Human | BBS12 | 166379 | Bardet-Biedl syndrome 12 | |
Human | BBS5 | 129880 | Bardet-Biedl syndrome 5 | |
Human | TTC8 | 123016 | tetratricopeptide repeat domain 8 | |
Human | TMEM67 | 91147 | transmembrane protein 67 | |
Human | ARL6 | 84100 | ADP-ribosylation factor-like 6 | |
Human | ADAMTS10 | 81794 | ADAM metallopeptidase with thrombospondin type 1 motif, 10 | |
Human | CEP290 | 80184 | centrosomal protein 290kDa | |
Human | EHMT1 | 79813 | euchromatic histone-lysine N-methyltransferase 1 | |
Human | BBS10 | 79738 | Bardet-Biedl syndrome 10 | |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | SLURP1 | 57152 | secreted LY6/PLAUR domain containing 1 | |
Human | BBS7 | 55212 | Bardet-Biedl syndrome 7 | |
Human | MKS1 | 54903 | Meckel syndrome, type 1 | |
Human | RAB23 | 51715 | RAB23, member RAS oncogene family | |
Human | MRPS16 | 51021 | mitochondrial ribosomal protein S16 | |
Human | BBS9 | 27241 | Bardet-Biedl syndrome 9 | |
Human | TRIM32 | 22954 | tripartite motif containing 32 | |
Human | RAI1 | 10743 | retinoic acid induced 1 | |
Human | CHST3 | 9469 | carbohydrate (chondroitin 6) sulfotransferase 3 | |
Human | NOG | 9241 | noggin | |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | |
Human | GDF5 | 8200 | growth differentiation factor 5 | CDMP1 responsible for Brachydactyly type C Allelic with Grebe syndrome ({200700}), brachydactyly, type C ({113100}), fibular hypoplasia and complex brachydactyly ({228900}) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism brachydactyly type C results from functional haploinsufficiency for GDF5 Heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures Allelic with acromesomelic dysplasia, Hunter-Thompson type ({201250}), brachydactyly, type C ({113100}), and fibular hypoplasia nd complex brachydactyly ({228900}) |
Human | MKKS | 8195 | McKusick-Kaufman syndrome | |
Human | TWIST1 | 7291 | twist basic helix-loop-helix transcription factor 1 | |
Human | RMRP | 6023 | RNA component of mitochondrial RNA processing endoribonuclease | |