Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 9 of 33)
| Gene | UniProt | Protein Type | Disease |
|---|---|---|---|
| DNAAF1 | Q8NEP3 | non-pleiotropic | Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193] |
| DNAAF3 | Q8N9W5 | non-pleiotropic | Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763] |
| DNAH11 | Q96DT5 | non-pleiotropic | Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884] |
| DNAI1 | Q9UI46 | non-pleiotropic | Kartagener syndrome (KTGS) [MIM:244400] |
| DNAJB6 | O75190 | non-pleiotropic | Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511] |
| DNAJC5 | Q9H3Z4 | non-pleiotropic | Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350] |
| DNAL1 | Q4LDG9 | non-pleiotropic | Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017] |
| DNM1L | O00429 | non-pleiotropic | Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388] |
| DNM2 | P50570 | pleiotropic | Myopathy, centronuclear, 1 (CNM1) [MIM:160150] Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482] Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482] Lethal congenital contracture syndrome 5 (LCCS5) [MIM:615368] |
| DNMT3B | Q9UBC3 | non-pleiotropic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] |
| DOLK | Q9UPQ8 | non-pleiotropic | Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768] |
| DPAGT1 | Q9H3H5 | pleiotropic | Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093] Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750] |
| DPM1 | O60762 | non-pleiotropic | Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799] |
| DPM2 | O94777 | non-pleiotropic | Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042] |
| DPM3 | Q9P2X0 | non-pleiotropic | Congenital disorder of glycosylation 1O (CDG1O) [MIM:612937] |
| DPYS | Q14117 | non-pleiotropic | Dihydropyrimidinase deficiency (DHPD) [MIM:222748] |
| DSE | Q9UL01 | non-pleiotropic | Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539] |
| DSP | P15924 | pleiotropic | Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] |
| DTNA | Q9Y4J8 | non-pleiotropic | Left ventricular non-compaction 1 (LVNC1) [MIM:604169] |
| DUOX2 | Q9NRD8 | non-pleiotropic | Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] |
| DUSP6 | Q16828 | non-pleiotropic | Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] |
| DYNC1H1 | Q14204 | pleiotropic | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228] Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] |
| EARS2 | Q5JPH6 | non-pleiotropic | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
| EBP | Q15125 | non-pleiotropic | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] |
| ECEL1 | O95672 | non-pleiotropic | Arthrogryposis, distal, 5D (DA5D) [MIM:615065] |
| ECM1 | Q16610 | non-pleiotropic | Lipoid proteinosis (LiP) [MIM:247100] |
| EDA | Q92838 | pleiotropic | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] Tooth agenesis selective X-linked 1 (STHAGX1) [MIM:313500] |
| EDN3 | P14138 | pleiotropic | Waardenburg syndrome 4B (WS4B) [MIM:613265] Hirschsprung disease 4 (HSCR4) [MIM:613712] |
| EDNRB | P24530 | pleiotropic | Waardenburg syndrome 4A (WS4A) [MIM:277580] Hirschsprung disease 2 (HSCR2) [MIM:600155] |
| EEF2 | P13639 | non-pleiotropic | Spinocerebellar ataxia 26 (SCA26) [MIM:609306] |
| EFEMP1 | Q12805 | non-pleiotropic | Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600] |
| EFEMP2 | O95967 | non-pleiotropic | Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] |
| EFNB1 | P98172 | non-pleiotropic | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
| EFTUD2 | Q15029 | non-pleiotropic | Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] |
| EGF | P01133 | non-pleiotropic | Hypomagnesemia 4 (HOMG4) [MIM:611718] |
| EGLN1 | Q9GZT9 | non-pleiotropic | Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] |
| EHHADH | Q08426 | non-pleiotropic | Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605] |
| EHMT1 | Q9H9B1 | non-pleiotropic | Kleefstra syndrome (KLESTS) [MIM:610253] |
| EIF2AK3 | Q9NZJ5 | non-pleiotropic | Wolcott-Rallison syndrome (WRS) [MIM:226980] |
| EIF2AK4 | Q9P2K8 | non-pleiotropic | Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810] |
| EIF2B1 | Q14232 | non-pleiotropic | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
| EIF2B3 | Q9NR50 | non-pleiotropic | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
| EIF4A3 | P38919 | non-pleiotropic | Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] |
| EIF4G1 | Q04637 | non-pleiotropic | Parkinson disease 18 (PARK18) [MIM:614251] |
| ELMOD3 | Q96FG2 | non-pleiotropic | Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429] |
| EMD | P50402 | non-pleiotropic | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] |
| EMG1 | Q92979 | non-pleiotropic | Bowen-Conradi syndrome (BWCNS) [MIM:211180] |
| ENG | P17813 | non-pleiotropic | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
| ENO3 | P13929 | non-pleiotropic | Glycogen storage disease 13 (GSD13) [MIM:612932] |
| ENPP1 | P22413 | pleiotropic | Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] Cole disease (COLED) [MIM:615522] |