|
351
|
|
|
FXYD6-FXYD2 readthrough |
FXYD6 |
|
|
352
|
|
|
BIVM-ERCC5 readthrough |
ERCC5-202 |
|
|
353
|
|
|
DNAAF4-CCPG1 readthrough (NMD candidate) |
DYX1C1-CCPG1 |
|
|
354
|
|
|
Formin binding protein 1 pseudogene 1 |
- |
|
|
355
|
|
|
P2RX5-TAX1BP3 readthrough (NMD candidate) |
P2RX5, P2X5 |
|
|
356
|
|
|
APOC4-APOC2 readthrough (NMD candidate) |
APOC4, Apo-CIV, ApoC-IV |
|
|
357
|
|
|
HNRNPUL2-BSCL2 readthrough (NMD candidate) |
- |
|
|
358
|
|
|
C1QTNF3-AMACR readthrough (NMD candidate) |
- |
|
|
359
|
|
|
SUMO1 activating enzyme subunit 1 |
AOS1, HSPC140, SUA1, UBLE1A |
|
|
360
|
|
|
Phenylalanyl-tRNA synthetase subunit beta |
FARSLB, FRSB, HSPC173, NEDBLLA, PheHB, PheRS, RILDBC, RILDBC1, RJBS |
Anemia, Brain calcification, Cerebral atrophy, Cholestasis, Dwarfism, Fatty liver, Gastroesophageal reflux disease, High palate, Hypoalbuminemia, Interstitial lung and liver disease, Liver cirrhosis, Lung diseases, Mental retardation, Microcephaly, Osteopenia, Pancytopenia, Portal hypertension, Rajab interstitial lung disease with brain calcifications, Rickets, Specific learning disorder, Vesicoureteral refluxView all (6 more) |