|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q07020 |
| Protein name |
Large ribosomal subunit protein eL18 (60S ribosomal protein L18) |
| Protein function |
Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962 |
| PDB |
4UG0
, 4V6X
, 5AJ0
, 5LKS
, 5T2C
, 6IP5
, 6IP6
, 6IP8
, 6LQM
, 6LSR
, 6LSS
, 6LU8
, 6OLE
, 6OLF
, 6OLG
, 6OLI
, 6OLZ
, 6OM0
, 6OM7
, 6QZP
, 6W6L
, 6XA1
, 6Y0G
, 6Y2L
, 6Y57
, 6Y6X
, 6Z6L
, 6Z6M
, 6Z6N
, 6ZM7
, 6ZME
, 6ZMI
, 6ZMO
, 6ZVK
, 7A01
, 7BHP
, 7F5S
, 7OW7
, 7QVP
, 7XNX
, 7XNY
, 8A3D
, 8FKP
, 8FKQ
, 8FKR
, 8FKS
, 8FKT
, 8FKU
, 8FKV
, 8FKW
, 8FKX
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF17135 |
Ribosomal_L18 |
2 → 188 |
Ribosomal protein 60S L18 and 50S L18e |
Family |
|
| Sequence |
|
| Sequence length |
188 |
| Interactions |
View interactions |
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Diamond-Blackfan anemia 18 |
Pathogenic |
rs1568425218 |
RCV000754828 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| ANEMIA, DIAMOND-BLACKFAN |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIAMOND-BLACKFAN ANEMIA |
— |
GWAS catalog, Orphanet
GWAS catalog, Orphanet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RPL18-related disorder |
Uncertain significance; Likely benign; Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| STOMACH NEOPLASMS |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aase Smith syndrome 2 |
Aase-Smith syndrome |
ORPHANET_DG |
28280134 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute leukemia |
Leukemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agranulocytosis |
Agranulocytosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
35766008 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Diamond-Blackfan |
Anemia |
ORPHANET_DG |
28280134 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Diamond-Blackfan |
Anemia |
GENOMICS_ENGLAND_DG |
28280134 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Macrocytic |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blackfan-Diamond anemia |
Blackfan-Diamond Anemia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
8218404 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Diffuse Gastric Cancer |
Gastric Cancer |
CTD_human_DG |
21364753 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Degeneration |
Intervertebral disc disease |
Pubtator |
31124977 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
CTD_human_DG |
21364753 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28253842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Kaposi |
Sarcoma |
Pubtator |
40016701 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
CTD_human_DG |
21364753 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|