Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 25 of 33)
Gene | UniProt | Protein Type | Disease |
---|---|---|---|
RDH5 | Q92781 | non-pleiotropic | Retinitis punctata albescens (RPA) [MIM:136880] |
RDX | P35241 | non-pleiotropic | Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022] |
REEP2 | Q9BRK0 | non-pleiotropic | Spastic paraplegia 72 (SPG72) [MIM:615625] |
RET | P07949 | pleiotropic | Hirschsprung disease 1 (HSCR1) [MIM:142623] Medullary thyroid carcinoma (MTC) [MIM:155240] Multiple neoplasia 2A (MEN2A) [MIM:171400] Pheochromocytoma (PCC) [MIM:171300] Multiple neoplasia 2B (MEN2B) [MIM:162300] Congenital central hypoventilation syndrome (CCHS) [MIM:209880] |
RFT1 | Q96AA3 | non-pleiotropic | Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015] |
RFX6 | Q8HWS3 | non-pleiotropic | Mitchell-Riley syndrome (MTCHRS) [MIM:615710] |
RFXANK | O14593 | non-pleiotropic | Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] |
RGR | P47804 | non-pleiotropic | Retinitis pigmentosa 44 (RP44) [MIM:613769] |
RGS9 | O75916 | non-pleiotropic | Prolonged electroretinal response suppression (PERRS) [MIM:608415] |
RHAG | Q02094 | non-pleiotropic | Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] |
RHBDF2 | Q6PJF5 | non-pleiotropic | Tylosis with esophageal cancer (TOC) [MIM:148500] |
RHO | P08100 | pleiotropic | Retinitis pigmentosa 4 (RP4) [MIM:613731] Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445] |
RIMS1 | Q86UR5 | non-pleiotropic | Cone-rod dystrophy 7 (CORD7) [MIM:603649] |
RIPK4 | P57078 | non-pleiotropic | Popliteal pterygium syndrome, lethal type (PPS-L) [MIM:263650] |
RIT1 | Q92963 | non-pleiotropic | Noonan syndrome 8 (NS8) [MIM:615355] |
RMND1 | Q9NWS8 | non-pleiotropic | Combined oxidative phosphorylation deficiency 11 (COXPD11) [MIM:614922] |
RNASEH2A | O75792 | non-pleiotropic | Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] |
RNASEH2B | Q5TBB1 | non-pleiotropic | Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] |
RNASEH2C | Q8TDP1 | non-pleiotropic | Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] |
RNASET2 | O00584 | non-pleiotropic | Leukoencephalopathy, cystic, without megalencephaly (LCWM) [MIM:612951] |
RNF135 | Q8IUD6 | non-pleiotropic | Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD) [MIM:614192] |
RNF170 | Q96K19 | non-pleiotropic | Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984] |
RNF213 | Q63HN8 | non-pleiotropic | Moyamoya disease 2 (MYMY2) [MIM:607151] |
RNF216 | Q9NWF9 | non-pleiotropic | Gordon Holmes syndrome (GDHS) [MIM:212840] |
ROBO2 | Q9HCK4 | non-pleiotropic | Vesicoureteral reflux 2 (VUR2) [MIM:610878] |
ROBO3 | Q96MS0 | non-pleiotropic | Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] |
RP1L1 | Q8IWN7 | non-pleiotropic | Occult macular dystrophy (OCMD) [MIM:613587] |
RP2 | O75695 | non-pleiotropic | Retinitis pigmentosa 2 (RP2) [MIM:312600] |
RP9 | Q8TA86 | non-pleiotropic | Retinitis pigmentosa 9 (RP9) [MIM:180104] |
RPGRIP1L | Q68CZ1 | pleiotropic | Joubert syndrome 7 (JBTS7) [MIM:611560] COACH syndrome (COACHS) [MIM:216360] Meckel syndrome 5 (MKS5) [MIM:611561] |
RPIA | P49247 | non-pleiotropic | Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611] |
RPL10 | P27635 | non-pleiotropic | Autism, X-linked 5 (AUTSX5) [MIM:300847] |
RPL11 | P62913 | non-pleiotropic | Diamond-Blackfan anemia 7 (DBA7) [MIM:612562] |
RPL35A | P18077 | non-pleiotropic | Diamond-Blackfan anemia 5 (DBA5) [MIM:612528] |
RPL5 | P46777 | non-pleiotropic | Diamond-Blackfan anemia 6 (DBA6) [MIM:612561] |
RPS19 | P39019 | non-pleiotropic | Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] |
RPS26 | P62854 | non-pleiotropic | Diamond-Blackfan anemia 10 (DBA10) [MIM:613309] |
RPS6KA3 | P51812 | pleiotropic | Coffin-Lowry syndrome (CLS) [MIM:303600] Mental retardation, X-linked 19 (MRX19) [MIM:300844] |
RS1 | O15537 | non-pleiotropic | Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700] |
RSPH1 | Q8WYR4 | non-pleiotropic | Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481] |
RSPH4A | Q5TD94 | non-pleiotropic | Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649] |
RSPO4 | Q2I0M5 | non-pleiotropic | Nail disorder, non-syndromic congenital, 4 (NDNC4) [MIM:206800] |
RTEL1 | Q9NZ71 | non-pleiotropic | Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190] |
RTN2 | O75298 | non-pleiotropic | Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805] |
RTTN | Q86VV8 | non-pleiotropic | Polymicrogyria with seizures (PMGYS) [MIM:614833] |
RXFP2 | Q8WXD0 | non-pleiotropic | Cryptorchidism (CRYPTO) [MIM:219050] |
RYR2 | Q92736 | pleiotropic | Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2) [MIM:600996] Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772] |
SACS | Q9NZJ4 | non-pleiotropic | Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] |
SAMD9 | Q5K651 | non-pleiotropic | Tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455] |
SAMHD1 | Q9Y3Z3 | pleiotropic | Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] Chilblain lupus 2 (CHBL2) [MIM:614415] |