Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 5 of 33)
Gene | UniProt | Protein Type | Disease |
---|---|---|---|
C5orf42 | Q9H799 | non-pleiotropic | Joubert syndrome 17 (JBTS17) [MIM:614615] |
C7 | P10643 | non-pleiotropic | Complement component 7 deficiency (C7D) [MIM:610102] |
CA12 | O43570 | non-pleiotropic | Hyperchlorhidrosis, isolated (HCHLH) [MIM:143860] |
CA2 | P00918 | non-pleiotropic | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] |
CA4 | P22748 | non-pleiotropic | Retinitis pigmentosa 17 (RP17) [MIM:600852] |
CA8 | P35219 | non-pleiotropic | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227] |
CABP4 | P57796 | non-pleiotropic | Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427] |
CACNA1A | O00555 | pleiotropic | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] Episodic ataxia 2 (EA2) [MIM:108500] Spinocerebellar ataxia 6 (SCA6) [MIM:183086] |
CACNA1C | Q13936 | pleiotropic | Timothy syndrome (TS) [MIM:601005] Brugada syndrome 3 (BRGDA3) [MIM:611875] |
CACNA1D | Q01668 | non-pleiotropic | Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474] |
CACNA1S | Q13698 | pleiotropic | Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] Malignant hyperthermia 5 (MHS5) [MIM:601887] |
CACNB2 | Q08289 | non-pleiotropic | Brugada syndrome 4 (BRGDA4) [MIM:611876] |
CACNG2 | Q9Y698 | non-pleiotropic | Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256] |
CALM1 | P62158 | non-pleiotropic | Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] |
CALR3 | Q96L12 | non-pleiotropic | Cardiomyopathy, familial hypertrophic 19 (CMH19) [MIM:613875] |
CANT1 | Q8WVQ1 | non-pleiotropic | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
CAPN3 | P20807 | non-pleiotropic | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
CAPN5 | O15484 | non-pleiotropic | Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235] |
CARD11 | Q9BXL7 | non-pleiotropic | Persistent polyclonal B-cell lymphocytosis (PPBL) [MIM:606445] |
CARD9 | Q9H257 | non-pleiotropic | Candidiasis, familial, 2 (CANDF2) [MIM:212050] |
CASC5 | Q8NG31 | non-pleiotropic | Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321] |
CASP10 | Q92851 | pleiotropic | Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909] Gastric cancer (GASC) [MIM:613659] Familial non-Hodgkin lymphoma (NHL) [MIM:605027] |
CASQ2 | O14958 | non-pleiotropic | Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] |
CASR | P41180 | pleiotropic | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] |
CAV3 | P56539 | pleiotropic | Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] Rippling muscle disease (RMD) [MIM:606072] HyperCKmia (HYPCK) [MIM:123320] Myopathy, distal, Tateyama type (MPDT) [MIM:614321] Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600] Sudden infant death syndrome (SIDS) [MIM:272120] Long QT syndrome 9 (LQT9) [MIM:611818] |
CBL | P22681 | non-pleiotropic | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] |
CBX2 | Q14781 | non-pleiotropic | 46,XY sex reversal 5 (SRXY5) [MIM:613080] |
CC2D2A | Q9P2K1 | pleiotropic | Joubert syndrome 9 (JBTS9) [MIM:612285] COACH syndrome (COACHS) [MIM:216360] Meckel syndrome 6 (MKS6) [MIM:612284] |
CCBE1 | Q6UXH8 | non-pleiotropic | Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] |
CCDC103 | Q8IW40 | non-pleiotropic | Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679] |
CCM2 | Q9BSQ5 | non-pleiotropic | Cerebral cavernous malformations 2 (CCM2) [MIM:603284] |
CCT5 | P48643 | non-pleiotropic | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840] |
CD207 | Q9UJ71 | non-pleiotropic | Birbeck granule deficiency (BIRGD) [MIM:613393] |
CD27 | P26842 | non-pleiotropic | Lymphoproliferative syndrome 2 (LPFS2) [MIM:615122] |
CD40 | P25942 | non-pleiotropic | Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843] |
CD40LG | P29965 | non-pleiotropic | X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230] |
CD46 | P15529 | non-pleiotropic | Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] |
CD59 | P13987 | non-pleiotropic | Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59) [MIM:612300] |
CD79B | P40259 | non-pleiotropic | Agammaglobulinemia 6, autosomal recessive (AGM6) [MIM:612692] |
CD8A | P01732 | non-pleiotropic | CD8 deficiency, familial (CD8 deficiency) [MIM:608957] |
CD96 | P40200 | non-pleiotropic | C syndrome (CSYN) [MIM:211750] |
CDAN1 | Q8IWY9 | non-pleiotropic | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
CDC6 | Q99741 | non-pleiotropic | Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805] |
CDH23 | Q9H251 | pleiotropic | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] Usher syndrome 1D (USH1D) [MIM:601067] Usher syndrome 1D/F (USH1DF) [MIM:601067] |
CDH3 | P22223 | pleiotropic | Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553] Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM) [MIM:225280] |
CDK4 | P11802 | non-pleiotropic | Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] |
CDKN2A | P42771 | pleiotropic | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719] Li-Fraumeni syndrome (LFS) [MIM:151623] |
CDKN3 | Q16667 | non-pleiotropic | Hepatocellular carcinoma (HCC) [MIM:114550] |
CDON | Q4KMG0 | non-pleiotropic | Holoprosencephaly 11 (HPE11) [MIM:614226] |
CDT1 | Q9H211 | non-pleiotropic | Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |