Human | SARS2 | 54938 | seryl-tRNA synthetase 2, mitochondrial |
HP RolledUp, OMIM ID: 613845 Category = humanphenotype |
Human | HPLH1 | 27259 | hemophagocytic lymphohistiocytosis 1 |
HP RolledUp, OMIM ID: 267700 Category = humanphenotype |
Human | KCNE3 | 10008 | potassium voltage-gated channel, Isk-related family, member 3 |
HP RolledUp, OMIM ID: 170500 Category = humanphenotype |
Human | IKBKAP | 8518 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
HP RolledUp, OMIM ID: 223900 Category = humanphenotype |
Human | BSND | 7809 | Bartter syndrome, infantile, with sensorineural deafness (Barttin) |
HP RolledUp, OMIM ID: 602522 Category = humanphenotype |
Human | SCNN1G | 6340 | sodium channel, non-voltage-gated 1, gamma subunit |
HP RolledUp, OMIM ID: 264350 Category = humanphenotype |
Human | SCNN1B | 6338 | sodium channel, non-voltage-gated 1, beta subunit |
HP RolledUp, OMIM ID: 264350 Category = humanphenotype |
Human | SCNN1A | 6337 | sodium channel, non-voltage-gated 1 alpha subunit |
HP RolledUp, OMIM ID: 264350 Category = humanphenotype |
Human | SCN4A | 6329 | sodium channel, voltage-gated, type IV, alpha subunit |
HP RolledUp, OMIM ID: 170500 Category = humanphenotype |
Human | PRF1 | 5551 | perforin 1 (pore forming protein) |
HP RolledUp, OMIM ID: 603553 Category = humanphenotype |
Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe |
HP RolledUp, OMIM ID: 309000 Category = humanphenotype |
Human | NR3C2 | 4306 | nuclear receptor subfamily 3, group C, member 2 |
HP RolledUp, OMIM ID: 177735 Category = humanphenotype |
Human | HMBS | 3145 | hydroxymethylbilane synthase |
HP RolledUp, OMIM ID: 176000 Category = humanphenotype |
Human | STOM | 2040 | stomatin |
HP RolledUp, OMIM ID: 185000 Category = humanphenotype |
Human | SLC26A3 | 1811 | solute carrier family 26 (anion exchanger), member 3 |
HP RolledUp, OMIM ID: 214700 Category = humanphenotype |
Human | CYP11B2 | 1585 | cytochrome P450, family 11, subfamily B, polypeptide 2 |
HP RolledUp, OMIM ID: 610600 Category = humanphenotype
HP RolledUp, OMIM ID: 203400 Category = humanphenotype
HP RolledUp, OMIM ID: 124080 Category = humanphenotype |
Human | CTNS | 1497 | cystinosin, lysosomal cystine transporter |
HP RolledUp, OMIM ID: 219800 Category = humanphenotype |
Human | CPOX | 1371 | coproporphyrinogen oxidase |
HP RolledUp, OMIM ID: 121300 Category = humanphenotype |
Human | CLCNKB | 1188 | chloride channel, voltage-sensitive Kb |
HP RolledUp, OMIM ID: 602522 Category = humanphenotype
HP RolledUp, OMIM ID: 613090 Category = humanphenotype |
Human | CLCNKA | 1187 | chloride channel, voltage-sensitive Ka |
HP RolledUp, OMIM ID: 613090 Category = humanphenotype
HP RolledUp, OMIM ID: 602522 Category = humanphenotype |
Human | CA12 | 771 | carbonic anhydrase XII |
HP RolledUp, OMIM ID: 143860 Category = humanphenotype |
Human | AVPR2 | 554 | arginine vasopressin receptor 2 |
HP RolledUp, OMIM ID: 300539 Category = humanphenotype
HP RolledUp, OMIM ID: 304800 Category = humanphenotype |
Human | AQP2 | 359 | aquaporin 2 (collecting duct) |
HP RolledUp, OMIM ID: 125800 Category = humanphenotype |
Human | NR0B1 | 190 | nuclear receptor subfamily 0, group B, member 1 |
HP RolledUp, OMIM ID: 300200 Category = humanphenotype |