Disease ID | Disease name | Source of annotation with CRYAB | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 36 | MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1 |
PS601419 | MYOFIBRILLAR MYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | CRYAB, FLNC, DES, MYOT, LDB3, DNAJB6, BAG3 |
PS116200 | CATARACT | ClinVar, OMIM | link to OMIM | 33 | GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein processing in endoplasmic reticulum | hsa04141 | 5.35 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
tubulin binding | GO:0015631 | 4.1 |
metal ion binding | GO:0046872 | 1.41 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
microtubule binding | GO:0008017 | 4.42 |
structural constituent of eye lens | GO:0005212 | 6.74 |
ion binding | GO:0043167 | 1.36 |
unfolded protein binding | GO:0051082 | 5.13 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein dimerization activity | GO:0046983 | 2.72 |
structural molecule activity | GO:0005198 | 3.1 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |