| Novel |
DSP
|
desmoplakin |
- Apoptotic cleavage of cell adhesion proteins
- Neutrophil degranulation
- Keratinization
- Formation of the cornified envelope
- RND3 GTPase cycle
- RND1 GTPase cycle
|
- Zinc
- Artenimol
- Zinc acetate
|
- Striate palmoplantar keratoderma
- Skin fragility-woolly hair syndrome
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Naxos disease and Carvajal syndrome
- Epidermolysis bullosa simplex, including: Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM); Epidermolysis bullosa simplex, Koebner type (EBS-K); Epidermolysis bullosa simplex, Weber-Cockayne type (EBS-WC); Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP); Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex, recessive; Epidermolysis bullosa, lethal acantholytic
|
| Novel |
FAM184B
|
family with sequence similarity 184 member B |
|
|
|
| Novel |
FGFBP2
|
fibroblast growth factor binding protein 2 |
- FGFR2b ligand binding and activation
|
|
|
| Novel |
MED28
|
mediator complex subunit 28 |
- PPARA activates gene expression
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- RSV-host interactions
|
|
|
| Novel |
NKX3-2
|
NK3 homeobox 2 |
- Regulation of RUNX2 expression and activity
|
|
- Spondylo-megaepiphyseal-metaphyseal dysplasia
|
| Novel |
SFTPB
|
surfactant protein B |
- Surfactant metabolism
- Defective pro-SFTPB causes SMDP1 and RDS
- Defective CSF2RB causes SMDP5
- Defective CSF2RA causes SMDP4
|
|
- Pulmonary surfactant metabolism dysfunction (SMDP)
|
| Novel |
XYLB
|
xylulokinase |
- Formation of xylulose-5-phosphate
|
|
|
|
CCDC57
|
coiled-coil domain containing 57 |
|
|
|
|
ERCC6
|
ERCC excision repair 6, chromatin remodeling factor |
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- B-WICH complex positively regulates rRNA expression
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- RNA Polymerase I Transcription Initiation
|
|
- Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
- Cockayne syndrome
- Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome
|
|
GALT
|
galactose-1-phosphate uridylyltransferase |
- Defective GALT can cause GALCT
- Galactose catabolism
|
|
|
|
ISG15
|
ISG15 ubiquitin like modifier |
- ISG15 antiviral mechanism
- NS1 Mediated Effects on Host Pathways
- DDX58/IFIH1-mediated induction of interferon-alpha/beta
- Termination of translesion DNA synthesis
- Interferon alpha/beta signaling
- Negative regulators of DDX58/IFIH1 signaling
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- RSV-host interactions
- PKR-mediated signaling
- Modulation of host responses by IFN-stimulated genes
|
|
|
|
POLR1C
|
RNA polymerase I and III subunit C |
- Cytosolic sensors of pathogen-associated DNA
- NoRC negatively regulates rRNA expression
- B-WICH complex positively regulates rRNA expression
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Promoter Escape
- RNA Polymerase III Chain Elongation
- RNA Polymerase I Transcription Termination
- RNA Polymerase III Transcription Termination
- RNA Polymerase III Abortive And Retractive Initiation
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
|
|
- Treacher Collins syndrome
|
|
SPG21
|
SPG21 abhydrolase domain containing, maspardin |
|
|
- Hereditary spastic paraplegia (SPG)
|
|
WBP2
|
WW domain binding protein 2 |
|
|
|