Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 10 of 33)
Gene | UniProt | Protein Type | Disease |
---|---|---|---|
ENTPD1 | P49961 | non-pleiotropic | Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683] |
EOGT | Q5NDL2 | non-pleiotropic | Adams-Oliver syndrome 4 (AOS4) [MIM:615297] |
EPAS1 | Q99814 | non-pleiotropic | Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] |
EPB41L1 | Q9H4G0 | non-pleiotropic | Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257] |
EPB42 | P16452 | non-pleiotropic | Spherocytosis 5 (SPH5) [MIM:612690] |
EPG5 | Q9HCE0 | non-pleiotropic | Vici syndrome (VICIS) [MIM:242840] |
EPHA2 | P29317 | non-pleiotropic | Cataract 6, multiple types (CTRCT6) [MIM:116600] |
EPHB2 | P29323 | non-pleiotropic | Prostate cancer (PC) [MIM:176807] |
EPM2A | O95278 | non-pleiotropic | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
EPOR | P19235 | non-pleiotropic | Erythrocytosis, familial, 1 (ECYT1) [MIM:133100] |
EPX | P11678 | non-pleiotropic | Eosinophil peroxidase deficiency (EPXD) [MIM:261500] |
ERBB4 | Q15303 | non-pleiotropic | Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] |
ERCC1 | P07992 | non-pleiotropic | Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] |
ERCC2 | P18074 | pleiotropic | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] |
ERCC3 | P19447 | pleiotropic | Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
ERCC4 | Q92889 | pleiotropic | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] XFE progeroid syndrome (XFEPS) [MIM:610965] Fanconi anemia complementation group Q (FANCQ) [MIM:615272] Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760] |
ERF | P50548 | non-pleiotropic | Craniosynostosis 4 (CRS4) [MIM:600775] |
ERMARD | Q5T6L9 | non-pleiotropic | Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544] |
ESRRB | O95718 | non-pleiotropic | Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
ETFA | P13804 | non-pleiotropic | Glutaric aciduria 2A (GA2A) [MIM:231680] |
ETFB | P38117 | non-pleiotropic | Glutaric aciduria 2B (GA2B) [MIM:231680] |
ETHE1 | O95571 | non-pleiotropic | Ethylmalonic encephalopathy (EE) [MIM:602473] |
EVC | P57679 | pleiotropic | Acrofacial dysostosis, Weyers type (WAD) [MIM:193530] Ellis-van Creveld syndrome (EVC) [MIM:225500] |
EVC2 | Q86UK5 | non-pleiotropic | Ellis-van Creveld syndrome (EVC) [MIM:225500] |
EXOSC3 | Q9NQT5 | non-pleiotropic | Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] |
EXT2 | Q93063 | non-pleiotropic | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
EYS | Q5T1H1 | non-pleiotropic | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
EZH2 | Q15910 | non-pleiotropic | Weaver syndrome (WVS) [MIM:277590] |
F10 | P00742 | non-pleiotropic | Factor X deficiency (FA10D) [MIM:227600] |
F12 | P00748 | pleiotropic | Factor XII deficiency (FA12D) [MIM:234000] Hereditary angioedema 3 (HAE3) [MIM:610618] |
F13B | P05160 | non-pleiotropic | Factor XIII subunit B deficiency (FA13BD) [MIM:613235] |
F8 | P00451 | non-pleiotropic | Hemophilia A (HEMA) [MIM:306700] |
FA2H | Q7L5A8 | non-pleiotropic | Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319] |
FADD | Q13158 | non-pleiotropic | Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] |
FAH | P16930 | non-pleiotropic | Tyrosinemia 1 (TYRSN1) [MIM:276700] |
FAM111A | Q96PZ2 | pleiotropic | Gracile bone dysplasia (GCLEB) [MIM:602361] Kenny-Caffey syndrome 2 (KCS2) [MIM:127000] |
FAM111B | Q6SJ93 | non-pleiotropic | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] |
FAM126A | Q9BYI3 | non-pleiotropic | Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532] |
FAM20C | Q8IXL6 | non-pleiotropic | Raine syndrome (RNS) [MIM:259775] |
FAN1 | Q9Y2M0 | non-pleiotropic | Interstitial nephritis, karyomegalic (KMIN) [MIM:614817] |
FANCA | O15360 | non-pleiotropic | Fanconi anemia (FA) [MIM:227650] |
FANCD2 | Q9BXW9 | non-pleiotropic | Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] |
FANCG | O15287 | non-pleiotropic | Fanconi anemia complementation group G (FANCG) [MIM:614082] |
FARS2 | O95363 | non-pleiotropic | Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946] |
FAS | P25445 | non-pleiotropic | Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] |
FAT4 | Q6V0I7 | non-pleiotropic | Van Maldergem syndrome 2 (VMLDS2) [MIM:615546] |
FBN1 | P35555 | pleiotropic | Marfan syndrome (MFS) [MIM:154700] Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600] Stiff skin syndrome (SSKS) [MIM:184900] Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185] Acromicric dysplasia (ACMICD) [MIM:102370] |
FBN2 | P35556 | non-pleiotropic | Arthrogryposis, distal, 9 (DA9) [MIM:121050] |
FBP1 | P09467 | non-pleiotropic | Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] |
FBXL4 | Q9UKA2 | non-pleiotropic | Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] |