Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 24 of 33)
| Gene | UniProt | Protein Type | Disease |
|---|---|---|---|
| PROKR2 | Q8NFJ6 | non-pleiotropic | Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200] |
| PROP1 | O75360 | non-pleiotropic | Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] |
| PRPF3 | O43395 | non-pleiotropic | Retinitis pigmentosa 18 (RP18) [MIM:601414] |
| PRPF31 | Q8WWY3 | non-pleiotropic | Retinitis pigmentosa 11 (RP11) [MIM:600138] |
| PRPF6 | O94906 | non-pleiotropic | Retinitis pigmentosa 60 (RP60) [MIM:613983] |
| PRPF8 | Q6P2Q9 | non-pleiotropic | Retinitis pigmentosa 13 (RP13) [MIM:600059] |
| PRPH2 | P23942 | pleiotropic | Retinitis pigmentosa 7 (RP7) [MIM:608133] Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105] |
| PRPS1 | P60891 | pleiotropic | Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070] ARTS syndrome (ARTS) [MIM:301835] Deafness, X-linked, 1 (DFNX1) [MIM:304500] |
| PRRT2 | Q7Z6L0 | pleiotropic | Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066] Seizures, benign familial infantile 2 (BFIS2) [MIM:605751] |
| PRRX1 | P54821 | non-pleiotropic | Agnathia-otocephaly complex (AGOTC) [MIM:202650] |
| PRSS56 | P0CW18 | non-pleiotropic | Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] |
| PSAT1 | Q9Y617 | non-pleiotropic | Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992] |
| PSEN1 | P49768 | pleiotropic | Alzheimer disease 3 (AD3) [MIM:607822] Frontotemporal dementia (FTD) [MIM:600274] Cardiomyopathy, dilated 1U (CMD1U) [MIM:613694] |
| PSMB8 | P28062 | non-pleiotropic | Nakajo syndrome (NKJO) [MIM:256040] |
| PSPH | P78330 | non-pleiotropic | Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] |
| PSTPIP1 | O43586 | non-pleiotropic | PAPA syndrome (PAPAS) [MIM:604416] |
| PTCH1 | Q13635 | pleiotropic | Basal cell nevus syndrome (BCNS) [MIM:109400] Basal cell carcinoma (BCC) [MIM:605462] Holoprosencephaly 7 (HPE7) [MIM:610828] |
| PTDSS1 | P48651 | non-pleiotropic | Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050] |
| PTEN | P60484 | pleiotropic | Cowden syndrome 1 (CWS1) [MIM:158350] Bannayan-Riley-Ruvalcaba syndrome (BRRS) [MIM:153480] Prostate cancer (PC) [MIM:176807] Lhermitte-Duclos disease (LDD) [MIM:158350] Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] Endometrial cancer (ENDMC) [MIM:608089] Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] |
| PTHLH | P12272 | non-pleiotropic | Brachydactyly E2 (BDE2) [MIM:613382] |
| PTPN11 | Q06124 | pleiotropic | Noonan syndrome 1 (NS1) [MIM:163950] LEOPARD syndrome 1 (LEOPARD1) [MIM:151100] Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] |
| PTPRQ | Q9UMZ3 | non-pleiotropic | Deafness, autosomal recessive, 84A (DFNB84A) [MIM:613391] |
| PTS | Q03393 | non-pleiotropic | Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] |
| PUF60 | Q9UHX1 | non-pleiotropic | Verheij syndrome (VRJS) [MIM:615583] |
| PUS1 | Q9Y606 | non-pleiotropic | Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462] |
| PVRL4 | Q96NY8 | non-pleiotropic | Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) [MIM:613573] |
| PYCR1 | P32322 | pleiotropic | Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940] Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438] |
| PYGL | P06737 | non-pleiotropic | Glycogen storage disease 6 (GSD6) [MIM:232700] |
| PYGM | P11217 | non-pleiotropic | Glycogen storage disease 5 (GSD5) [MIM:232600] |
| QDPR | P09417 | non-pleiotropic | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] |
| RAB18 | Q9NP72 | non-pleiotropic | Warburg micro syndrome 3 (WARBM3) [MIM:614222] |
| RAB23 | Q9ULC3 | non-pleiotropic | Carpenter syndrome 1 (CRPT1) [MIM:201000] |
| RAB27A | P51159 | non-pleiotropic | Griscelli syndrome 2 (GS2) [MIM:607624] |
| RAB33B | Q9H082 | non-pleiotropic | Smith-McCort dysplasia 2 (SMC2) [MIM:615222] |
| RAB40AL | P0C0E4 | non-pleiotropic | Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP) [MIM:300519] |
| RAB7A | P51149 | non-pleiotropic | Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] |
| RAC2 | P15153 | non-pleiotropic | Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203] |
| RAD21 | O60216 | non-pleiotropic | Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701] |
| RAD51 | Q06609 | non-pleiotropic | Breast cancer (BC) [MIM:114480] |
| RAD51C | O43502 | pleiotropic | Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] Fanconi anemia complementation group O (FANCO) [MIM:613390] |
| RANBP2 | P49792 | non-pleiotropic | Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033] |
| RAPSN | Q13702 | pleiotropic | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] Fetal akinesia deformation sequence (FADS) [MIM:208150] |
| RARB | P10826 | non-pleiotropic | Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] |
| RAX | Q9Y2V3 | non-pleiotropic | Microphthalmia, isolated, 3 (MCOP3) [MIM:611038] |
| RBM20 | Q5T481 | non-pleiotropic | Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172] |
| RBM28 | Q9NW13 | non-pleiotropic | Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079] |
| RBP3 | P10745 | non-pleiotropic | Retinitis pigmentosa 66 (RP66) [MIM:615233] |
| RBP4 | P02753 | non-pleiotropic | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147] |
| RBPJ | Q06330 | non-pleiotropic | Adams-Oliver syndrome 3 (AOS3) [MIM:614814] |
| RDH12 | Q96NR8 | non-pleiotropic | Leber congenital amaurosis 13 (LCA13) [MIM:612712] Retinitis pigmentosa 53 (RP53) [MIM:612712] |