|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2674
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
GDNF family receptor alpha 1 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
GFRA1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
GDNFR, GDNFR-alpha-1, GDNFRA, GFR-ALPHA-1, GFRalpha-1, RET1L, RETL1, RHDA4, TRNR1 |
|
Chromosome
Chromosome number
|
10 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q25.3 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) a |
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Hirschsprung Disease |
Hirschsprung disease, susceptibility to, 1 |
N/A |
N/A |
ClinVar |
| Huntington Disease |
Huntington's disease progression |
N/A |
N/A |
GWAS |
| Migraine with Aura |
Migraine with aura |
N/A |
N/A |
GWAS |
| RENAL HYPODYSPLASIA/APLASIA |
renal hypodysplasia/aplasia 4 |
N/A |
N/A |
GenCC |
| Uveal Melanoma |
Uveal melanoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
26867769 |
| Alzheimer Disease |
Associate
|
25253858 |
| Brain Neoplasms |
Associate
|
10408842 |
| Breast Neoplasms |
Stimulate
|
23351331 |
| Breast Neoplasms |
Associate
|
23650283, 24641868, 33838601 |
| Cakut |
Associate
|
22729463, 36292572 |
| Carcinoma Adenoid Cystic |
Associate
|
33628594 |
| Carcinoma Hepatocellular |
Associate
|
31545220, 33215421 |
| Colorectal Neoplasms |
Associate
|
27566576 |
| Diabetes Gestational |
Associate
|
35721735 |
| Diverticular Diseases |
Inhibit
|
28152033 |
| Diverticulum |
Inhibit
|
28152033 |
| Gingival Diseases |
Associate
|
31743516 |
| Glioblastoma |
Associate
|
26156397 |
| Hereditary renal agenesis |
Associate
|
33020172, 36292572 |
| Hirschsprung Disease |
Associate
|
12065680, 20459765, 33020172 |
| Leukemia |
Associate
|
9108413 |
| Leukemia Myeloid Acute |
Associate
|
33219204 |
| Migraine Disorders |
Associate
|
31842742 |
| Myelodysplastic Syndromes |
Associate
|
33219204 |
| Neoplasm Metastasis |
Associate
|
25009298, 31431673, 36808605 |
| Neoplasms |
Associate
|
10408842, 23544068, 33838601, 36808605 |
| Nerve Degeneration |
Associate
|
25253858 |
| Neuroblastoma |
Associate
|
17388787 |
| Osteosarcoma |
Associate
|
32841458 |
| Pancreatic Neoplasms |
Associate
|
24895587, 32438692 |
| Peripheral Nervous System Diseases |
Associate
|
30648113 |
| Prostatic Neoplasms |
Associate
|
25575823, 35832649 |
| Rectal Neoplasms |
Associate
|
27566576 |
| Stomach Neoplasms |
Associate
|
25009298, 36808605 |
| Tarlov Cysts |
Associate
|
33628594 |
| Thyroid cancer medullary |
Associate
|
23201134 |
| Thyroid Cancer Papillary |
Associate
|
19138047 |
| Thyroid Nodule |
Associate
|
19138047 |
| Venous Thromboembolism |
Associate
|
21463476 |
|