Found 257 pleiotropic proteins (16.0 %) and 1345 non-pleiotropic proteins (84.0 %).
1602 items found (page 14 of 33)
| Gene | UniProt | Protein Type | Disease |
|---|---|---|---|
| HGSNAT | Q68CP4 | non-pleiotropic | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
| HIBCH | Q6NVY1 | non-pleiotropic | HIBCH deficiency (HIBCHD) [MIM:250620] |
| HINT1 | P49773 | non-pleiotropic | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] |
| HLCS | P50747 | non-pleiotropic | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
| HMCN1 | Q96RW7 | non-pleiotropic | Macular degeneration, age-related, 1 (ARMD1) [MIM:603075] |
| HMGCL | P35914 | non-pleiotropic | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
| HMGCS2 | P54868 | non-pleiotropic | HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] |
| HNRNPA2B1 | P22626 | non-pleiotropic | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422] |
| HOGA1 | Q86XE5 | non-pleiotropic | Hyperoxaluria primary 3 (HP3) [MIM:613616] |
| HOXA13 | P31271 | pleiotropic | Guttmacher syndrome (GUTTS) [MIM:176305] Hand-foot-genital syndrome (HFG) [MIM:140000] |
| HOXA2 | O43364 | non-pleiotropic | Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290] |
| HOXB1 | P14653 | non-pleiotropic | Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744] |
| HOXD13 | P35453 | pleiotropic | Brachydactyly D (BDD) [MIM:113200] Brachydactyly E1 (BDE1) [MIM:113300] Synpolydactyly 1 (SPD1) [MIM:186000] Syndactyly 5 (SDTY5) [MIM:186300] |
| HPGD | P15428 | pleiotropic | Cranioosteoarthropathy (COA) [MIM:259100] Isolated congenital nail clubbing (ICNC) [MIM:119900] |
| HPS3 | Q969F9 | non-pleiotropic | Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072] |
| HPS5 | Q9UPZ3 | non-pleiotropic | Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074] |
| HRAS | P01112 | pleiotropic | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] |
| HS6ST1 | O60243 | non-pleiotropic | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] |
| HSD11B2 | P80365 | non-pleiotropic | Apparent mineralocorticoid excess (AME) [MIM:218030] |
| HSD17B3 | P37058 | non-pleiotropic | Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] |
| HSD17B4 | P51659 | pleiotropic | D-bifunctional protein deficiency (DBPD) [MIM:261515] Perrault syndrome 1 (PRLTS1) [MIM:233400] |
| HSD3B2 | P26439 | non-pleiotropic | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
| HSD3B7 | Q9H2F3 | non-pleiotropic | Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] |
| HSF4 | Q9ULV5 | non-pleiotropic | Cataract 5, multiple types (CTRCT5) [MIM:116800] |
| HSPB1 | P04792 | pleiotropic | Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] |
| HSPB3 | Q12988 | non-pleiotropic | Neuronopathy, distal hereditary motor, 2C (HMN2C) [MIM:613376] |
| HSPB8 | Q9UJY1 | pleiotropic | Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673] |
| HSPD1 | P10809 | pleiotropic | Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280] Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233] |
| HTRA2 | O43464 | non-pleiotropic | Parkinson disease 13 (PARK13) [MIM:610297] |
| HYAL1 | Q12794 | non-pleiotropic | Mucopolysaccharidosis 9 (MPS9) [MIM:601492] |
| HYLS1 | Q96M11 | non-pleiotropic | Hydrolethalus syndrome 1 (HLS1) [MIM:236680] |
| IBA57 | Q5T440 | non-pleiotropic | Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330] |
| ICK | Q9UPZ9 | non-pleiotropic | Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] |
| IDH2 | P48735 | non-pleiotropic | D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] |
| IDH3B | O43837 | non-pleiotropic | Retinitis pigmentosa 46 (RP46) [MIM:612572] |
| IDS | P22304 | non-pleiotropic | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
| IER3IP1 | Q9Y5U9 | non-pleiotropic | Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231] |
| IFNGR2 | P38484 | non-pleiotropic | Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] |
| IFT122 | Q9HBG6 | non-pleiotropic | Cranioectodermal dysplasia 1 (CED1) [MIM:218330] |
| IFT140 | Q96RY7 | non-pleiotropic | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |
| IFT172 | Q9UG01 | non-pleiotropic | Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] |
| IFT80 | Q9P2H3 | non-pleiotropic | Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263] |
| IGF1R | P08069 | non-pleiotropic | Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] |
| IGHMBP2 | P38935 | non-pleiotropic | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
| IGKC | P01834 | non-pleiotropic | Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102] |
| IGLL1 | P15814 | non-pleiotropic | Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500] |
| IGSF1 | Q8N6C5 | non-pleiotropic | Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] |
| IHH | Q14623 | pleiotropic | Acrocapitofemoral dysplasia (ACFD) [MIM:607778] Brachydactyly A1 (BDA1) [MIM:112500] |
| IKBKAP | O95163 | non-pleiotropic | Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] |
| IKBKG | Q9Y6K9 | pleiotropic | Incontinentia pigmenti (IP) [MIM:308300] Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291] Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584] Recurrent isolated invasive pneumococcal disease 2 (IPD2) [MIM:300640] X-linked familial atypical micobacteriosis 1 (AMCBX1) [MIM:300636] |