Human | HYLS1 | 219844 | hydrolethalus syndrome 1 | |
Human | EVC2 | 132884 | Ellis van Creveld syndrome 2 | |
Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | |
Human | PLEKHG5 | 57449 | pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | GDAP1 | 54332 | ganglioside induced differentiation associated protein 1 | |
Human | FBXO7 | 25793 | F-box protein 7 | |
Human | RAB3GAP2 | 25782 | RAB3 GTPase activating protein subunit 2 (non-catalytic) | |
Human | ALG3 | 10195 | ALG3, alpha-1,3- mannosyltransferase | |
Human | CHST3 | 9469 | carbohydrate (chondroitin 6) sulfotransferase 3 | |
Human | RECQL4 | 9401 | RecQ protein-like 4 | |
Human | CTDP1 | 9150 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 | |
Human | MTMR2 | 8898 | myotubularin related protein 2 | |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | |
Human | GDF5 | 8200 | growth differentiation factor 5 | |
Human | GAN | 8139 | gigaxonin | |
Human | WNT7A | 7476 | wingless-type MMTV integration site family, member 7A | WNT7A gene is unlikely to be a major contributor to the aetiology of familial congenital talipes equinovarus |
Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | |
Human | TPM2 | 7169 | tropomyosin 2 (beta) | |
Human | TNNT3 | 7140 | troponin T type 3 (skeletal, fast) | |
Human | TNNI2 | 7136 | troponin I type 2 (skeletal, fast) | |
Human | TGFBR2 | 7048 | transforming growth factor, beta receptor II (70/80kDa) | |
Human | TGFBR1 | 7046 | transforming growth factor, beta receptor 1 | |