Human | DUP17Q23.1Q23.2 | 100526743 | |
HP RolledUp, OMIM ID: 613618 Category = humanphenotype |
Human | DEL8Q13 | 100526741 | Mesomelia-synostoses syndrome |
HP TAS, OMIM ID: 600383 Category = humanphenotype |
Human | RNU4ATAC | 100151683 | RNA, U4atac small nuclear (U12-dependent splicing) |
HP RolledUp, OMIM ID: 210710 Category = humanphenotype |
Human | SLC34A3 | 142680 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 |
HP RolledUp, OMIM ID: 241530 Category = humanphenotype |
Human | B3GALT6 | 126792 | UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 |
HP RolledUp, OMIM ID: 271640 Category = humanphenotype |
Human | CANT1 | 124583 | calcium activated nucleotidase 1 |
HP TAS, OMIM ID: 251450 Category = humanphenotype |
Human | CYP2R1 | 120227 | cytochrome P450, family 2, subfamily R, polypeptide 1 |
HP RolledUp, OMIM ID: 600081 Category = humanphenotype |
Human | SLC39A13 | 91252 | solute carrier family 39 (zinc transporter), member 13 |
HP RolledUp, OMIM ID: 612350 Category = humanphenotype |
Human | SCARF2 | 91179 | scavenger receptor class F, member 2 |
HP RolledUp, OMIM ID: 600920 Category = humanphenotype |
Human | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase, gamma subunit |
HP RolledUp, OMIM ID: 252605 Category = humanphenotype |
Human | CTC1 | 80169 | CTS telomere maintenance complex component 1 |
HP RolledUp, OMIM ID: 612199 Category = humanphenotype |
Human | CMDR | 64588 | Craniometaphyseal dysplasia, autosomal recessive |
HP RolledUp, OMIM ID: 218400 Category = humanphenotype |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor |
HP RolledUp, OMIM ID: 248800 Category = humanphenotype |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 |
HP RolledUp, OMIM ID: 277590 Category = humanphenotype |
Human | LEPRE1 | 64175 | leucine proline-enriched proteoglycan (leprecan) 1 |
HP RolledUp, OMIM ID: 610915 Category = humanphenotype |
Human | FKBP10 | 60681 | FK506 binding protein 10, 65 kDa |
HP RolledUp, OMIM ID: 610968 Category = humanphenotype |
Human | TRPV4 | 59341 | transient receptor potential cation channel, subfamily V, member 4 |
HP RolledUp, OMIM ID: 156530 Category = humanphenotype
HP RolledUp, OMIM ID: 113500 Category = humanphenotype
HP RolledUp, OMIM ID: 184252 Category = humanphenotype |
Human | RFMN | 57788 | Roifman syndrome |
HP RolledUp, OMIM ID: 300258 Category = humanphenotype |
Human | ANKH | 56172 | ANKH inorganic pyrophosphate transport regulator |
HP RolledUp, OMIM ID: 123000 Category = humanphenotype |
Human | CHD7 | 55636 | chromodomain helicase DNA binding protein 7 |
HP TAS, OMIM ID: 214800 Category = humanphenotype |
Human | DYM | 54808 | dymeclin |
HP RolledUp, OMIM ID: 223800 Category = humanphenotype
HP RolledUp, OMIM ID: 607326 Category = humanphenotype |
Human | RAB23 | 51715 | RAB23, member RAS oncogene family |
HP RolledUp, OMIM ID: 201000 Category = humanphenotype |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome |
HP RolledUp, OMIM ID: 260400 Category = humanphenotype |
Human | BRKS | 50963 | Telopeptide lysyl hydroxylase, bone-specific |
HP RolledUp, OMIM ID: 259450 Category = humanphenotype |
Human | BFHD | 50947 | Beukes familial hip dysplasia |
HP RolledUp, OMIM ID: 142669 Category = humanphenotype |