Detail | |
<0.001 | Undifferentiated carcinoma | NA | BeFree | Detail | |
0.003 | hyperandrogenism | NA | BeFree,GAD | Detail | |
0.003 | endometrial stromal sarcoma | NA | BeFree,LHGDN | Detail | |
<0.001 | adrenal cortical adenoma | NA | BeFree | Detail | |
0.004 | adrenocortical carcinoma | NA | BeFree,LHGDN | Detail | |
<0.001 | Malignant neoplasm of female breast | NA | BeFree | Detail | |
<0.001 | Alcohol withdrawal syndrome | NA | BeFree | Detail | |
<0.001 | Carcinoma of male breast | NA | BeFree | Detail | |
0.003 | Female Pseudohermaphroditism | NA | BeFree,GAD | Detail | |
0.003 | Anaplastic thyroid carcinoma | In the s.c. tumor model, both of the anaplastic thyroid carcinoma cell lines (AR... | BeFree | 25735362 | Detail |
0.120 | Sexual Infantilism | NA | BeFree,CTD_human | Detail | |
0.011 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
0.003 | Disease Progression | NA | LHGDN | Detail | |
<0.001 | Malignant neoplasm of male breast | NA | BeFree | Detail | |
<0.001 | Endometrioma | NA | BeFree | Detail | |
<0.001 | Stage III Breast Cancer AJCC v6 | The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and oper... | BeFree | 25793413 | Detail |
<0.001 | Carcinoma breast stage IV | NA | BeFree | Detail | |
<0.001 | Adenocarcinoma Of Esophagus | NA | BeFree | Detail | |
<0.001 | bilateral breast cancer | NA | BeFree | Detail | |
<0.001 | cervix carcinoma | NA | BeFree | Detail | |
<0.001 | Leydig cell tumor, benign | NA | BeFree | Detail | |
<0.001 | Impaired cognition | NA | BeFree | Detail | |
<0.001 | Idiopathic hirsutism | To investigate the mRNA expression of aromatase enzyme and the other enzymes hav... | BeFree | 26194504 | Detail |
<0.001 | Precocious pubarche | NA | BeFree | Detail | |
<0.001 | Precocious Puberty, Central | We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetr... | BeFree | 24612204 | Detail |
<0.001 | Idiopathic central precocious puberty | We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetr... | BeFree | 24612204 | Detail |
<0.001 | malignant mesothelioma | NA | BeFree | Detail | |
0.051 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
0.002 | thrombophilia | NA | GAD | Detail | |
<0.001 | Bilateral Cryptorchidism | NA | BeFree | Detail | |
0.019 | endometrial carcinoma | NA | BeFree,GAD | Detail | |
<0.001 | dyslexia | NA | BeFree | Detail | |
0.003 | Thyroid carcinoma | NA | BeFree | Detail | |
0.005 | Menopause present (finding) | NA | GAD | Detail | |
<0.001 | Loss of scalp hair | NA | BeFree | Detail | |
<0.001 | Lower Urinary Tract Symptoms | NA | BeFree | Detail | |
0.002 | Carcinogenesis | Overexpression of the aromatase enzyme CYP19 has been implicated in the onset of... | BeFree | 24927687 | Detail |
<0.001 | Tumor Initiation | NA | BeFree | Detail | |
0.007 | prostate carcinoma | NA | BeFree,GAD | Detail | |
0.003 | Hot flushes | NA | BeFree,GAD | Detail | |
0.002 | hepatopulmonary syndrome | NA | GAD | Detail | |
0.002 | Epithelial ovarian cancer | NA | GAD | Detail | |
<0.001 | Carcinoma of lung | NA | BeFree | Detail | |
0.002 | Pregnancy loss | NA | GAD | Detail | |
<0.001 | stomach carcinoma | NA | BeFree | Detail | |
<0.001 | Premenopausal breast cancer | NA | BeFree | Detail | |
0.001 | Oestrogen deficiency | NA | BeFree | Detail | |
0.005 | ovarian neoplasm | NA | LHGDN | Detail | |
<0.001 | Developmental reading disorder | We aimed at discovering single nucleotide variation present in known and new can... | BeFree | 25877001 | Detail |
<0.001 | Metastatic Prostate Carcinoma | NA | BeFree | Detail | |
0.005 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
<0.001 | Dysmetabolic syndrome | NA | BeFree | Detail | |
<0.001 | Conventional Chondrosarcoma | NA | BeFree | Detail | |
0.002 | Testicular Germ Cell Tumor | NA | GAD | Detail | |
0.199 | Mammary Neoplasms | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
0.008 | colorectal cancer | NA | BeFree,GAD | Detail | |
0.080 | Sjogren's syndrome | NA | MGD | Detail | |
0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
<0.001 | Endometrial Polyp | NA | BeFree | Detail | |
<0.001 | Azoospermia, Nonobstructive | NA | BeFree | Detail | |
0.004 | uterine corpus cancer | NA | BeFree | Detail | |
0.240 | Aromatase deficiency | NA | CTD_human,UNIPROT | Detail | |
0.207 | aromatase excess syndrome | Recently, several germline rearrangements at 15q21 have been shown to cause over... | BeFree,GAD,MGD,ORPHANET | 23625277 | Detail |
0.207 | aromatase excess syndrome | Aromatase deficiency in a Chinese adult man caused by novel compound heterozygou... | BeFree,GAD,MGD,ORPHANET | 25301327 | Detail |
0.207 | aromatase excess syndrome | Since 1991, several molecular CYP19A1 gene alterations associated with aromatase... | BeFree,GAD,MGD,ORPHANET | 25415177 | Detail |
<0.001 | malignant neoplasm of breast staging | NA | BeFree | Detail | |
<0.001 | liver carcinoma | NA | BeFree | Detail | |
0.002 | Maduromycosis | NA | GAD | Detail | |
0.002 | Weight Loss Adverse Event | NA | GAD | Detail | |
0.010 | Prostatic Hyperplasia | NA | BeFree,GAD | Detail | |
<0.001 | Stage III Breast Cancer AJCC v7 | The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and oper... | BeFree | 25793413 | Detail |
0.002 | Juvenile arthritis | NA | GAD | Detail | |
0.002 | Infection | NA | GAD | Detail | |
0.002 | Abortion, Habitual | NA | GAD | Detail | |
0.125 | adenocarcinoma | NA | BeFree,CTD_human,GAD | Detail | |
0.080 | Tissue Adhesions | NA | RGD | Detail | |
<0.001 | Tumors of Adrenal Cortex | NA | BeFree | Detail | |
0.002 | alopecia | NA | GAD | Detail | |
0.022 | Alzheimer's disease | NA | BeFree,GAD,LHGDN | Detail | |
0.120 | amenorrhea | NA | CTD_human | Detail | |
0.003 | Anoxia | NA | LHGDN | Detail | |
<0.001 | aortic aneurysm | NA | BeFree | Detail | |
<0.001 | aortic valve insufficiency | Additional studies are needed to clarify the predictive value of other SNPs and ... | BeFree | 26067721 | Detail |
<0.001 | Arthralgia | NA | BeFree | Detail | |
0.003 | rheumatoid arthritis | NA | BeFree,GAD | Detail | |
0.003 | atherosclerosis | NA | LHGDN | Detail | |
0.123 | autistic disorder | NA | BeFree,CTD_human,GAD | Detail | |
0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
<0.001 | bladder neck obstruction | NA | BeFree | Detail | |
0.120 | Bone Resorption | NA | CTD_human | Detail | |
0.004 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
<0.001 | female breast carcinoma | NA | BeFree | Detail | |
<0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
0.002 | Malignant neoplasm of thyroid | NA | BeFree | Detail | |
0.003 | Bronchioloalveolar Adenocarcinoma | NA | BeFree,GAD | Detail | |
<0.001 | Non-small cell lung carcinoma | The biological roles of estrogen receptor 1 (ERS1), estrogen receptor 2 (ERS2), ... | BeFree | 25310221 | Detail |
<0.001 | Carcinoma, Papillary | NA | BeFree | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In the present study, we investigated the pharmacological effects of DNG through these PR isoforms o... | DisGeNET | Detail |
Down-regulation of the CYP19A1 gene in cumulus cells of infertile women with endometriosis. | DisGeNET | Detail |
NA | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We did not observe an association between potential functional genetic polymorphisms in the estrogen... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
All glioma cell lines included here expressed CYP19A1 and letrozole exerted considerable cytotoxicit... | 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 |
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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Both Esr1 and CYP19A1 overexpressing mice responded to letrozole with reduced hyperplastic alveolar ... | 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 |
In the present study, we investigated the pharmacological effects of DNG through these PR isoforms o... | 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 |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Association study of ERβ, AR, and CYP19A1 genes and MtF transsexualism. | 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 |
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 |
NA | DisGeNET | Detail |
In the s.c. tumor model, both of the anaplastic thyroid carcinoma cell lines (ARO and FRO) were high... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breas... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To investigate the mRNA expression of aromatase enzyme and the other enzymes having functional roles... | DisGeNET | Detail |
NA | DisGeNET | Detail |
We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetranucleotide tandem r... | DisGeNET | Detail |
We evaluated the frequency of allelic variants of the CYP19A1 exons and the tetranucleotide tandem r... | 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 |
Overexpression of the aromatase enzyme CYP19 has been implicated in the onset of estrogen-dependent ... | 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 |
We aimed at discovering single nucleotide variation present in known and new candidate genes for dev... | 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 |
Recently, several germline rearrangements at 15q21 have been shown to cause overexpression of the ar... | DisGeNET | Detail |
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations:... | DisGeNET | Detail |
Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have bee... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breas... | 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 |
Additional studies are needed to clarify the predictive value of other SNPs and whether CYP19A1 geno... | 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 |
The biological roles of estrogen receptor 1 (ERS1), estrogen receptor 2 (ERS2), and aromatase (CYP19... | 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
- -
- dbSNP
- rs8175347 dbSNP
- Genome
- hg19
- Position
- chr15:51,500,254-51,630,793
- Variant Type
- snv
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