Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 7 of 33)
Gene | UniProt | Protein Type | Disease |
---|---|---|---|
COL10A1 | Q03692 | non-pleiotropic | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
COL11A1 | P12107 | pleiotropic | Stickler syndrome 2 (STL2) [MIM:604841] Fibrochondrogenesis 1 (FBCG1) [MIM:228520] |
COL11A2 | P13942 | pleiotropic | Otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150] Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868] Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610] Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706] |
COL17A1 | Q9UMD9 | non-pleiotropic | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] |
COL1A1 | P02452 | pleiotropic | Osteogenesis imperfecta 1 (OI1) [MIM:166200] Osteogenesis imperfecta 2 (OI2) [MIM:166210] Osteogenesis imperfecta 3 (OI3) [MIM:259420] Osteogenesis imperfecta 4 (OI4) [MIM:166220] Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000] Caffey disease (CAFFD) [MIM:114000] |
COL2A1 | P02458 | pleiotropic | Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508] Czech dysplasia (CZECHD) [MIM:609162] Kniest dysplasia (KD) [MIM:156550] Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] Achondrogenesis 2 (ACG2) [MIM:200610] Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864] Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450] Stickler syndrome 1 (STL1) [MIM:108300] Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] Primary avascular necrosis of femoral head (ANFH) [MIM:608805] Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] |
COL3A1 | P02461 | pleiotropic | Aortic aneurysm, familial abdominal (AAA) [MIM:100070] Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] Ehlers-Danlos syndrome 3 (EDS3) [MIM:130020] |
COL4A1 | P02462 | pleiotropic | Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] Porencephaly 1 (POREN1) [MIM:175780] Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] |
COL4A5 | P29400 | non-pleiotropic | Alport syndrome, X-linked (APSX) [MIM:301050] |
COL4A6 | Q14031 | non-pleiotropic | Deafness, X-linked, 6 (DFNX6) [MIM:300914] |
COL5A2 | P05997 | non-pleiotropic | Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010] |
COLEC11 | Q9BWP8 | non-pleiotropic | 3MC syndrome 2 (3MC2) [MIM:265050] |
COLQ | Q9Y215 | non-pleiotropic | Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034] |
COQ2 | Q96H96 | pleiotropic | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] Multiple system atrophy 1 (MSA1) [MIM:146500] |
COQ6 | Q9Y2Z9 | non-pleiotropic | Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650] |
CORIN | Q9Y5Q5 | non-pleiotropic | Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595] |
CORO1A | P31146 | non-pleiotropic | Immunodeficiency 8 (IMD8) [MIM:615401] |
COX10 | Q12887 | non-pleiotropic | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
COX15 | Q7KZN9 | pleiotropic | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119] Leigh syndrome (LS) [MIM:256000] |
COX4I2 | Q96KJ9 | non-pleiotropic | Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714] |
COX6B1 | P14854 | non-pleiotropic | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
CPN1 | P15169 | non-pleiotropic | Carboxypeptidase N deficiency (CPND) [MIM:212070] |
CPT1A | P50416 | non-pleiotropic | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
CRADD | P78560 | non-pleiotropic | Mental retardation, autosomal recessive 34 (MRT34) [MIM:614499] |
CREBBP | Q92793 | non-pleiotropic | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
CRLF1 | O75462 | non-pleiotropic | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
CRTAP | O75718 | non-pleiotropic | Osteogenesis imperfecta 7 (OI7) [MIM:610682] |
CRYAA | P02489 | non-pleiotropic | Cataract 9, multiple types (CTRCT9) [MIM:604219] |
CRYAB | P02511 | pleiotropic | Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] |
CRYBA4 | P53673 | non-pleiotropic | Cataract 23 (CTRCT23) [MIM:610425] |
CRYBB1 | P53674 | non-pleiotropic | Cataract 17, multiple types (CTRCT17) [MIM:611544] |
CRYBB3 | P26998 | non-pleiotropic | Cataract 22 (CTRCT22) [MIM:609741] |
CRYGC | P07315 | non-pleiotropic | Cataract 2, multiple types (CTRCT2) [MIM:604307] |
CRYGD | P07320 | non-pleiotropic | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
CRYGS | P22914 | non-pleiotropic | Cataract 20, multiple types (CTRCT20) [MIM:116100] |
CSF1R | P07333 | non-pleiotropic | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
CSF2RA | P15509 | non-pleiotropic | Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770] |
CSF3R | Q99062 | non-pleiotropic | Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830] |
CSNK1D | P48730 | non-pleiotropic | Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] |
CSTB | P04080 | non-pleiotropic | Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800] |
CTC1 | Q2NKJ3 | non-pleiotropic | Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] |
CTCF | P49711 | non-pleiotropic | Mental retardation, autosomal dominant 21 (MRD21) [MIM:615502] |
CTH | P32929 | non-pleiotropic | Cystathioninuria (CSTNU) [MIM:219500] |
CTNNA3 | Q9UI47 | non-pleiotropic | Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616] |
CTRC | Q99895 | non-pleiotropic | Pancreatitis, hereditary (PCTT) [MIM:167800] |
CTSA | P10619 | non-pleiotropic | Galactosialidosis (GSL) [MIM:256540] |
CTSD | P07339 | non-pleiotropic | Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127] |
CTSF | Q9UBX1 | non-pleiotropic | Ceroid lipofuscinosis, neuronal, 13 (CLN13) [MIM:615362] |
CTSK | P43235 | non-pleiotropic | Pycnodysostosis (PKND) [MIM:265800] |
CUBN | O60494 | non-pleiotropic | Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100] |