|
| Gene/locus name | Gene/locus
MIM number | Phenotype/gene function |
|
| RGS7 | 602517 | Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits |
| FH, HLRCC, MCUL1 | 136850 | Leiomyomatosis and renal cell cancer. Fumarase deficiency |
| KMO | 603538 | Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine for synthesis of quinolinic acid |
| OPN3, ECPN | 606695 | Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptors that are expressed in extraocular tissues |
| CHML, REP2 | 118825 | Binds unprenylated Rab proteins |
| EXO1, HEX1 | 606063 | 5′->3′ double-stranded DNA exonuclease activity |
| CEP170, KIAA0470 | 613023 | Plays a role in microtubule organization |
| SDCCAG8, CCCAP, SLSN7 | 613524 | Senior-Loken syndrome 7 |
| AKT3, PKBG, MPPH | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
| ZBTB18, ZNF238, RP58, MRD22 | 608433 | Mental retardation, autosomal dominant 22 |
| ADSS | 103060 | Has an important role in the de novo and salvage pathway of purine nucleotide biosynthesis |
| DESI2, PPPDE1 | 614638 | Protease which may deconjugate SUMO from some substrate proteins |
| COX20, FAM36A | 614698 | Protect as-yet-unassembled Cox2 from degradation |
| HNRNPU | 602869 | Component of the CRD-mediated complex that promotes MYC mRNA stabilization. Binds to pre-mRNA. |
| KIF26B | 614026 | Essential for embryonic kidney development |
| SMYD3 | 608783 | Histone methyltransferase |
| TFB2M | 607055 | Required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM |
| CNST | 613439 | Required for targeting of connexins to the plasma membrane |
| AHCTF1, ELYS | 610853 | Required for the assembly of a functional nuclear pore complex on the surface of chromosomes as nuclei form at the end of mitosis |
| ZNF124 | 194631 | Affiliated with the lncRNA class and may be involved in transcriptional regulation |
| ZNF496, NIZP1, ZFP496 | 613911 | DNA-binding transcription factor that can both act as an activator and a repressor |
| NLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1 | 606416 | CINCA syndrome, Cold-induced autoinflammatory syndrome, familial Muckle-Wells syndrome |
| OR13G1 | 611677 | Odorant receptor (potential) |
|
