Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 1 of 33)
Gene | UniProt | Protein Type | Disease |
---|---|---|---|
AAAS | Q9NRG9 | non-pleiotropic | Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] |
AANAT | Q16613 | non-pleiotropic | Delayed sleep phase syndrome (DSPS) [MIM:614163] |
AARS | P49588 | non-pleiotropic | Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287] |
AARS2 | Q5JTZ9 | non-pleiotropic | Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096] |
ABAT | P80404 | non-pleiotropic | GABA transaminase deficiency (GABATD) [MIM:613163] |
ABCA3 | Q99758 | non-pleiotropic | Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] |
ABCB4 | P21439 | pleiotropic | Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] Gallbladder disease 1 (GBD1) [MIM:600803] Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] |
ABCB7 | O75027 | non-pleiotropic | Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] |
ABCC2 | Q92887 | non-pleiotropic | Dubin-Johnson syndrome (DJS) [MIM:237500] |
ABCC6 | O95255 | pleiotropic | Pseudoxanthoma elasticum (PXE) [MIM:264800] Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] |
ABCC8 | Q09428 | pleiotropic | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] Leucine-induced hypoglycemia (LIH) [MIM:240800] |
ABCC9 | O60706 | pleiotropic | Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569] Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050] Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] |
ABCD4 | O14678 | non-pleiotropic | Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857] |
ABCG5 | Q9H222 | non-pleiotropic | Sitosterolemia (STSL) [MIM:210250] |
ABHD5 | Q8WTS1 | non-pleiotropic | Chanarin-Dorfman syndrome (CDS) [MIM:275630] |
ACAD8 | Q9UKU7 | non-pleiotropic | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
ACADM | P11310 | non-pleiotropic | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
ACADS | P16219 | non-pleiotropic | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
ACADSB | P45954 | non-pleiotropic | Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006] |
ACADVL | P49748 | non-pleiotropic | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
ACAN | P16112 | pleiotropic | Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813] Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800] |
ACAT1 | P24752 | non-pleiotropic | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
ACO2 | Q99798 | non-pleiotropic | Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] |
ACOX1 | Q15067 | non-pleiotropic | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] |
ACP5 | P13686 | non-pleiotropic | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
ACSF3 | Q4G176 | non-pleiotropic | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
ACSL4 | O60488 | non-pleiotropic | Mental retardation, X-linked 63 (MRX63) [MIM:300387] |
ACTA2 | P62736 | pleiotropic | Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] Moyamoya disease 5 (MYMY5) [MIM:614042] Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834] |
ACTB | P60709 | pleiotropic | Dystonia, juvenile-onset (DYTJ) [MIM:607371] Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] |
ACTC1 | P68032 | pleiotropic | Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] Atrial septal defect 5 (ASD5) [MIM:612794] |
ACTG1 | P63261 | pleiotropic | Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] |
ACTN1 | P12814 | non-pleiotropic | Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] |
ACTN2 | P35609 | non-pleiotropic | Cardiomyopathy, dilated 1AA (CMD1AA) [MIM:612158] |
ACTN4 | O43707 | non-pleiotropic | Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] |
ACVR1 | Q04771 | non-pleiotropic | Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] |
ACVR2B | Q13705 | non-pleiotropic | Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751] |
ACVRL1 | P37023 | non-pleiotropic | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
ACY1 | Q03154 | non-pleiotropic | Aminoacylase-1 deficiency (ACY1D) [MIM:609924] |
ADAMTS10 | Q9H324 | non-pleiotropic | Weill-Marchesani syndrome 1 (WMS1) [MIM:277600] |
ADAMTS13 | Q76LX8 | non-pleiotropic | Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] |
ADAMTS18 | Q8TE60 | non-pleiotropic | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] |
ADAMTSL2 | Q86TH1 | non-pleiotropic | Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] |
ADAR | P55265 | pleiotropic | Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
ADAT3 | Q96EY9 | non-pleiotropic | Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286] |
ADCK3 | Q8NI60 | non-pleiotropic | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] |
ADCK4 | Q96D53 | non-pleiotropic | Nephrotic syndrome 9 (NPHS9) [MIM:615573] |
ADCY5 | O95622 | non-pleiotropic | Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] |
ADIPOQ | Q15848 | non-pleiotropic | Adiponectin deficiency (ADPND) [MIM:612556] |
ADK | P55263 | non-pleiotropic | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] |
ADSL | P30566 | non-pleiotropic | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |