| NACA |
Chr12 |
601234 |
gene encodes a protein that associates with BTF3 to form NAC
|
skeletal development |
| PCDHB4 |
Chr5 |
606330 |
a member of the protocadherin beta gene cluster |
cell-cell neural connections |
| PEX5 |
Chr12 |
600414 |
peroxisomal biogenesis factor 5 |
Peroxisome biogenesis disorder 2A, 2B; Rhizomelic chondrodysplasia punctata, type 5 |
| PRR21 |
Chr2 |
- |
- |
- |
| CTBP1 |
Chr4 |
602618 |
gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins |
transcriptional repressor and cellular proliferation |
| FAM47C |
ChrX |
- |
- |
- |
| UBXN11 |
Chr1 |
609151 |
a protein with a divergent C-terminal UBX domain |
affect the actin cytoskeleton and alter cell shape |
| ODF2L |
Chr1 |
- |
- |
- |
| DSPP |
Chr4 |
125485 |
a member of the small integrin-binding ligand N-linked glycoprotein family of proteins |
Deafness, autosomal dominant 39, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II, III |
| PKD2 |
Chr4 |
173910 |
a member of the polycystin protein family |
Polycystic kidney disease 2 |
| KRTAP5-7 |
Chr11 |
- |
- |
- |
| CELA1 |
Chr12 |
130120 |
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin |
evolutionarily silenced in pancreatic acinar cells |
| ACAN |
Chr15 |
155760 |
a member of the aggrecan/versican proteoglycan family |
Osteochondritis dissecans, short stature, and early-onset osteoarthritis; Spondyloepimetaphyseal dysplasia, aggrecan type; Spondyloepiphyseal dysplasia, Kimberley type |
| ESX1 |
ChrX |
300154 |
gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain |
placental development and spermatogenesis |
| BAGE5 |
Chr22 |
- |
- |
- |
| POU3F3 |
Chr2 |
602480 |
a member of the class III POU family of transcription factors |
expressed in the central nervous system |
| ATXN2 |
Chr12 |
601517 |
gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA |
Spinocerebellar ataxia 2; susceptibility to Amyotrophic lateral sclerosis; susceptibility to Parkinson disease, late-onset |
| GPSM1 |
Chr9 |
609491 |
gene encodes a receptor-independent activator of G protein signaling, |
influence the basal activity of G-protein signaling systems |
| MYO15B |
Chr17 |
- |
- |
- |
| OR7E24 |
Chr19 |
- |
- |
- |
| SPACA6P |
Chr19 |
- |
- |
- |
| PDHA1 |
ChrX |
300502 |
a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid cycle |
Pyruvate dehydrogenase E1-alpha deficiency |
