Human | MLSM7 | 100820631 | Myelodysplasia and leukemia syndrome with monosomy 7 |
HP RolledUp, OMIM ID: 252270 Category = humanphenotype |
Human | AMMEC | 100499260 | Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |
HP TAS, OMIM ID: 300194 Category = humanphenotype |
Human | SLEB5 | 100188798 | Systemic lupus erythematosus, susceptibility to, 5 |
HP RolledUp, OMIM ID: 152700 Category = humanphenotype |
Human | TEC | 100124696 | transient erythroblastopenia of childhood |
HP RolledUp, OMIM ID: 227050 Category = humanphenotype |
Human | KTWS | 791122 | Klippel-Trenaunay-Weber syndrome |
HP RolledUp, OMIM ID: 149000 Category = humanphenotype |
Human | MPDMRS | 574047 | Martin-Probst deafness-mental retardation syndrome |
HP RolledUp, OMIM ID: 300519 Category = humanphenotype |
Human | COA5 | 493753 | cytochrome c oxidase assembly factor 5 |
HP RolledUp, OMIM ID: 220110 Category = humanphenotype |
Human | SLEB4 | 404714 | systemic lupus erythematosus, susceptibility to, 4 |
HP RolledUp, OMIM ID: 152700 Category = humanphenotype |
Human | LCRB | 387281 | locus control region, beta |
HP RolledUp, OMIM ID: 613985 Category = humanphenotype
HP RolledUp, OMIM ID: 604131 Category = humanphenotype
HP RolledUp, OMIM ID: 141749 Category = humanphenotype |
Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type |
HP RolledUp, OMIM ID: 251110 Category = humanphenotype |
Human | RAB40AL | 282808 | RAB40A, member RAS oncogene family-like |
HP RolledUp, OMIM ID: 300519 Category = humanphenotype |
Human | NPHP4 | 261734 | nephronophthisis 4 |
HP RolledUp, OMIM ID: 606966 Category = humanphenotype
HP RolledUp, OMIM ID: 606996 Category = humanphenotype |
Human | UNC13D | 201294 | unc-13 homolog D (C. elegans) |
HP RolledUp, OMIM ID: 608898 Category = humanphenotype |
Human | FLCN | 201163 | folliculin |
HP RolledUp, OMIM ID: 144700 Category = humanphenotype |
Human | NLRP7 | 199713 | NLR family, pyrin domain containing 7 |
HP RolledUp, OMIM ID: 231090 Category = humanphenotype |
Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 |
HP RolledUp, OMIM ID: 243800 Category = humanphenotype |
Human | RLS | 192142 | Restless legs syndrome, susceptibility to |
HP RolledUp, OMIM ID: 102300 Category = humanphenotype |
Human | SLEH1 | 170682 | systemic lupus erythematosus with hemolytic anemia 1 |
HP RolledUp, OMIM ID: 152700 Category = humanphenotype |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type |
HP RolledUp, OMIM ID: 251100 Category = humanphenotype |
Human | TMPRSS6 | 164656 | transmembrane protease, serine 6 |
HP RolledUp, OMIM ID: 206200 Category = humanphenotype |
Human | CDAN1 | 146059 | codanin 1 |
HP RolledUp, OMIM ID: 224120 Category = humanphenotype |
Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 |
HP RolledUp, OMIM ID: 610198 Category = humanphenotype |
Human | CYP4F22 | 126410 | cytochrome P450, family 4, subfamily F, polypeptide 22 |
HP RolledUp, OMIM ID: 604777 Category = humanphenotype |
Human | NLRP3 | 114548 | NLR family, pyrin domain containing 3 |
HP RolledUp, OMIM ID: 607115 Category = humanphenotype
HP RolledUp, OMIM ID: 191900 Category = humanphenotype |
Human | DBA2 | 114086 | Diamond-Blackfan anemia 2 |
HP RolledUp, OMIM ID: 105650 Category = humanphenotype |