Human | CMT2H | 619496 | Charcot-Marie-Tooth disease, axonal, type 2H |
HP RolledUp, OMIM ID: 607731 Category = humanphenotype |
Human | SBF2 | 81846 | SET binding factor 2 |
HP RolledUp, OMIM ID: 604563 Category = humanphenotype |
Human | SNIP1 | 79753 | Smad nuclear interacting protein 1 |
HP RolledUp, OMIM ID: 614501 Category = humanphenotype |
Human | NMSR | 59333 | Neuropathy, hereditary motor and sensory, Russe type |
HP RolledUp, OMIM ID: 605285 Category = humanphenotype |
Human | MCOLN1 | 57192 | mucolipin 1 |
HP RolledUp, OMIM ID: 252650 Category = humanphenotype |
Human | GJC2 | 57165 | gap junction protein, gamma 2, 47kDa |
HP RolledUp, OMIM ID: 608804 Category = humanphenotype |
Human | POLR3B | 55703 | polymerase (RNA) III (DNA directed) polypeptide B |
HP RolledUp, OMIM ID: 614381 Category = humanphenotype
HP RolledUp, OMIM ID: 607694 Category = humanphenotype |
Human | RMND1 | 55005 | required for meiotic nuclear division 1 homolog (S. cerevisiae) |
HP RolledUp, OMIM ID: 614922 Category = humanphenotype |
Human | GDAP1 | 54332 | ganglioside induced differentiation associated protein 1 |
HP RolledUp, OMIM ID: 214400 Category = humanphenotype |
Human | PHGDH | 26227 | phosphoglycerate dehydrogenase |
HP RolledUp, OMIM ID: 601815 Category = humanphenotype |
Human | POLR3A | 11128 | polymerase (RNA) III (DNA directed) polypeptide A, 155kDa |
HP RolledUp, OMIM ID: 607694 Category = humanphenotype |
Human | TUBB4A | 10382 | tubulin, beta 4A class IVa |
HP RolledUp, OMIM ID: 612438 Category = humanphenotype |
Human | FIG4 | 9896 | FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) |
HP RolledUp, OMIM ID: 611228 Category = humanphenotype |
Human | GPR56 | 9289 | G protein-coupled receptor 56 |
HP RolledUp, OMIM ID: 606854 Category = humanphenotype |
Human | SLC33A1 | 9197 | solute carrier family 33 (acetyl-CoA transporter), member 1 |
HP RolledUp, OMIM ID: 614482 Category = humanphenotype |
Human | CTDP1 | 9150 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 |
HP RolledUp, OMIM ID: 604168 Category = humanphenotype |
Human | MTMR2 | 8898 | myotubularin related protein 2 |
HP RolledUp, OMIM ID: 601382 Category = humanphenotype |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa |
HP RolledUp, OMIM ID: 603896 Category = humanphenotype |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa |
HP RolledUp, OMIM ID: 603896 Category = humanphenotype |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa |
HP RolledUp, OMIM ID: 603896 Category = humanphenotype |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa |
HP RolledUp, OMIM ID: 603896 Category = humanphenotype |
Human | STXBP1 | 6812 | syntaxin binding protein 1 |
HP RolledUp, OMIM ID: 612164 Category = humanphenotype |
Human | SPTAN1 | 6709 | spectrin, alpha, non-erythrocytic 1 |
HP RolledUp, OMIM ID: 613477 Category = humanphenotype |
Human | SOX10 | 6663 | SRY (sex determining region Y)-box 10 |
HP RolledUp, OMIM ID: 611584 Category = humanphenotype
HP RolledUp, OMIM ID: 609136 Category = humanphenotype |
Human | PSAP | 5660 | prosaposin |
HP RolledUp, OMIM ID: 611722 Category = humanphenotype |