SOX5 (SRY-box transcription factor 5)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6660 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SRY-box transcription factor 5 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SOX5 |
SynonymsGene synonyms aliases
|
L-SOX5, L-SOX5B, L-SOX5F, LAMSHF |
ChromosomeChromosome number
|
12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12p12.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after for |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs767241917 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
rs773832380 |
C>A,T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs869025321 |
C>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
rs869312867 |
G>C |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
rs895607185 |
G>A |
Pathogenic |
Stop gained, downstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant |
rs1057518928 |
G>A |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant |
rs1135401816 |
G>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1555141265 |
A>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs1555301854 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
rs1555307370 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
rs1565669269 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs1565669640 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs1591833159 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs1591833497 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs1591833522 |
T>C,G |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs1591833842 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs1591908568 |
T>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs1591908609 |
T>C |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs1591909421 |
G>C |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs1592099396 |
->G |
Pathogenic |
Downstream transcript variant, frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant |
rs1592099852 |
G>A |
Pathogenic |
3 prime UTR variant, stop gained, intron variant, coding sequence variant |
rs1593090725 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
miRTarBase ID |
miRNA |
Experiments |
Reference |
MIRT000960 |
hsa-miR-21-5p |
Western blot, Northern blot |
19013014 |
MIRT000960 |
hsa-miR-21-5p |
qRT-PCR |
19013014 |
MIRT000960 |
hsa-miR-21-5p |
Luciferase reporter assay |
19013014 |
MIRT006327 |
hsa-miR-194-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
22396742 |
MIRT006327 |
hsa-miR-194-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
22396742 |
MIRT006327 |
hsa-miR-194-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
22396742 |
MIRT016813 |
hsa-miR-335-5p |
Microarray |
18185580 |
MIRT023491 |
hsa-miR-1-3p |
Microarray |
18668037 |
MIRT028774 |
hsa-miR-26b-5p |
Microarray |
19088304 |
MIRT000960 |
hsa-miR-21-5p |
Microarray |
18591254 |
MIRT053393 |
hsa-miR-96-5p |
Microarray |
23807165 |
MIRT053638 |
hsa-miR-130a-3p |
Microarray |
22942087 |
MIRT053681 |
hsa-miR-181a-5p |
Microarray |
22942087 |
MIRT054894 |
hsa-miR-132-3p |
Luciferase reporter assay, Western blot |
25305446 |
MIRT054894 |
hsa-miR-132-3p |
Luciferase reporter assay, Western blot |
25305446 |
MIRT054895 |
hsa-miR-15a-5p |
Luciferase reporter assay, Western blot |
25305446 |
MIRT054895 |
hsa-miR-15a-5p |
Luciferase reporter assay, Western blot |
25305446 |
MIRT054896 |
hsa-miR-16-5p |
Luciferase reporter assay, Western blot |
25305446 |
MIRT054896 |
hsa-miR-16-5p |
Luciferase reporter assay, Western blot |
25305446 |
MIRT720548 |
hsa-miR-3607-5p |
HITS-CLIP |
19536157 |
MIRT720547 |
hsa-miR-4783-5p |
HITS-CLIP |
19536157 |
MIRT720546 |
hsa-miR-933 |
HITS-CLIP |
19536157 |
MIRT508327 |
hsa-miR-5580-3p |
HITS-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
HITS-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
HITS-CLIP |
21572407 |
MIRT520979 |
hsa-miR-555 |
HITS-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
HITS-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
HITS-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
HITS-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
HITS-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
HITS-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
HITS-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
20371350 |
MIRT520979 |
hsa-miR-555 |
PAR-CLIP |
20371350 |
MIRT573464 |
hsa-miR-6748-5p |
PAR-CLIP |
20371350 |
MIRT573463 |
hsa-miR-6793-5p |
PAR-CLIP |
20371350 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
20371350 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
20371350 |
MIRT573462 |
hsa-miR-6759-5p |
PAR-CLIP |
20371350 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
20371350 |
MIRT572337 |
hsa-miR-3529-3p |
PAR-CLIP |
20371350 |
MIRT572336 |
hsa-miR-4704-5p |
PAR-CLIP |
20371350 |
MIRT534099 |
hsa-miR-136-3p |
PAR-CLIP |
20371350 |
MIRT534098 |
hsa-miR-374a-3p |
PAR-CLIP |
20371350 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
20371350 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
20371350 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
20371350 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
20371350 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
20371350 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
21572407 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
21572407 |
MIRT534099 |
hsa-miR-136-3p |
PAR-CLIP |
22012620 |
MIRT534098 |
hsa-miR-374a-3p |
PAR-CLIP |
22012620 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
23446348 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
23446348 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
23446348 |
MIRT520979 |
hsa-miR-555 |
PAR-CLIP |
23446348 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
23446348 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
23446348 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
23446348 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
23446348 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
23446348 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
23446348 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
23446348 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
23446348 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
23446348 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
23446348 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
23446348 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
23446348 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
23446348 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
23446348 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
23446348 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
23446348 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
23446348 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
23446348 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
22100165 |
MIRT441399 |
hsa-miR-4766-5p |
PAR-CLIP |
22100165 |
MIRT441398 |
hsa-miR-3926 |
PAR-CLIP |
22100165 |
MIRT441397 |
hsa-miR-548s |
PAR-CLIP |
22100165 |
MIRT441396 |
hsa-miR-4288 |
PAR-CLIP |
22100165 |
MIRT441395 |
hsa-miR-632 |
PAR-CLIP |
22100165 |
MIRT441394 |
hsa-miR-1231 |
PAR-CLIP |
22100165 |
MIRT720548 |
hsa-miR-3607-5p |
HITS-CLIP |
19536157 |
MIRT720547 |
hsa-miR-4783-5p |
HITS-CLIP |
19536157 |
MIRT720546 |
hsa-miR-933 |
HITS-CLIP |
19536157 |
MIRT508327 |
hsa-miR-5580-3p |
HITS-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
HITS-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
HITS-CLIP |
21572407 |
MIRT520979 |
hsa-miR-555 |
HITS-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
HITS-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
HITS-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
HITS-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
HITS-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
HITS-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
HITS-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
20371350 |
MIRT520979 |
hsa-miR-555 |
PAR-CLIP |
20371350 |
MIRT573464 |
hsa-miR-6748-5p |
PAR-CLIP |
20371350 |
MIRT573463 |
hsa-miR-6793-5p |
PAR-CLIP |
20371350 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
20371350 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
20371350 |
MIRT573462 |
hsa-miR-6759-5p |
PAR-CLIP |
20371350 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
20371350 |
MIRT572337 |
hsa-miR-3529-3p |
PAR-CLIP |
20371350 |
MIRT572336 |
hsa-miR-4704-5p |
PAR-CLIP |
20371350 |
MIRT534099 |
hsa-miR-136-3p |
PAR-CLIP |
20371350 |
MIRT534098 |
hsa-miR-374a-3p |
PAR-CLIP |
20371350 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
20371350 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
20371350 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
20371350 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
20371350 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
20371350 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
21572407 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
21572407 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
21572407 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
21572407 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
21572407 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
21572407 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
21572407 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
21572407 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
21572407 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
21572407 |
MIRT534099 |
hsa-miR-136-3p |
PAR-CLIP |
22012620 |
MIRT534098 |
hsa-miR-374a-3p |
PAR-CLIP |
22012620 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
23446348 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
23446348 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
23446348 |
MIRT520979 |
hsa-miR-555 |
PAR-CLIP |
23446348 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
23446348 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
23446348 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
23446348 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
23446348 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
23446348 |
MIRT508327 |
hsa-miR-5580-3p |
PAR-CLIP |
23446348 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
23446348 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
23446348 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
23446348 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
23446348 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
23446348 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
23446348 |
MIRT508326 |
hsa-miR-574-5p |
PAR-CLIP |
23446348 |
MIRT503329 |
hsa-miR-5011-5p |
PAR-CLIP |
23446348 |
MIRT503328 |
hsa-miR-511-3p |
PAR-CLIP |
23446348 |
MIRT503327 |
hsa-miR-223-5p |
PAR-CLIP |
23446348 |
MIRT503326 |
hsa-miR-6867-5p |
PAR-CLIP |
23446348 |
MIRT503325 |
hsa-miR-190a-3p |
PAR-CLIP |
23446348 |
MIRT503324 |
hsa-miR-3924 |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
23446348 |
MIRT441400 |
hsa-miR-1277-5p |
PAR-CLIP |
22100165 |
MIRT441399 |
hsa-miR-4766-5p |
PAR-CLIP |
22100165 |
MIRT441398 |
hsa-miR-3926 |
PAR-CLIP |
22100165 |
MIRT441397 |
hsa-miR-548s |
PAR-CLIP |
22100165 |
MIRT441396 |
hsa-miR-4288 |
PAR-CLIP |
22100165 |
MIRT441395 |
hsa-miR-632 |
PAR-CLIP |
22100165 |
MIRT441394 |
hsa-miR-1231 |
PAR-CLIP |
22100165 |
MIRT1380639 |
hsa-miR-4694-5p |
CLIP-seq |
|
MIRT1380640 |
hsa-miR-4787-5p |
CLIP-seq |
|
MIRT1922990 |
hsa-miR-4773 |
CLIP-seq |
|
MIRT1922991 |
hsa-miR-513a-3p |
CLIP-seq |
|
MIRT1922992 |
hsa-miR-593 |
CLIP-seq |
|
MIRT1922993 |
hsa-miR-654-3p |
CLIP-seq |
|
MIRT1922990 |
hsa-miR-4773 |
CLIP-seq |
|
MIRT2336923 |
hsa-miR-569 |
CLIP-seq |
|
MIRT2394984 |
hsa-miR-3187-3p |
CLIP-seq |
|
MIRT2394985 |
hsa-miR-4252 |
CLIP-seq |
|
MIRT2394986 |
hsa-miR-4435 |
CLIP-seq |
|
MIRT2394987 |
hsa-miR-4490 |
CLIP-seq |
|
MIRT2394988 |
hsa-miR-4701-5p |
CLIP-seq |
|
MIRT2394989 |
hsa-miR-588 |
CLIP-seq |
|
MIRT2630408 |
hsa-miR-218 |
CLIP-seq |
|
MIRT2394984 |
hsa-miR-3187-3p |
CLIP-seq |
|
MIRT2394985 |
hsa-miR-4252 |
CLIP-seq |
|
MIRT2394986 |
hsa-miR-4435 |
CLIP-seq |
|
MIRT2394987 |
hsa-miR-4490 |
CLIP-seq |
|
MIRT2394988 |
hsa-miR-4701-5p |
CLIP-seq |
|
MIRT2336923 |
hsa-miR-569 |
CLIP-seq |
|
MIRT2394989 |
hsa-miR-588 |
CLIP-seq |
|
MIRT2630409 |
hsa-miR-636 |
CLIP-seq |
|
MIRT2630408 |
hsa-miR-218 |
CLIP-seq |
|
MIRT2394984 |
hsa-miR-3187-3p |
CLIP-seq |
|
MIRT2394985 |
hsa-miR-4252 |
CLIP-seq |
|
MIRT2394986 |
hsa-miR-4435 |
CLIP-seq |
|
MIRT2394987 |
hsa-miR-4490 |
CLIP-seq |
|
MIRT2394988 |
hsa-miR-4701-5p |
CLIP-seq |
|
MIRT2336923 |
hsa-miR-569 |
CLIP-seq |
|
MIRT2394989 |
hsa-miR-588 |
CLIP-seq |
|
MIRT2630409 |
hsa-miR-636 |
CLIP-seq |
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P35711 |
Protein name |
Transcription factor SOX-5 |
Protein function |
Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, includin |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00505 |
HMG_box |
556 → 624 |
HMG (high mobility group) box |
Domain |
|
Sequence |
MLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPN KPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQS GESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAM GSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMEL AKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLL PPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGI PQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPAL RINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGK VAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSES RIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNL EKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYF NVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEP HIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN
|
|
Sequence length |
763 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 |
20062060, 30061737 |
Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder |
rs120074176, rs786205019 |
|
Autism spectrum disorder |
Autism Spectrum Disorders |
rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 |
20808228 |
Azoospermia |
Azoospermia |
rs200969445, rs144567652, rs765353898 |
22197933 |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
|
Epileptic encephalopathy |
Epileptic encephalopathy |
rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325 |
|
Lamb-shaffer syndrome |
LAMB-SHAFFER SYNDROME |
rs869025321, rs1057518845, rs1135401816, rs1555141265, rs767241917, rs1555301854, rs1555307370, rs1565669640, rs1591833159, rs1591833497, rs1591833522, rs1591833842, rs1591908568, rs1591909421, rs895607185, rs1592099396, rs1592099852, rs1593090725, rs1594078334, rs1591908680, rs1940534444 |
26111154 |
Mental retardation |
Intellectual Disability |
rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131 |
|
Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
|
Non-obstructive azoospermia |
Non-obstructive azoospermia |
rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900 |
22197933 |
Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
|
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
26198764, 24287731 |
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
12p12.1 microdeletion syndrome |
12p12.1 microdeletion syndrome |
|
22290657 |
Anxiety disorder |
Anxiety |
|
|
Clinodactyly |
Clinodactyly of fingers, Clinodactyly |
|
|
Congenital epicanthus |
Congenital Epicanthus |
|
|
Congenital pectus carinatum |
Congenital pectus carinatum |
|
|
Developmental and speech delay |
Developmental and speech delay due to SOX5 deficiency |
|
22290657 |
Exotropia |
Exotropia |
|
|
Frontal bossing |
Frontal bossing |
|
|
Gastroesophageal reflux disease |
Gastroesophageal reflux disease |
|
|
Iron deficiency anemia |
Iron deficiency anemia |
|
|
Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
29700475, 30718901, 29942085 |
Motor delay |
Clumsiness - motor delay |
|
|
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
rs199865688, rs397515994, rs757096307 |
20062060 |
Polycystic ovary syndrome |
Polycystic Ovary Syndrome |
|
26284813 |
Posteriorly rotated ear |
Posteriorly rotated ear |
|
|
Scleroderma |
Systemic Scleroderma |
|
21779181 |
Stereotyped behavior |
Stereotyped Behavior |
|
|
Strabismus |
Strabismus |
|
|
Syndactyly of the toes |
2-3 toe syndactyly |
|
|
Thoracolumbar scoliosis |
Thoracolumbar scoliosis |
|
|
|
|
|