Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 28 of 33)
Gene | UniProt | Protein Type | Disease |
---|---|---|---|
SLC4A4 | Q9Y6R1 | non-pleiotropic | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278] |
SLC52A2 | Q9HAB3 | non-pleiotropic | Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707] |
SLC5A1 | P13866 | non-pleiotropic | Congenital glucose/galactose malabsorption (GGM) [MIM:606824] |
SLC5A2 | P31639 | non-pleiotropic | Renal glucosuria (GLYS1) [MIM:233100] |
SLC5A5 | Q92911 | non-pleiotropic | Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] |
SLC6A2 | P23975 | non-pleiotropic | Orthostatic intolerance (OI) [MIM:604715] |
SLC6A5 | Q9Y345 | non-pleiotropic | Hyperekplexia 3 (HKPX3) [MIM:614618] |
SLC6A8 | P48029 | non-pleiotropic | Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352] |
SLC7A14 | Q8TBB6 | non-pleiotropic | Retinitis pigmentosa 68 (RP68) [MIM:615725] |
SLC7A7 | Q9UM01 | non-pleiotropic | Lysinuric protein intolerance (LPI) [MIM:222700] |
SLC7A9 | P82251 | non-pleiotropic | Cystinuria (CSNU) [MIM:220100] |
SLC9A3R1 | O14745 | non-pleiotropic | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] |
SLCO2A1 | Q92959 | non-pleiotropic | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441] |
SLURP1 | P55000 | non-pleiotropic | Mal de Meleda (MDM) [MIM:248300] |
SMAD3 | P84022 | non-pleiotropic | Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] |
SMAD4 | Q13485 | pleiotropic | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] Juvenile polyposis syndrome (JPS) [MIM:174900] Myhre syndrome (MYHRS) [MIM:139210] |
SMAD6 | O43541 | non-pleiotropic | Aortic valve disease 2 (AOVD2) [MIM:614823] |
SMAD9 | O15198 | non-pleiotropic | Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342] |
SMARCA2 | P51531 | non-pleiotropic | Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] |
SMARCAL1 | Q9NZC9 | non-pleiotropic | Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] |
SMC1A | Q14683 | non-pleiotropic | Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] |
SMCHD1 | A6NHR9 | non-pleiotropic | Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901] |
SMOC1 | Q9H4F8 | non-pleiotropic | Ophthalmoacromelic syndrome (OAS) [MIM:206920] |
SNIP1 | Q8TAD8 | non-pleiotropic | Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501] |
SNRNP200 | O75643 | non-pleiotropic | Retinitis pigmentosa 33 (RP33) [MIM:610359] |
SNRPE | P62304 | non-pleiotropic | Hypotrichosis 11 (HYPT11) [MIM:615059] |
SNTA1 | Q13424 | non-pleiotropic | Long QT syndrome 12 (LQT12) [MIM:612955] |
SNX10 | Q9Y5X0 | non-pleiotropic | Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] |
SOD1 | P00441 | non-pleiotropic | Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] |
SOX10 | P56693 | pleiotropic | Waardenburg syndrome 2E (WS2E) [MIM:611584] Waardenburg syndrome 4C (WS4C) [MIM:613266] Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] |
SOX17 | Q9H6I2 | non-pleiotropic | Vesicoureteral reflux 3 (VUR3) [MIM:613674] |
SOX18 | P35713 | non-pleiotropic | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] |
SPAST | Q9UBP0 | non-pleiotropic | Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] |
SPATA16 | Q9BXB7 | non-pleiotropic | Spermatogenic failure 6 (SPGF6) [MIM:102530] |
SPECC1L | Q69YQ0 | non-pleiotropic | Facial clefting, oblique, 1 (OBLFC1) [MIM:600251] |
SPG11 | Q96JI7 | non-pleiotropic | Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360] |
SPG7 | Q9UQ90 | non-pleiotropic | Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259] |
SPINT2 | O43291 | non-pleiotropic | Diarrhea 3, secretory sodium, congenital (DIAR3) [MIM:270420] |
SPR | P35270 | non-pleiotropic | Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] |
SPRED1 | Q7Z699 | non-pleiotropic | Neurofibromatosis 1-like syndrome (NFLS) [MIM:611431] |
SPRY4 | Q9C004 | non-pleiotropic | Hypogonadotropic hypogonadism 17 with or without anosmia (HH17) [MIM:615266] |
SPTB | P11277 | non-pleiotropic | Elliptocytosis 3 (EL3) [MIM:182870] |
SPTBN2 | O15020 | non-pleiotropic | Spinocerebellar ataxia 5 (SCA5) [MIM:600224] |
SPTLC1 | O15269 | non-pleiotropic | Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] |
SPTLC2 | O15270 | non-pleiotropic | Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] |
SQSTM1 | Q13501 | non-pleiotropic | Paget disease of bone (PDB) [MIM:602080] |
SRD5A2 | P31213 | non-pleiotropic | Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] |
SRP72 | O76094 | non-pleiotropic | Bone marrow failure syndrome 1 (BMFS1) [MIM:614675] |
SRPX2 | O60687 | non-pleiotropic | Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643] |
ST14 | Q9Y5Y6 | non-pleiotropic | Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400] |