| ABCA9 |
ATP-binding cassette A9 |
17 |
Pseudoxanthoma elasticum |
Monocyte differentiation; Lipid homeostasis |
ABC transporters |
| ADCK3 |
aarF domain containing kinase 3 |
1 |
Spinocerebellar ataxia |
Protein serine/threonine kinase activity |
|
| ANKRD35 |
Ankyrin repeat domain-containing protein 35 |
1 |
|
Protein binding |
|
| CAD |
CAD trifunctional protein |
2 |
Fibrosarcoma |
Aspartate carbamoyltransferase activity |
Pyrimidine metabolism; Transcription/Ligand-dependent activation of the ESR1/SP pathway |
| CDC27 |
cell division cycle 27 |
17 |
|
Cell cycle checkpoint |
Cell cycle_Regulation of G1/S transition |
| DPRX |
Divergent-paired related homeobox |
19 |
|
Sequence-specific DNA binding TF activity |
|
| FRG2C |
FSHD region gene 2 family, member C |
3 |
|
|
|
| GIMAP6 |
GTPase, IMAP family member 6 |
7 |
|
GTP binding |
|
| HSPBAP1 |
27 kDa heat shock protein-associated protein 1 |
3 |
Intractable epilepsy; Renal carcinoma |
Cellular stress response |
|
| HTR2C |
5-hydroxytryptamine receptor 1C |
X |
Schizophrenia; Migraine; Prader-Willi syndrome; Attention deficit hyperactivity disease |
Phosphatidylinositol phospholipase C activity |
Calcium signaling pathway; Neuroactive ligand-receptor interaction |
| KBTBD3 |
BTB and kelch domain-containing protein 3 |
11 |
|
Protein binding |
|
| KRTAP2-2 |
Keratin-associated protein 2.2 |
17 |
|
Keratin filament |
|
| MLL3 |
Myeloid/lymphoid leukemia3 |
7 |
Leukemia |
Methyltransferase activity |
Lysine degradation |
| MYT1 |
Myelin transcription factor I |
20 |
Dysembryoplastic neuroepithelial tumor; Periventricular leukomalacia |
Oligodendrocyte lineage development |
|
| PCNT |
Pericentrin |
21 |
Seckel syndrome; Microcephaly |
M transition of mitotic cell cycle |
Centrosome maturation |
| PPP2R2B |
Protein phosphatase 2, regulatory subunit B |
5 |
Spinocerebellar ataxia |
Apoptotic process |
mRNA surveillance pathway; Tight junction; Reg'n. of CFTR activity |
| PROSER1 |
Proline and serine rich 1 |
13 |
|
|
|
| TBCK |
TBC1 domain containing kinase |
4 |
|
|
|
| TCP10L2 |
T-complex 10 like prtn. 2 |
6 |
Spina bifida |
Cytosol |
|
| TECTA |
Tectorin alpha |
11 |
Nonsyndromic deafness; Scotoma; Sensorineural hearing loss |
Cell-matrix adhesion |
|
| TFAP2B |
Transcription factor AP-2 beta |
6 |
Patent ductus arteriosus; Skeletal muscle neoplasm |
Cellular ammonia/urea/creatinine homeostasis |
|
| XIAP |
X-linked inhibitor of apoptosis protein |
X |
Leukemia; Lymphoma |
Caspases, apoptosis regulation; inflammation |
Ubiquitin mediated proteolysis; SMAC-mediated apoptosis |
| ZNF778 |
Zinc finger protein 778 |
16 |
KBG syndrome; Learning disability |
Zinc ion binding |
|
