Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 8 of 33)
| Gene | UniProt | Protein Type | Disease |
|---|---|---|---|
| CUL3 | Q13618 | non-pleiotropic | Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496] |
| CUL4B | Q13620 | non-pleiotropic | Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354] |
| CUL7 | Q14999 | non-pleiotropic | 3M syndrome 1 (3M1) [MIM:273750] |
| CYBA | P13498 | non-pleiotropic | Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690] |
| CYBB | P04839 | pleiotropic | Granulomatous disease, chronic, X-linked (CGD) [MIM:306400] Mycobacteriosis atypical X-linked 2 (AMCBX2) [MIM:300645] |
| CYC1 | P08574 | non-pleiotropic | Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453] |
| CYCS | P99999 | non-pleiotropic | Thrombocytopenia 4 (THC4) [MIM:612004] |
| CYP11A1 | P05108 | non-pleiotropic | Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743] |
| CYP24A1 | Q07973 | non-pleiotropic | Hypercalcemia infantile (HCAI) [MIM:143880] |
| CYP26B1 | Q9NR63 | non-pleiotropic | Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416] |
| CYP27A1 | Q02318 | non-pleiotropic | Cerebrotendinous xanthomatosis (CTX) [MIM:213700] |
| CYP27B1 | O15528 | non-pleiotropic | Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] |
| CYP2R1 | Q6VVX0 | non-pleiotropic | Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081] |
| CYP2U1 | Q7Z449 | non-pleiotropic | Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030] |
| CYP4F22 | Q6NT55 | non-pleiotropic | Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777] |
| CYP4V2 | Q6ZWL3 | non-pleiotropic | Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] |
| D2HGDH | Q8N465 | non-pleiotropic | D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721] |
| DACT1 | Q9NYF0 | non-pleiotropic | Neural tube defects (NTD) [MIM:182940] |
| DAG1 | Q14118 | non-pleiotropic | Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818] |
| DARS | P14868 | non-pleiotropic | Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] |
| DARS2 | Q6PI48 | non-pleiotropic | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
| DBH | P09172 | non-pleiotropic | Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] |
| DBT | P11182 | non-pleiotropic | Maple syrup urine disease 2 (MSUD2) [MIM:248600] |
| DCHS1 | Q96JQ0 | non-pleiotropic | Van Maldergem syndrome 1 (VMLDS1) [MIM:601390] |
| DDB2 | Q92466 | non-pleiotropic | Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] |
| DDC | P20711 | non-pleiotropic | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
| DDHD2 | O94830 | non-pleiotropic | Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033] |
| DDOST | P39656 | non-pleiotropic | Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507] |
| DDR2 | Q16832 | non-pleiotropic | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] |
| DDX11 | Q96FC9 | non-pleiotropic | Warsaw breakage syndrome (WBRS) [MIM:613398] |
| DDX59 | Q5T1V6 | non-pleiotropic | Orofaciodigital syndrome 5 (OFD5) [MIM:174300] |
| DEPDC5 | O75140 | non-pleiotropic | Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364] |
| DES | P17661 | pleiotropic | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765] Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400] |
| DFNB59 | Q0ZLH3 | non-pleiotropic | Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] |
| DGKE | P52429 | non-pleiotropic | Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008] |
| DGUOK | Q16854 | non-pleiotropic | Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] |
| DHCR24 | Q15392 | non-pleiotropic | Desmosterolosis (DESMOS) [MIM:602398] |
| DHCR7 | Q9UBM7 | non-pleiotropic | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
| DHDDS | Q86SQ9 | non-pleiotropic | Retinitis pigmentosa 59 (RP59) [MIM:613861] |
| DHFR | P00374 | non-pleiotropic | Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839] |
| DHODH | Q02127 | non-pleiotropic | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
| DIABLO | Q9NR28 | non-pleiotropic | Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152] |
| DICER1 | Q9UPY3 | pleiotropic | Pleuropulmonary blastoma (PPB) [MIM:601200] Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800] |
| DIS3L2 | Q8IYB7 | non-pleiotropic | Perlman syndrome (PRLMNS) [MIM:267000] |
| DLD | P09622 | non-pleiotropic | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] |
| DLL3 | Q9NYJ7 | non-pleiotropic | Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300] |
| DLX5 | P56178 | non-pleiotropic | Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600] |
| DMD | P11532 | pleiotropic | Duchenne muscular dystrophy (DMD) [MIM:310200] Becker muscular dystrophy (BMD) [MIM:300376] Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045] |
| DMGDH | Q9UI17 | non-pleiotropic | DMGDH deficiency (DMGDHD) [MIM:605850] |
| DNA2 | P51530 | non-pleiotropic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] |