| Novel |
CASC3
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CASC3 exon junction complex subunit |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| Novel |
CLEC11A
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C-type lectin domain containing 11A |
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| Novel |
MYO1D
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myosin ID |
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| Novel |
SCGB1A1
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secretoglobin family 1A member 1 |
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- 4,4'-BIS([H]METHYLSULFONYL)-2,2',5,5'-TETRACHLOROBIPHENYL
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| Novel |
SLC39A7
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solute carrier family 39 member 7 |
- Zinc influx into cells by the SLC39 gene family
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AQP6
|
aquaporin 6 |
- Passive transport by Aquaporins
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CREB3
|
cAMP responsive element binding protein 3 |
- CREB3 factors activate genes
- CREB3 factors activate genes
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DAPK1
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death associated protein kinase 1 |
- Caspase activation via Dependence Receptors in the absence of ligand
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- 5,6-Dihydro-Benzo[H]Cinnolin-3-Ylamine
- Phosphoaminophosphonic Acid-Adenylate Ester
- 6-(3-AMINOPROPYL)-4,9-DIMETHYLPYRROLO[3,4-C]CARBAZOLE-1,3(2H,6H)-DIONE
- Fostamatinib
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GOPC
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golgi associated PDZ and coiled-coil motif containing |
- RHO GTPases regulate CFTR trafficking
- RHOQ GTPase cycle
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LMNA
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lamin A/C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
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- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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MOSPD2
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motile sperm domain containing 2 |
- Neutrophil degranulation
- RHOD GTPase cycle
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RNF170
|
ring finger protein 170 |
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VAPA
|
VAMP associated protein A |
- Sphingolipid de novo biosynthesis
- Neutrophil degranulation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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VAPB
|
VAMP associated protein B and C |
- Sphingolipid de novo biosynthesis
- RHOA GTPase cycle
- RHOC GTPase cycle
- RAC2 GTPase cycle
- RHOD GTPase cycle
- RHOG GTPase cycle
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- Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
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