Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 4 of 33)
| Gene | UniProt | Protein Type | Disease |
|---|---|---|---|
| ATP8B1 | O43520 | pleiotropic | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] |
| ATPAF2 | Q8N5M1 | non-pleiotropic | Mitochondrial complex V deficiency, nuclear 1 (MC5DN1) [MIM:604273] |
| ATRX | P46100 | pleiotropic | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] |
| AUH | Q13825 | non-pleiotropic | 3-methylglutaconic aciduria 1 (MGA1) [MIM:250950] |
| AVP | P01185 | non-pleiotropic | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
| B2M | P61769 | non-pleiotropic | Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600] |
| B3GALNT2 | Q8NCR0 | non-pleiotropic | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] |
| B3GAT3 | O94766 | non-pleiotropic | Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600] |
| B3GNT1 | O43505 | non-pleiotropic | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287] |
| B4GALNT1 | Q00973 | non-pleiotropic | Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195] |
| B4GALT7 | Q9UBV7 | non-pleiotropic | Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070] |
| B9D2 | Q9BPU9 | non-pleiotropic | Meckel syndrome 10 (MKS10) [MIM:614175] |
| BAAT | Q14032 | non-pleiotropic | Familial hypercholanemia (FHCA) [MIM:607748] |
| BAG3 | O95817 | pleiotropic | Myopathy, myofibrillar, 6 (MFM6) [MIM:612954] Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] |
| BANF1 | O75531 | non-pleiotropic | Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] |
| BBS1 | Q8NFJ9 | non-pleiotropic | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
| BBS10 | Q8TAM1 | non-pleiotropic | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
| BBS12 | Q6ZW61 | non-pleiotropic | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
| BBS2 | Q9BXC9 | non-pleiotropic | Bardet-Biedl syndrome 2 (BBS2) [MIM:209900] |
| BBS4 | Q96RK4 | non-pleiotropic | Bardet-Biedl syndrome 4 (BBS4) [MIM:209900] |
| BBS5 | Q8N3I7 | non-pleiotropic | Bardet-Biedl syndrome 5 (BBS5) [MIM:209900] |
| BBS7 | Q8IWZ6 | non-pleiotropic | Bardet-Biedl syndrome 7 (BBS7) [MIM:209900] |
| BBS9 | Q3SYG4 | non-pleiotropic | Bardet-Biedl syndrome 9 (BBS9) [MIM:209900] |
| BCHE | P06276 | non-pleiotropic | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] |
| BCKDHA | P12694 | non-pleiotropic | Maple syrup urine disease 1A (MSUD1A) [MIM:248600] |
| BCKDHB | P21953 | non-pleiotropic | Maple syrup urine disease 1B (MSUD1B) [MIM:248600] |
| BCKDK | O14874 | non-pleiotropic | Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] |
| BCMO1 | Q9HAY6 | non-pleiotropic | Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) [MIM:115300] |
| BCOR | Q6W2J9 | non-pleiotropic | Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166] |
| BFSP2 | Q13515 | non-pleiotropic | Cataract 12, multiple types (CTRCT12) [MIM:611597] |
| BICC1 | Q9H694 | non-pleiotropic | Renal dysplasia, cystic (CYSRD) [MIM:601331] |
| BICD2 | Q8TD16 | non-pleiotropic | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
| BIN1 | O00499 | non-pleiotropic | Myopathy, centronuclear, 2 (CNM2) [MIM:255200] |
| BLM | P54132 | non-pleiotropic | Bloom syndrome (BLM) [MIM:210900] |
| BMP1 | P13497 | non-pleiotropic | Osteogenesis imperfecta 13 (OI13) [MIM:614856] |
| BMPER | Q8N8U9 | non-pleiotropic | Diaphanospondylodysostosis (DSD) [MIM:608022] |
| BPGM | P07738 | non-pleiotropic | Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] |
| BRIP1 | Q9BX63 | pleiotropic | Breast cancer (BC) [MIM:114480] Fanconi anemia complementation group J (FANCJ) [MIM:609054] |
| BRWD3 | Q6RI45 | non-pleiotropic | Mental retardation, X-linked 93 (MRX93) [MIM:300659] |
| BSCL2 | Q96G97 | pleiotropic | Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794] Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685] Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700] |
| BTD | P43251 | non-pleiotropic | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
| C12orf57 | Q99622 | non-pleiotropic | Temtamy syndrome (TEMTYS) [MIM:218340] |
| C15orf41 | Q9Y2V0 | non-pleiotropic | Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] |
| C19orf12 | Q9NSK7 | pleiotropic | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043] |
| C1GALT1C1 | Q96EU7 | non-pleiotropic | Tn polyagglutination syndrome (TNPS) [MIM:300622] |
| C1QB | P02746 | non-pleiotropic | Complement component C1q deficiency (C1QD) [MIM:613652] |
| C1QC | P02747 | non-pleiotropic | Complement component C1q deficiency (C1QD) [MIM:613652] |
| C1QTNF5 | Q9BXJ0 | non-pleiotropic | Late-onset retinal degeneration (LORD) [MIM:605670] |
| C2orf71 | A6NGG8 | non-pleiotropic | Retinitis pigmentosa 54 (RP54) [MIM:613428] |
| C3 | P01024 | pleiotropic | Complement component 3 deficiency (C3D) [MIM:613779] Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] |