|
| Gene | Location | OMIM | Description | Disease |
|
| ZNF141 | 4p16.3 | 194648 | Zinc finger protein 141 | Polydactyly, postaxial, type A6 |
| PIGG | 4p16.3 | 616918 | Phosphatidylinositol glycan anchor biosynthesis class G | Mental retardation, autosomal recessive 53 |
| PDE6B | 4p16.3 | 180072 | Phosphodiesterase 6B | Night blindness, congenital stationary, autosomal dominant 2, retinitis pigmentosa-40 |
| CPLX1 | 4p16.3 | 605032 | Complexin 1 | Epileptic encephalopathy, early infantile, 63 |
| SLC26A1 | 4p16.3 | 610130 | Solute carrier family 26 member 1 | Nephrolithiasis, calcium oxalate |
| IDUA | 4p16.3 | 252800 | Iduronidase alpha-L- | Mucopolysaccharidosis Ih, mucopolysaccharidosis Ih/s, mucopolysaccharidosis Is |
| RNF212 | 4p16.3 | 612041 | Ring finger protein 212 | Recombination rate QTL 1 |
| CTBP1 | 4p16.3 | 602618 | C-terminal binding protein 1 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome |
| UVSSA | 4p16.3 | 614632 | UV stimulated scaffold protein A | UV-sensitive syndrome 3 |
| FGFR3 | 4p16.3 | 134934 | Fibroblast growth factor receptor 3 | Achondroplasia, bladder cancer, somatic, colorectal cancer (CRC), hypochondroplasia, LADD syndrome, nevus, epidermal, thanatophoric dysplasia, type I, thanatophoric dysplasia, type II, testicular germ cell tumor (TGCT), Muenke syndrome, cervical cancer, somatic, CATSHL syndrome, Crouzon syndrome with acanthosis nigricans, SADDAN |
| NAT8L | 4p16.3 | 610647 | N-Acetyltransferase 8 like | N-Acetylaspartate deficiency |
| HTT | 4p16.3 | 613004 | Huntingtin | Huntington disease, lopes-Maciel-Rodan syndrome |
| DOK7 | 4p16.3 | 610285 | Docking protein 7 | Myasthenic syndrome, congenital, 10, fetal akinesia deformation sequence 3 |
| SH3BP2 | 4p16.3 | 602104 | SH3 domain binding protein 2 | Cherubism |
| ADD1 | 4p16.3 | 102680 | Adducin 1 | Hypertension, essential |
| LRPAP1 | 4p16.3 | 104225 | LDL receptor-related protein-associated protein 1 | Diseases: myopia 23, autosomal recessive |
| ADRA2C | 4p16.3 | 104250 | Adrenoceptor alpha 2C | Congestive heart failure and beta-blocker response |
| MSX1 | 4p16.2 | 142983 | msh homeobox 1 | Tooth agenesis, selective, 1, with or without orofacial cleft, ectodermal dysplasia 3, Witkop type, orofacial cleft 5 |
| EVC2 | 4p16.2 | 607261 | EvC ciliary complex subunit 2 | Diseases: Weyers acrofacial dysostosis, Ellis-van Creveld syndrome |
| EVC | 4p16.2 | 604831 | EvC ciliary complex subunit 1 | Diseases: Weyers acrofacial dysostosis, Ellis–van Creveld syndrome |
| WFS1 | 4p16.1 | 606201 | Wolframin ER transmembrane glycoprotein | Cataract 41, diabetes mellitus, noninsulin-dependent (NIDDM), Wolfram syndrome 1, deafness, autosomal dominant 6/14/38, Wolfram-like syndrome, autosomal dominant |
| HMX1 | 4p16.1 | 142992 | H6 family homeobox 1 | Oculoauricular syndrome |
| SLC2A9 | 4p16.1 | 606142 | Solute carrier family 2 member 9 | Hypouricemia, renal, 2 (RHUC2) |
| DRD5 | 4p16.1 | 126453 | Dopamine receptor D5 | Attention deficit-hyperactivity disorder (ADHD), blepharospasm, primary benign |
| RAB28 | 4p15.33 | 612994 | RAB28, member RAS oncogene family | Cone-rod dystrophy 18 |
| NKX3-2 | 4p15.33 | 602183 | NK3 homeobox 2 | Spondylomegaepiphyseal-metaphyseal dysplasia |
| CC2D2A | 4p15.32 | 612013 | Coiled-coil and C2 domain containing 2A | COACH syndrome, Meckel syndrome 6, Joubert syndrome 9 |
| PROM1 | 4p15.32 | 604365 | Prominin 1 | Stargardt disease 4, macular dystrophy, retinal, 2, retinitis pigmentosa 41, cone-rod dystrophy 12 |
| TAPT1 | 4p15.32 | 612758 | Transmembrane anterior posterior transformation 1 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type |
| QDPR | 4p15.32 | 612676 | Quinoid dihydropteridine reductase | Diseases: hyperphenylalaninemia, BH4-deficient, C |
| STS | Xp22.31 | 300747 | Steroid sulfatase | Ichthyosis, X-linked |
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