Home
Welcome to
RBP
World!
Species
Families
Diseases
Cancers
Genetic diseases
RNA virus diseases
SARS-CoV-2 virus
Dengue virus
Zika virus
CHIKV virus
HIV virus
IAV virus
RV virus
SINV virus
VEEV virus
Flaviviruses virus
Cov-OC43 virus
Drugs
Functions
Downstream networks
RNA partners
tRNA
mRNA
snoRNA
rRNA
ncRNA
snRNA
Diverse
Moonlighting functions
RNA-binding metabolic enzymes
RNA-binding E3 ligases
RNA-binding DUBs
RNA-binding kinases
DRBPs
Transmemebrane RBPs
Condensates
P-body
Stress granule
Nucleolus
Fibrillar center
Nucleoli
Nucleoli rim
RNA Interactomes
U1
U2
U3
5S
NORAD
RMRP
Tools
RBPredictor
Blast
Datasets
Download
Human
Mouse
Fly
Worm
Arabidopsis
Rice
Contact
Help
Eu
RBP
DB
Eu
RBP
DB2 File List
Genetic disease
Search:
Ensembl ID
Gene symbol
Open Targets Genetics
Clinvar
Gene Burden
Genomics england panel
Gene2Phenotype
UniProt literature
Uniprot variants
Clingen
Orphanet
ENSG00000113569
NUP155
OTG
EVA
GB
N.A.
N.A.
N.A.
UV
N.A.
Orphanet
Showing 1 to 1 of 1 entries
Open Targets Genetics
Clinvar
Gene Burden
Genomics england panel
Gene2Phenotype
UniProt literature
UniProt variants
Clingen
Orphanet
Show
10
20
50
entries
Search:
Disease/phenotype
Publication
Variant ID
P-value
L2G score
Sample size
Appendicular lean mass
Pei YF et al, 2020
5_36803512_T_TA (rs34313173)
1.800e-18
0.149
205513
Height
Wood AR et al, 2014
5_37046524_A_G (rs301901)
4.000e-16
0.091
253288
Appendicular lean mass
Hernandez Cordero AI et al, 2019
5_37012843_A_G (rs299397)
2.000e-13
0.0894
181862
Serum alkaline phosphatase levels
Barton AR et al, 2021
5_37140495_T_A (rs301869)
2.200e-12
0.0748
437896
Appendicular lean mass
Hernandez Cordero AI et al, 2019
5_37588398_A_G (rs1126290)
9.000e-11
0.186
181862
Leg fat percentage (right)
NA
5_37583527_G_A (rs60557043)
5.494e-09
0.139
354811
Leg fat percentage (left)
NA
5_37583527_G_A (rs60557043)
1.910e-08
0.147
354791
Weight
NA
5_37258041_C_T (rs75701263)
3.058e-08
0.106
354838
Height
Tachmazidou I et al, 2017
5_37550094_G_A (rs6883388)
4.000e-08
0.262
57129
Meat-related diet
Niarchou M et al, 2020
5_37081603_A_G (rs300046)
5.000e-08
0.0874
335576
Showing 1 to 10 of 10 entries
Previous
1
Next
Show
10
20
50
entries
Search:
Disease/phenotype
Variant ID (RSID)
rsID
HGVS ID
ClinVar ID
Clinical significance
Review status
Atrial fibrillation
5_37333633_T_C
rs374935918
NC_000005.10:g.37333633T>C
RCV001255007
uncertain significance
no assertion criteria provided
Atrial fibrillation, familial, 15
5_37364341_C_T
NA
NC_000005.10:g.37364341C>T
RCV001788587
benign
criteria provided, single submitter
Atrial fibrillation, familial, 15
5_37341132_C_T
rs148814027
NC_000005.10:g.37341132C>T
RCV001090184
uncertain significance
criteria provided, single submitter
Atrial fibrillation, familial, 15
5_37341164_C_T
rs587777339
NC_000005.10:g.37341164C>T
RCV000114997
pathogenic
no assertion criteria provided
Atrial fibrillation, familial, 15
5_37303351_G_A
rs376467373
NC_000005.10:g.37303351G>A
RCV001334620
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
5_37352827_T_C
NA
NC_000005.10:g.37352827T>C
RCV002969354
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
5_37314215_C_T
NA
NC_000005.10:g.37314215C>T
RCV002873403
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
5_37305209_A_T
NA
NC_000005.10:g.37305209A>T
RCV002912414
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
5_37348553_G_C
NA
NC_000005.10:g.37348553G>C
RCV002869041
uncertain significance
criteria provided, single submitter
Inborn genetic diseases
5_37307310_C_A
NA
NC_000005.10:g.37307310C>A
RCV002804672
uncertain significance
criteria provided, single submitter
Showing 1 to 10 of 28 entries
Previous
1
2
3
Next
Show
10
20
50
entries
Search:
Disease/phenotype
Study ID
Ancestry
P-value
Sample size
autism spectrum disorder
NA
NA
0.00187
14365
Showing 1 to 1 of 1 entries
Previous
1
Next
Show
10
20
50
entries
Search:
Disease/phenotype
Allelic Requirement
Genomics England Panel
Confidence category
Literature
No data available in table
Showing 0 to 0 of 0 entries
Previous
Next
Show
10
20
50
entries
Search:
g2p/phenotype
Functional consequence
Allelic requirement
Panel
Confidence
Literature
No data available in table
Showing 0 to 0 of 0 entries
Previous
Next
Show
10
20
50
entries
Search:
Disease/phenotype
Reported protein
Confidence
Literature
No data available in table
Showing 0 to 0 of 0 entries
Previous
Next
Show
10
20
50
entries
Search:
Disease/phenotype
Reported protein
Variant
Confidence
Literature
Atrial fibrillation, familial, 15
O75694
rs587777339
high
19070573
Showing 1 to 1 of 1 entries
Previous
1
Next
Show
10
20
50
entries
Search:
Disease/phenotype
Study
Allelic requirement
Classification
No data available in table
Showing 0 to 0 of 0 entries
Previous
Next
Show
10
20
50
entries
Search:
Disease/phenotype
Reported protein
Allele origin
Confidence
Literature
Familial atrial fibrillation
nucleoporin 155
germline
Assessed
Assessed
Showing 1 to 1 of 1 entries
Previous
1
Next