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NF1 | Neurofibromin 1. (2840 aa) | ||||
SHANK3 | ANK_REP_REGION domain-containing protein. (342 aa) | ||||
PSEN1 | Presenilin; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. Belongs to the peptidase A22A family. (440 aa) | ||||
GSX2 | Homeobox domain-containing protein. (93 aa) | ||||
OTX1 | Orthodenticle homeobox 1. (355 aa) | ||||
HESX1 | HESX homeobox 1. (185 aa) | ||||
GDF7 | Growth differentiation factor 7. (449 aa) | ||||
BBS1 | BBS1 domain-containing protein. (593 aa) | ||||
BBS2 | Bardet-Biedl syndrome 2 protein homolog. (721 aa) | ||||
ZNF335 | Zinc finger protein 335. (1345 aa) | ||||
UCHL5 | Ubiquitin carboxyl-terminal hydrolase. (329 aa) | ||||
SMO | Smoothened, frizzled class receptor; Belongs to the G-protein coupled receptor Fz/Smo family. (788 aa) | ||||
SLC6A4 | Transporter; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. (630 aa) | ||||
FANCD2 | FA complementation group D2. (1453 aa) | ||||
SOS1 | SOS Ras/Rac guanine nucleotide exchange factor 1. (1316 aa) | ||||
EMX1 | Empty spiracles homeobox 1. (258 aa) | ||||
BBS4 | Bardet-Biedl syndrome 4. (506 aa) | ||||
SLC4A10 | Anion exchange protein. (1113 aa) | ||||
PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit alpha; Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ven [...] (411 aa) | ||||
FBXW11 | F-box and WD repeat domain containing 11. (563 aa) | ||||
MKKS | McKusick-Kaufman syndrome. (569 aa) | ||||
FANCC | FA complementation group C. (444 aa) | ||||
VPS51 | VPS51 subunit of GARP complex. (781 aa) |