Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 26 of 33)
| Gene | UniProt | Protein Type | Disease |
|---|---|---|---|
| SAR1B | Q9Y6B6 | non-pleiotropic | Chylomicron retention disease (CMRD) [MIM:246700] |
| SARDH | Q9UL12 | non-pleiotropic | Sarcosinemia (SARCOS) [MIM:268900] |
| SARS2 | Q9NP81 | non-pleiotropic | Hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) [MIM:613845] |
| SART3 | Q15020 | non-pleiotropic | Disseminated superficial actinic porokeratosis 1 (DSAP1) [MIM:175900] |
| SBDS | Q9Y3A5 | non-pleiotropic | Shwachman-Diamond syndrome (SDS) [MIM:260400] |
| SBF1 | O95248 | non-pleiotropic | Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284] |
| SC5D | O75845 | non-pleiotropic | Lathosterolosis (LATHST) [MIM:607330] |
| SCARB2 | Q14108 | non-pleiotropic | Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900] |
| SCARF2 | Q96GP6 | non-pleiotropic | Van den Ende-Gupta syndrome (VDEGS) [MIM:600920] |
| SCN10A | Q9Y5Y9 | non-pleiotropic | Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551] |
| SCN1A | P35498 | pleiotropic | Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403] Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208] Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634] Febrile seizures, familial, 3A (FEB3A) [MIM:604403] Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] |
| SCN2B | O60939 | non-pleiotropic | Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] |
| SCN3B | Q9NY72 | non-pleiotropic | Brugada syndrome 7 (BRGDA7) [MIM:613120] |
| SCN4A | P35499 | pleiotropic | Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] Periodic paralysis hyperkalemic (HYPP) [MIM:170500] Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] Periodic paralysis normokalemic (NKPP) [MIM:170500] Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345] Myasthenic syndrome, congenital, acetazolamide-responsive (CMSAR) [MIM:614198] |
| SCN4B | Q8IWT1 | non-pleiotropic | Long QT syndrome 10 (LQT10) [MIM:611819] |
| SCN5A | Q14524 | pleiotropic | Long QT syndrome 3 (LQT3) [MIM:603830] Brugada syndrome 1 (BRGDA1) [MIM:601144] Sick sinus syndrome 1 (SSS1) [MIM:608567] Progressive familial heart block 1A (PFHB1A) [MIM:113900] Familial paroxysmal ventricular fibrillation 1 (VF1) [MIM:603829] Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022] Atrial standstill 1 (ATRST1) [MIM:108770] Cardiomyopathy, dilated 1E (CMD1E) [MIM:601154] Sudden infant death syndrome (SIDS) [MIM:272120] |
| SCN9A | Q15858 | pleiotropic | Primary erythermalgia (PERYTHM) [MIM:133020] Paroxysmal extreme pain disorder (PEPD) [MIM:167400] Febrile seizures, familial, 3B (FEB3B) [MIM:613863] Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM:613863] Congenital indifference to pain autosomal recessive (CIPAR) [MIM:243000] |
| SCNN1A | P37088 | pleiotropic | Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350] Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021] |
| SCNN1B | P51168 | pleiotropic | Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350] Liddle syndrome (LIDDS) [MIM:177200] Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] |
| SCO1 | O75880 | non-pleiotropic | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
| SCRIB | Q14160 | non-pleiotropic | Neural tube defects (NTD) [MIM:182940] |
| SDHA | P31040 | pleiotropic | Leigh syndrome (LS) [MIM:256000] Cardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642] Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] Paragangliomas 5 (PGL5) [MIM:614165] |
| SDHAF1 | A6NFY7 | non-pleiotropic | Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] |
| SDHAF2 | Q9NX18 | non-pleiotropic | Paragangliomas 2 (PGL2) [MIM:601650] |
| SEC23A | Q15436 | non-pleiotropic | Craniolenticulosutural dysplasia (CLSD) [MIM:607812] |
| SEC23B | Q15437 | non-pleiotropic | Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] |
| SECISBP2 | Q96T21 | non-pleiotropic | Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698] |
| SEMA3A | Q14563 | non-pleiotropic | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) [MIM:614897] |
| SEPSECS | Q9HD40 | non-pleiotropic | Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811] |
| SEPT12 | Q8IYM1 | non-pleiotropic | Spermatogenic failure 10 (SPGF10) [MIM:614822] |
| SEPT9 | Q9UHD8 | non-pleiotropic | Hereditary neuralgic amyotrophy (HNA) [MIM:162100] |
| SERAC1 | Q96JX3 | non-pleiotropic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739] |
| SERPINA6 | P08185 | non-pleiotropic | Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] |
| SERPINA7 | P05543 | non-pleiotropic | Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] |
| SERPINC1 | P01008 | non-pleiotropic | Antithrombin III deficiency (AT3D) [MIM:613118] |
| SERPIND1 | P05546 | non-pleiotropic | Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] |
| SERPINF2 | P08697 | non-pleiotropic | Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850] |
| SERPING1 | P05155 | non-pleiotropic | Hereditary angioedema (HAE) [MIM:106100] |
| SERPINI1 | Q99574 | non-pleiotropic | Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218] |
| SETBP1 | Q9Y6X0 | pleiotropic | Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] Leukemia, chronic myeloid, atypical (ACML) [MIM:608232] Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] Myelodysplastic syndrome (MDS) [MIM:614286] Leukemia, acute myelogenous (AML) [MIM:601626] |
| SETX | Q7Z333 | pleiotropic | Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433] Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002] |
| SFTPA2 | Q8IWL1 | non-pleiotropic | Pulmonary fibrosis, idiopathic (IPF) [MIM:178500] |
| SFTPB | P07988 | non-pleiotropic | Pulmonary surfactant metabolism dysfunction 1 (SMDP1) [MIM:265120] |
| SFTPC | P11686 | non-pleiotropic | Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913] |
| SGCA | Q16586 | non-pleiotropic | Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099] |
| SGCB | Q16585 | non-pleiotropic | Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286] |
| SGCD | Q92629 | pleiotropic | Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287] Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685] |
| SGCE | O43556 | non-pleiotropic | Dystonia 11 (DYT11) [MIM:159900] |
| SGCG | Q13326 | non-pleiotropic | Limb-girdle muscular dystrophy 2C (LGMD2C) [MIM:253700] |
| SGSH | P51688 | non-pleiotropic | Mucopolysaccharidosis 3A (MPS3A) [MIM:252900] |