Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 21 of 33)
Gene | UniProt | Protein Type | Disease |
---|---|---|---|
NT5E | P21589 | non-pleiotropic | Calcification of joints and arteries (CALJA) [MIM:211800] |
NTRK2 | Q16620 | non-pleiotropic | Obesity hyperphagia and developmental delay (OHPDD) [MIM:613886] |
NUBPL | Q8TB37 | non-pleiotropic | Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] |
NUP62 | P37198 | non-pleiotropic | Infantile striatonigral degeneration (SNDI) [MIM:271930] |
NYX | Q9GZU5 | non-pleiotropic | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
OAT | P04181 | non-pleiotropic | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] |
OCLN | Q16625 | non-pleiotropic | Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290] |
OCRL | Q01968 | pleiotropic | Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] Dent disease 2 (DD2) [MIM:300555] |
OPCML | Q14982 | non-pleiotropic | Ovarian cancer (OC) [MIM:167000] |
OPN1SW | P03999 | non-pleiotropic | Tritan color blindness (CBT) [MIM:190900] |
ORAI1 | Q96D31 | non-pleiotropic | Immunodeficiency 9 (IMD9) [MIM:612782] |
ORC1 | Q13415 | non-pleiotropic | Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] |
ORC4 | O43929 | non-pleiotropic | Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] |
ORC6 | Q9Y5N6 | non-pleiotropic | Meier-Gorlin syndrome 3 (MGORS3) [MIM:613803] |
OSMR | Q99650 | non-pleiotropic | Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] |
OTC | P00480 | non-pleiotropic | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
OTOG | Q6ZRI0 | non-pleiotropic | Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945] |
OTX2 | P32243 | pleiotropic | Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986] |
OXCT1 | P55809 | non-pleiotropic | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P2RX2 | Q9UBL9 | non-pleiotropic | Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224] |
P2RY12 | Q9H244 | non-pleiotropic | Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821] |
PACS1 | Q6VY07 | non-pleiotropic | Mental retardation, autosomal dominant 17 (MRD17) [MIM:615009] |
PAK3 | O75914 | non-pleiotropic | Mental retardation, X-linked 30 (MRX30) [MIM:300558] |
PAPSS2 | O95340 | non-pleiotropic | Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847] |
PARK7 | Q99497 | non-pleiotropic | Parkinson disease 7 (PARK7) [MIM:606324] |
PAX1 | P15863 | non-pleiotropic | Otofaciocervical syndrome 2 (OFC2) [MIM:615560] |
PAX3 | P23760 | pleiotropic | Waardenburg syndrome 1 (WS1) [MIM:193500] Waardenburg syndrome 3 (WS3) [MIM:148820] Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880] |
PAX5 | Q02548 | non-pleiotropic | Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065] |
PAX6 | P26367 | pleiotropic | Aniridia (AN) [MIM:106210] Peters anomaly (PETAN) [MIM:604229] Foveal hypoplasia 1 (FVH1) [MIM:136520] Coloboma of iris choroid and retina (COI) [MIM:120200] Bilateral optic nerve hypoplasia (BONH) [MIM:165550] |
PAX8 | Q06710 | non-pleiotropic | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] |
PAX9 | P55771 | non-pleiotropic | Tooth agenesis selective 3 (STHAG3) [MIM:604625] |
PC | P11498 | non-pleiotropic | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
PCBD1 | P61457 | non-pleiotropic | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] |
PCCA | P05165 | non-pleiotropic | Propionic acidemia type I (PA-1) [MIM:606054] |
PCCB | P05166 | non-pleiotropic | Propionic acidemia type II (PA-2) [MIM:606054] |
PCDH15 | Q96QU1 | pleiotropic | Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533] Usher syndrome 1F (USH1F) [MIM:602083] Usher syndrome 1D/F (USH1DF) [MIM:601067] |
PCDH19 | Q8TAB3 | non-pleiotropic | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
PCYT1A | P49585 | non-pleiotropic | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] |
PDE6A | P16499 | non-pleiotropic | Retinitis pigmentosa 43 (RP43) [MIM:613810] |
PDE6B | P35913 | pleiotropic | Retinitis pigmentosa 40 (RP40) [MIM:613801] Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500] |
PDE6C | P51160 | non-pleiotropic | Cone dystrophy 4 (COD4) [MIM:613093] |
PDGFRB | P09619 | pleiotropic | Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] Myofibromatosis, infantile 1 (IMF1) [MIM:228550] |
PDHA1 | P08559 | pleiotropic | Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] Leigh syndrome, X-linked (X-LS) [MIM:308930] |
PDHB | P11177 | non-pleiotropic | Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] |
PDK3 | Q15120 | non-pleiotropic | Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905] |
PDSS1 | Q5T2R2 | non-pleiotropic | Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651] |
PDSS2 | Q86YH6 | non-pleiotropic | Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652] |
PDX1 | P52945 | non-pleiotropic | Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392] |
PDYN | P01213 | non-pleiotropic | Spinocerebellar ataxia 23 (SCA23) [MIM:610245] |
PEPD | P12955 | non-pleiotropic | Prolidase deficiency (PD) [MIM:170100] |