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Genes Associated with Diseases

10,706 "disease genes" are currently present in the GeneCards database

Showing 335 "disease genes" starting with 'L'

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The genes listed here cause, predispose or protect from diseases

GeneCards Gene Gene Name Locus MalaCards Disorders (sorted by relevance)
L1CAM L1 cell adhesion molecule Xq28 Hydrocephalus With Congenital Idiopathic Intestinal Pseudoobstruction,  Spastic Paraplegia 1,  Hydrocephalus With Hirschsprung Disease,  L1 Syndrome,  Aphasia,  Hydrocephalus Due To Aqueductal Stenosis,  Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius,  Partial Agenesis Of Corpus Callosum,  X-Linked Complicated Spastic Paraplegia Type 1,  Hydrocephalus,  Agenesis Of The Corpus Callosum,  Mecp2 Duplication Syndrome,  Spastic Diplegia,  Hirschsprungs Disease,  Porencephaly,  Diabetes Insipidus,  Acrocallosal Syndrome Nephrogenic Diabetes Insipidus Show all 18
L1RE1 LINE1 retrotransposable element 1 22q11.1-q11.2 Tetralogy Of Fallot
L2HGDH L-2-hydroxyglutarate dehydrogenase 14q21.3 L-2-Hydroxyglutaric Aciduria,  2-Hydroxyglutaric Aciduria D-2-Hydroxyglutaric Aciduria
L3MBTL3 l(3)mbt-like 3 (Drosophila) 6q23.1 Intestinal Volvulus Gastric Dilatation
LACRT lacritin 12q13.2 Blepharitis
LACTB lactamase, beta 15q22.2 Bacterial Conjunctivitis,  Obesity,  Subvalvular Aortic Stenosis,  Chronic Maxillary Sinusitis,  Nocardiosis,  Mycobacterium Fortuitum,  Splenic Abscess,  Epiglottitis,  Mediastinitis,  Aspiration Pneumonia,  Pharyngitis,  Gonorrhea,  Pneumonia,  Cystic Fibrosis,  Endophthalmitis,  Sinusitis Cellulitis Show all 17
LAD1 ladinin 1 1q32.1 Linear Iga Disease,  Epidermolysis Bullosa Acquisita,  Bullous Pemphigoid Junctional Epidermolysis Bullosa Show all 4
LAG5 Leukocyte antigen group 5 Neutropenia, Alloimmune Neonatal
LAGE3 L antigen family, member 3 Xq28 Shipyard Eye
LAIR1 leukocyte-associated immunoglobulin-like receptor 1 19q13.42 Chronic Active Epstein-Barr Virus Infection Cytomegalovirus Infection
LALBA lactalbumin, alpha- 12q13.11 Skin Papilloma,  Atopy,  Mammary Pagets Disease Celiac Disease Show all 4
LALL Lymphomatous acute lymphoblastic leukemia 9p22-p21 Acute Lymphoblastic Leukemia Lymphoblastic Leukemia
LAMA1 laminin, alpha 1 18p11.23 Poretti-Boltshauser Syndrome
LAMA2 laminin, alpha 2 6q22.33 Lama2-Related Muscular Dystrophy,  Congenital Muscular Dystrophy Type 1A,  Muscular Dystrophy, Congenital, Due To Partial Lama2 Deficiency,  Cartilage-Hair Hypoplasia,  Muscular Dystrophy,  Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders,  Congenital Muscular Dystrophy,  Fukuyama Congenital Muscular Dystrophy,  Brain Disease,  Walker-Warburg Syndrome,  Anauxetic Dysplasia Pontocerebellar Hypoplasia Show all 12
LAMA3 laminin, alpha 3 18q11.2 Laryngoonychocutaneous Syndrome,  Lama3-Related Junctional Epidermolysis Bullosa,  Cardiomyopathy, Dilated, 1Jj,  Junctional Epidermolysis Bullosa,  Maternal Uniparental Disomy Of Chromosome 1,  Epidermolysis Bullosa Acquisita,  Junctional Epidermolysis Bullosa, Herlitz Type,  Epidermolysis Bullosa Junctional Epidermolysis Bullosa, Non-Herlitz Type Show all 9
LAMA4 laminin, alpha 4 6q21 Cardiomyopathy, Dilated, 1Ii Cardiomyopathy, Dilated, 1Jj
LAMA5 laminin, alpha 5 20q13.33 Pontocerebellar Hypoplasia
LAMB1 laminin, beta 1 7q31.1 Lissencephaly 5,  Supravalvular Aortic Stenosis,  Secretory Meningioma,  Diffuse Mesangial Sclerosis,  Pierson Syndrome,  Bethlem Myopathy Junctional Epidermolysis Bullosa Show all 7
LAMB2 laminin, beta 2 (laminin S) 3p21.31 Pierson Syndrome,  Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities,  Diffuse Mesangial Sclerosis,  Endplate Acetylcholinesterase Deficiency,  Nephrotic Syndrome,  Nephrosis,  Walker-Warburg Syndrome Brain Disease Show all 8
LAMB3 laminin, beta 3 1q32.2 Maternal Uniparental Disomy Of Chromosome 1,  Lamb3-Related Junctional Epidermolysis Bullosa,  Junctional Epidermolysis Bullosa,  Junctional Epidermolysis Bullosa, Herlitz Type,  Mucous Membrane Pemphigoid,  Epidermolysis Bullosa,  Junctional Epidermolysis Bullosa, Non-Herlitz Type Amelogenesis Imperfecta, Type Ib Show all 8
LAMC1 laminin, gamma 1 (formerly LAMB2) 1q25.3 Junctional Epidermolysis Bullosa Inversa,  Junctional Epidermolysis Bullosa,  Diffuse Mesangial Sclerosis Mayer-Rokitansky-Kuster-Hauser Syndrome Show all 4
LAMC2 laminin, gamma 2 1q25.3 Junctional Epidermolysis Bullosa Inversa,  Cryptogenic Organizing Pneumonia,  Junctional Epidermolysis Bullosa,  Skin Disease,  Lamc2-Related Junctional Epidermolysis Bullosa,  Junctional Epidermolysis Bullosa, Herlitz Type,  Gallbladder Adenocarcinoma,  Epidermolysis Bullosa Acquisita,  Cervical Adenocarcinoma,  Ovarian Mucinous Neoplasm,  Epidermolysis Bullosa,  Junctional Epidermolysis Bullosa, Non-Herlitz Type,  Mucous Membrane Pemphigoid Lichen Planus Show all 14
LAMC3 laminin, gamma 3 9q34.12 Cortical Malformations, Occipital Pachygyria
LAMP1 lysosomal-associated membrane protein 1 13q34 Salla Disease Chediak-Higashi Syndrome
LAMP2 lysosomal-associated membrane protein 2 Xq24 Danon Disease,  Vacuolar Myopathy,  Salla Disease Dilated Cardiomyopathy Show all 4
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 1q22 Immunodeficiency Due To Defect In Mapbp-Interacting Protein
LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 1p13.3 Hepatitis B,  Hepatitis,  Non-Small Cell Lung Carcinoma Liver Cancer Show all 4
LAMTOR5P1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 pseudogene 1 1p31.3 Hepatitis B Hepatitis
LAP Laryngeal adductor paralysis 6p21.3-p21.2 Laryngeal Adductor Paralysis,  Acute Myeloid Leukemia Acute T Cell Leukemia
LAP3 leucine aminopeptidase 3 4p15.32 Endometrial Carcinoma,  Trichomoniasis Vulvovaginal Candidiasis
LAPTM5 lysosomal protein transmembrane 5 1p35.2 Villonodular Synovitis Pigmented Villonodular Synovitis
LARGE like-glycosyltransferase 22q12.3 Muscular Dystrophy-Dystroglycanopathy , Type A, 6,  Large-Related Muscle Diseases,  Muscular Dystrophy-Dystroglycanopathy , Type B, 6,  Muscular Dystrophy-Dystroglycanopathy,  Fukuyama Congenital Muscular Dystrophy,  Congenital Muscular Dystrophy,  Brain Disease,  Walker-Warburg Syndrome,  Muscular Dystrophy-Dystroglycanopathy , Type A, 12,  Muscular Dystrophy,  Muscular Dystrophy-Dystroglycanopathy , Type A, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Show all 12
LARP7 La ribonucleoprotein domain family, member 7 4q25 Alazami Syndrome
LARS leucyl-tRNA synthetase 5q32 Conjugate Gaze Palsy,  Infantile Liver Failure Syndrome 1 Patellofemoral Pain Syndrome
LARS2 leucyl-tRNA synthetase 2, mitochondrial 3p21.31 Perrault Syndrome 4,  Nasopharyngitis Perrault Syndrome
LAS1L LAS1-like (S. cerevisiae) Xq12 Spinal Muscular Atrophy With Respiratory Distress Type 2
LASP1 LIM and SH3 protein 1 17q12 Colorectal Cancer,  B-Cell Lymphomas Breast Cancer
LAT2 linker for activation of T cells family, member 2 7q11.23 Williams-Beuren Syndrome
LATS1 large tumor suppressor kinase 1 6q25.1 Childhood Kidney Neoplasm,  Tetraploidy Mesoblastic Nephroma
LATS2 large tumor suppressor kinase 2 13q12.11 Intracranial Abscess
LAX1 lymphocyte transmembrane adaptor 1 1q32.1 Blepharochalasis,  Chondromalacia,  Lagophthalmos,  Entropion,  Ectropion Coffin-Siris Syndrome Show all 6
LBP lipopolysaccharide binding protein 20q11.23 Bacteremia,  Spontaneous Pneumothorax,  Infective Endocarditis,  Endocarditis,  Primary Spontaneous Pneumothorax,  Sepsis,  Pneumothorax Peritonitis Show all 8
LBR lamin B receptor 1q42.12 Paranoid Personality Disorder,  Viral Hemorrhagic Fever,  Pelger-Huet Anomaly,  Reynolds Syndrome,  Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia,  T-Cell Large Granular Lymphocyte Leukemia,  Schizotypal Personality Disorder,  Large Granular Lymphocyte Leukemia,  Progressive Multifocal Leukoencephalopathy,  Chronic Fatigue Syndrome,  Newcastle Disease,  Toxic Shock Syndrome Behcets Disease Show all 13
LBX1 ladybird homeobox 1 10q24.31 Split Foot,  Burns,  Split Hand,  Osteosarcoma Prostate Cancer Show all 5
LBX2 ladybird homeobox 2 2p13.1 Alstrom Syndrome
LCA10 lung carcinoma-associated protein 10 Xq28 Meckel Syndrome 4,  Leber Congenital Amaurosis 10,  Joubert Syndrome With Oculorenal Anomalies,  Senior-Loken Syndrome 6,  Bardet-Biedl Syndrome 14,  Ulcerative Colitis,  Bardet-Biedl Syndrome Senior-Loken Syndrome Show all 8
LCA5 Leber congenital amaurosis 5 6q14.1 Leber Congenital Amaurosis 5,  Severe Early-Childhood-Onset Retinal Dystrophy,  Lca5-Related Leber Congenital Amaurosis,  Leber Congenital Amaurosis Leber Congenital Amaurosis 10 Show all 5
LCA5L Leber congenital amaurosis 5-like 21q22.2 Leber Congenital Amaurosis 5
LCA9 Leber congenital amaurosis 9 1p36 Leber Congenital Amaurosis 9
LCAT lecithin-cholesterol acyltransferase 16q22.1 Complete Lcat Deficiency,  Fish-Eye Disease,  Norum Disease,  Eye Disease,  Lipoprotein Glomerulopathy,  Kwashiorkor,  Hypoalphalipoproteinemia,  Alagille Syndrome,  Sea-Blue Histiocytosis,  Defective Apolipoprotein B-100,  Hyperalphalipoproteinemia,  Familial Hyperlipidemia,  Mucopolysaccharidosis I,  Hypercholesterolemia,  Benign Recurrent Intrahepatic Cholestasis,  Tangier Disease,  Corneal Disease,  Amyloidosis, Secondary,  Splenomegaly,  Familial Hdl Deficiency,  Hypobetalipoproteinemia Atherosclerosis Show all 22
LCE1C late cornified envelope 1C 1q21.3 Psoriatic Arthritis
LCE2B late cornified envelope 2B 1q21.3 Irritant Dermatitis
LCE3A late cornified envelope 3A 1q21.3 Irritant Dermatitis Atopic Dermatitis
LCE3B late cornified envelope 3B 1q21.3 Allergic Contact Dermatitis,  Contact Dermatitis Psoriatic Arthritis
LCE3C late cornified envelope 3C 1q21.3 Allergic Contact Dermatitis,  Contact Dermatitis Psoriatic Arthritis
LCE5A late cornified envelope 5A 1q21.3 Irritant Dermatitis
LCK lymphocyte-specific protein tyrosine kinase 1p35.1 Immunodeficiency 22
LCLAT1 lysocardiolipin acyltransferase 1 2p23.1 Barth Syndrome
LCMT2 leucine carboxyl methyltransferase 2 15q15.3 Tracheitis Multiple Chemical Sensitivity
LCN1 lipocalin 1 9q34.3 Pre-Eclampsia,  Stromal Keratitis,  Pulmonary Large Cell Neuroendocrine Carcinoma,  Morbid Obesity,  Viral Pneumonia Hiv/aids Show all 6
LCN2 lipocalin 2 9q34.11 Insulin Resistance,  Pancreatic Cancer Renovascular Hypertension
LCN9 lipocalin 9 9q34.3 Tick Infestation
LCO liver cancer oncogene 2q14-q21 Liver Cancer
LCORL ligand dependent nuclear receptor corepressor-like 4p15.31 Croup
LCP1 lymphocyte cytosolic protein 1 (L-plastin) 13q14.13 Chromosome 13Q Deletion
LCR-OPSIN opsin locus control region Blue Cone Monochromacy
LCRB locus control region, beta 11p15.5 Thalassemia, Hispanic Gamma-Delta-Beta
LCS1 lymphedema-cholestasis syndrome 1 15q Aagenaes Syndrome
LCT lactase 2q21.3 Congenital Lactase Deficiency,  Lactose Intolerance,  Intestinal Disease Giardiasis Show all 4
LDB1 LIM domain binding 1 10q24.32 Nail-Patella Syndrome
LDB3 LIM domain binding 3 10q23.2 Cardiomyopathy, Dilated 1C,  Myopathy, Myofibrillar, 4,  Coronary Aneurysm,  Ldb3-Related Dilated Cardiomyopathy,  Dilated Cardiomyopathy,  Myofibrillar Myopathy,  Muscular Dystrophy-Dystroglycanopathy , Type B, 5,  Cardiomyopathy, Dilated, 1Ii,  Barth Syndrome,  Left Ventricular Noncompaction,  Cardiomyopathy, Dilated, 1E Left Ventricular Noncompaction 3, With Or Without Dilated Cardiomyopathy Show all 12
LDHA lactate dehydrogenase A 11p15.1 Lactate Dehydrogenase A Deficiency,  Hereditary Leiomyomatosis And Renal Cell Cancer Fanconi Bickel Syndrome
LDHB lactate dehydrogenase B 12p12.1 Lactate Dehydrogenase B Deficiency
LDLR low density lipoprotein receptor 19p13.2 Ldl Cholesterol Level Qtl2,  Familial Hypercholesterolemia,  Hyperlipoproteinemia Type 2,  Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant,  Hypercholesterolemia,  Defective Apolipoprotein B-100,  Pinguecula,  Coronary Artery Disease In Familial Hypercholesterolemia, Protection Against,  Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of,  Hypoalphalipoproteinemia,  Lipoprotein Glomerulopathy,  Primary Angle-Closure Glaucoma,  Hypercholesterolemia, Familial, Modifier Of,  Hyperlipoproteinemia Type Iii,  Hypobetalipoproteinemia,  Common Cold,  Smith-Lemli-Opitz Syndrome,  Cholesteryl Ester Storage Disease,  Hyperalphalipoproteinemia,  Aortic Disease,  Familial Hyperlipidemia,  Chronic Progressive External Ophthalmoplegia,  Hypertriglyceridemia Atherosclerosis Show all 24
LDLRAP1 low density lipoprotein receptor adaptor protein 1 1p36.11 Hypercholesterolemia, Familial, Autosomal Recessive,  Familial Hypercholesterolemia Hypercholesterolemia
LDOC1 leucine zipper, down-regulated in cancer 1 Xq27.1 Breast Cancer
LEAP2 liver expressed antimicrobial peptide 2 5q31.1 Coccidiosis
LECD Corneal dystrophy, Lisch epithelial Xp22.3 Corneal Dystrophy, Lisch Epithelial
LECT1 leukocyte cell derived chemotaxin 1 13q14.3 Multiple Myeloma,  Myeloma,  Aortic Valve Disease Endocarditis Show all 4
LECT2 leukocyte cell-derived chemotaxin 2 5q31.1 Rheumatoid Arthritis
LEF1 lymphoid enhancer-binding factor 1 4q25 Sebaceous Tumors, Somatic,  Prostate Cancer,  Odontoma,  Acute Myeloid Leukemia,  Skin Pilomatrix Carcinoma,  Colorectal Cancer Pilomatrixoma Show all 7
LEFTY1 left-right determination factor 1 1q42.12 Ivemark Syndrome
LEFTY2 left-right determination factor 2 1q42.12 Left-Right Axis Malformations,  Ivemark Syndrome,  Lefty2-Related Visceral Heterotaxy,  Complete Atrioventricular Canal,  Infertility,  Proteus Syndrome,  Pregnancy Loss Visceral Heterotaxy Show all 8
LELP1 late cornified envelope-like proline-rich 1 1q21.3 Esophageal Squamous Cell Carcinoma Epidermolytic Hyperkeratosis
LEMD3 LEM domain containing 3 12q14.3 Familial Cutaneous Collagenoma,  Melorheostosis With Osteopoikilosis,  Melorheostosis,  Osteopoikilosis,  Buschke Ollendorff Syndrome 12Q14 Microdeletion Syndrome Show all 6
LEP leptin 7q32.1 Congenital Leptin Deficiency,  Diencephalic Syndrome,  Leptin Deficiency,  Sleep Apnea,  Obstructive Sleep Apnea,  Sick Building Syndrome,  Obesity,  Anorexia Nervosa,  Fetal Macrosomia,  Overnutrition,  Type 2 Diabetes Mellitus,  Pre-Eclampsia,  Alstrom Syndrome,  Metabolic Syndrome X,  Morbid Obesity,  Skin Tag,  Lipoblastoma,  Insulin Resistance,  Lipoatrophic Diabetes,  Acquired Generalized Lipodystrophy,  Berardinelli-Seip Congenital Lipodystrophy,  Choriocarcinoma,  Diabetes Mellitus,  Eclampsia,  End Stage Renal Failure,  Premature Ejaculation,  Avascular Necrosis Of The Femoral Head,  Hypogonadism,  Central Sleep Apnea,  Rabson-Mendenhall Syndrome,  Idiopathic Recurrent Pericarditis,  Adrenal Carcinoma,  Myelomeningocele,  Bulimia Nervosa,  Polycystic Ovary Syndrome,  Familial Partial Lipodystrophy,  Lipodystrophy,  Congenital Generalized Lipodystrophy,  Severe Pre-Eclampsia,  Nonalcoholic Steatohepatitis Narcolepsy Show all 41
LEPQTL1 Leptin, serum levels of 2p21 Type 2 Diabetes Mellitus,  Marasmus,  Leptin Deficiency,  Metabolic Syndrome X,  Pernicious Anemia,  Congenital Generalized Lipodystrophy,  Premature Ejaculation,  End Stage Renal Failure Laron Syndrome Show all 9
LEPR leptin receptor 1p31.3 Leptin Receptor Deficiency,  Obesity,  Lipoblastoma,  Leptin Deficiency,  Clostridium Difficile Colitis,  Pre-Eclampsia Insulin Resistance Show all 7
LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 1p34.2 Lepre1-Related Osteogenesis Imperfecta,  Osteogenesis Imperfecta Type 8,  Osteogenesis Imperfecta, Type Ii,  Osteogenesis Imperfecta,  Dentinogenesis Imperfecta Osteogenesis Imperfecta Type Iii Show all 6
LEPREL1 leprecan-like 1 3q28 Myopia, High, With Cataract And Vitreoretinal Degeneration,  Vitreoretinal Degeneration,  Myopia,  Liposarcoma,  Myxoid Liposarcoma,  Breast Cancer,  Lens Subluxation,  Myopia 6 Cataract Show all 9
LEPREL4 leprecan-like 4 17q21.2 Cystitis
LEPROT leptin receptor overlapping transcript 1p31.3 Obesity Acute Promyelocytic Leukemia
LETM1 leucine zipper-EF-hand containing transmembrane protein 1 4p16.3 Wolf-Hirschhorn Syndrome
LETMD1 LETM1 domain containing 1 12q13.12 Cervical Cancer
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 7p22.3 Spondylocostal Dysostosis 3,  Spondylocostal Dysostosis,  Lfng-Related Spondylocostal Dysostosis, Autosomal Recessive,  Dysostosis,  Spondylocostal Dysostosis 1 Spondylocostal Dysostosis, Autosomal Recessive Show all 6
LFS3 Li-Fraumeni syndrome 3 1q23 Li-Fraumeni Syndrome 3
LGALS1 lectin, galactoside-binding, soluble, 1 22q13.1 Osteosarcoma,  Chondroblastic Osteosarcoma,  Benign Metastasizing Leiomyoma Fucosidosis Show all 4
LGALS2 lectin, galactoside-binding, soluble, 2 22q13.1 Myocardial Infarction
LGALS3 lectin, galactoside-binding, soluble, 3 14q22.3 Adult Astrocytic Tumour,  Follicular Adenoma,  Polymorphous Low-Grade Adenocarcinoma,  Chordoid Meningioma,  Histiocytic Sarcoma,  Oligodendroglioma,  Multicystic Dysplastic Kidney,  Papillary Thyroid Carcinoma,  Cholangiocarcinoma,  Chordoma,  Venezuelan Equine Encephalitis,  Papillary Carcinoma,  Astrocytoma,  Anaplastic Oligodendroglioma,  Myxopapillary Ependymoma,  Encephalitis,  Follicular Thyroid Carcinoma,  Pilocytic Astrocytoma,  Thyroid Cancer Goiter Show all 20
LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein 17q25.3 Ostertagiasis,  Henoch-Schoenlein Purpura Strongyloidiasis
LGALS4 lectin, galactoside-binding, soluble, 4 19q13.2 Colorectal Cancer,  Colon Adenocarcinoma Measles
LGALS7 lectin, galactoside-binding, soluble, 7 19q13.2 Bladder Squamous Cell Carcinoma Esophageal Squamous Cell Carcinoma
LGALS8 lectin, galactoside-binding, soluble, 8 1q43 Prostatic Hypertrophy Cholesteatoma
LGALS9 lectin, galactoside-binding, soluble, 9 17q11.2 Pneumococcal Meningitis
LGI1 leucine-rich, glioma inactivated 1 10q23.33 Autosomal Dominant Partial Epilepsy With Auditory Features,  Epilepsy, Familial Temporal Lobe, 1,  Glioblastoma,  Benign Epilepsy With Centrotemporal Spikes,  Temporal Lobe Epilepsy Limbic Encephalitis Show all 6
LGMD1D limb girdle muscular dystrophy 1D (autosomal dominant) 7q Cardiomyopathy, Dilated, 1F And Limb-Girdle Muscular Dystrophy Type 1D
LGMD1G limb girdle muscular dystrophy 1G (autosomal dominant) 4q21 Limb-Girdle Muscular Dystrophy Type 1G
LGMD1H limb girdle muscular dystrophy 1H (autosomal dominant) 3p25.1-p23 Limb-Girdle Muscular Dystrophy Type 1H
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 11p14.1 Bone Mineral Density, Low
LGR6 leucine-rich repeat containing G protein-coupled receptor 6 1q32.1 Myxedema Ovarian Cystadenoma
LGSN lengsin, lens protein with glutamine synthetase domain 6q12 Mucopolysaccharidosis Iv
LHB luteinizing hormone beta polypeptide 19q13.33 Hypogonadism Lhb-Related,  Drug Psychosis,  Frozen Shoulder,  Hypogonadism, Hypergonadotropic,  Leydig Cell Hypoplasia Due To Lhb Deficiency,  Male Pseudohermaphroditism Due To Defective Lh,  Tendinitis,  Calcific Tendinitis,  Infertility,  Hypogonadism,  Pseudohermaphroditism Asperger Syndrome Show all 12
LHCGR luteinizing hormone/choriogonadotropin receptor 2p16.3 Familial Male-Limited Precocious Puberty,  Leydig Cell Hypoplasia With Hypergonadotropic Hypogonadism,  Leydig Cell Hypoplasia With Pseudohermaphroditism,  Testotoxicosis,  Leydig Cells Hypoplasia,  Precocious Puberty, Male,  Precocious Puberty,  Hypogonadism,  Luteinizing Hormone Resistance, Female,  Leydig Cell Hypoplasia/agenesis,  Leydig Cell Adenoma, Somatic, With Precocious Puberty,  Adenoma,  Ovarian Epithelial Cancer,  Cushings Syndrome,  Pseudohermaphroditism,  Hyperandrogenism,  Amenorrhea Ovarian Cancer Show all 18
LHFP lipoma HMGIC fusion partner 13q14.11 Lipoma Chondroma
LHFPL5 lipoma HMGIC fusion partner-like 5 6p21.31 Deafness, Autosomal Recessive 67,  Dfnb67 Nonsyndromic Hearing Loss And Deafness,  Lipoma,  Vitreous Detachment,  Macular Holes,  Deafness And Hereditary Hearing Loss Deafness, Digenic, Gjb2/gjb3 Show all 7
LHX1 LIM homeobox 1 17q12 Mayer-Rokitansky-Kuster-Hauser Syndrome,  Murcs Association,  Classic Mayer-Rokitansky-K?ster-Hauser Syndrome,  17Q12 Microdeletion Syndrome Nephroblastoma Show all 5
LHX2 LIM homeobox 2 9q33.3 Schizencephaly
LHX3 LIM homeobox 3 9q34.3 Pituitary Hormone Deficiency, Combined 3,  Lhx3-Related Combined Pituitary Hormone Deficiency,  Thyrotoxicosis,  Pituitary Hypoplasia,  Neonatal Thyrotoxicosis,  Combined Pituitary Hormone Deficiency,  Hypopituitarism,  Borjeson-Forssman-Lehmann Syndrome,  Septo-Optic Dysplasia,  Panhypopituitarism,  Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function Acth Deficiency Show all 12
LHX4 LIM homeobox 4 1q25.2 Lhx4-Related Combined Pituitary Hormone Deficiency,  Pituitary Hormone Deficiency, Combined 4,  Pituitary Stalk Interruption Syndrome,  Pituitary Hypoplasia,  Isolated Growth Hormone Deficiency,  Hypopituitarism,  Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function,  Borjeson-Forssman-Lehmann Syndrome Combined Pituitary Hormone Deficiency Show all 9
LHX5 LIM homeobox 5 12q24.13 Keratosis Follicularis
LHX8 LIM homeobox 8 1p31.1 Odontoma Cleft Palate
LHX9 LIM homeobox 9 1q31.3 Frasier Syndrome
LI5 Lamellar ichthyosis 5 Autosomal Recessive Congenital Ichthyosis
LIAS lipoic acid synthetase 4p14 Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
LIF leukemia inhibitory factor 22q12.2 Stachybotrys Chartarum,  Complement Deficiency,  Malaria,  Acth-Secreting Pituitary Adenoma,  Myeloid Leukemia,  Histiocytosis,  Pregnancy Loss,  Meningococcemia,  Melanoma,  Neuroepithelioma Leukemia Show all 11
LIFR leukemia inhibitory factor receptor alpha 5p13.1 Stuve-Wiedemann Syndrome,  Adenoma,  Cold-Induced Sweating Syndrome,  Acth-Secreting Pituitary Adenoma,  Cerebral Meningioma Leukemia Show all 6
LIG1 ligase I, DNA, ATP-dependent 19q13.33 Dna Ligase I Deficiency Bloom Syndrome
LIG3 ligase III, DNA, ATP-dependent 17q12 Bloom Syndrome
LIG4 ligase IV, DNA, ATP-dependent 13q33.3 Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation,  Dna Ligase Iv Deficiency,  Dubowitz Syndrome,  Multiple Myeloma,  Primary Immunodeficiency Disease,  Omenn Syndrome,  Acoustic Neuroma,  Nijmegen Breakage Syndrome,  Neuroma,  Lynch Syndrome Breast Cancer Show all 11
LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 19q13.42 Alcohol Dependence
LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 19q13.42 Ascariasis Trichuriasis
LILRA4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 19q13.42 Blastic Plasmacytoid Dendritic Cell
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 19q13.42 Pre-Eclampsia Cytomegalovirus Infection
LIM2 lens intrinsic membrane protein 2, 19kDa 19q13.41 Cataract 19,  Cataract, Cortical Pulverulent, Late-Onset,  Cataract,  Cataract 1, Multiple Types Cataract 4, Multiple Types Show all 5
LIMK1 LIM domain kinase 1 7q11.23 Intracranial Aneurysm,  Williams Syndrome Williams-Beuren Syndrome
LIMS1 LIM and senescent cell antigen-like domains 1 2q12.3 Ebstein Anomaly Atrioventricular Septal Defect
LIN28A lin-28 homolog A (C. elegans) 1p36.11 Embryonal Tumor With Multilayered Rosettes Extragonadal Germ Cell Tumor
LIN28B lin-28 homolog B (C. elegans) 6q16.3 Neuroblastoma,  Idiopathic Central Precocious Puberty Central Precocious Puberty
LIN37 lin-37 homolog (C. elegans) 19q13.12 Central Pontine Myelinolysis Hemoglobin E Disease
LIN7A lin-7 homolog A (C. elegans) 12q21.31 Pulmonary Aspergilloma
LIN7C lin-7 homolog C (C. elegans) 11p14.1 Mood Disorder Wagr Syndrome
LINC00035 long intergenic non-protein coding RNA 35 7q11.23 Williams-Beuren Syndrome
LINC00162 long intergenic non-protein coding RNA 162 21q22.3 Narcolepsy
LINC00163 long intergenic non-protein coding RNA 163 21q22.3 Narcolepsy
LINC00165 long intergenic non-protein coding RNA 165 21q22.3 Narcolepsy
LINC00208 long intergenic non-protein coding RNA 208 8p23.1 Keratolytic Winter Erythema
LINC00529 long intergenic non-protein coding RNA 529 8p23.1 Keratolytic Winter Erythema
LINC00543 long intergenic non-protein coding RNA 543 13q12.2 Intrahepatic Cholangiocarcinoma
LINC00581 long intergenic non-protein coding RNA 581 6p22.3 West Syndrome
LINC00663 long intergenic non-protein coding RNA 663 19p13.11 Papillary Thyroid Carcinoma
LINC01090 long intergenic non-protein coding RNA 1090 2q32.1 Post-Traumatic Stress Disorder
LINC01114 long intergenic non-protein coding RNA 1114 2q12.1 Pancreatic Cancer
LINC01122 long intergenic non-protein coding RNA 1122 2p16.1 Cannabis Dependence
LINC01152 long intergenic non-protein coding RNA 1152 17q24.3 Campomelic Dysplasia
LINC01194 long intergenic non-protein coding RNA 1194 5p15.2 Pineocytoma
LINS lines homolog (Drosophila) 15q26.3 Theileriasis,  Lobular Neoplasia,  Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 2 Show all 4
LIPA lipase A, lysosomal acid, cholesterol esterase 10q23.31 Lysosomal Acid Lipase Deficiency,  Cholesterol Ester Storage Disease,  Wolman Disease,  Cholesteryl Ester Storage Disease,  Blepharitis,  Splenomegaly Lipid Storage Disease Show all 7
LIPC lipase, hepatic 15q21.3 Hepatic Lipase Deficiency,  Hyperlipidemia Due To Hepatic Triglyceride Lipase Deficiency,  Insulin Resistance,  Type 2 Diabetes Mellitus,  Hypoalphalipoproteinemia,  Diabetes Mellitus, Noninsulin-Dependent,  Hyperalphalipoproteinemia,  Benign Recurrent Intrahepatic Cholestasis,  Hypercholesterolemia,  Hyperlipoproteinemia Type Iii,  Familial Hyperlipidemia,  Acute Porphyria,  Atherosclerosis,  Hypertension, Insulin Resistance-Related,  Diabetes Mellitus, Noninsulin-Dependent, Late Onset,  Diabetes Mellitus, Type 2, Susceptiblity To,  Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, 2 Show all 18
LIPE lipase, hormone-sensitive 19q13.2 Abdominal Obesity-Metabolic Syndrome 4,  Obesity Familial Combined Hyperlipidemia
LIPF lipase, gastric 10q23.31 Wolman Disease,  Cholesterol Ester Storage Disease,  Lysosomal Acid Lipase Deficiency Cholesteryl Ester Storage Disease Show all 4
LIPG lipase, endothelial 18q21.1 Hyperalphalipoproteinemia
LIPH lipase, member H 3q27.2 Hypotrichosis 7,  Woolly Hair, Autosomal Recessive 2 With Or Without Hypotrichosis,  Hypotrichosis Simplex,  Hepatic Lipase Deficiency,  Woolly Hair, Autosomal Recessive,  Hypotrichosis 11,  Autosomal Recessive Hypotrichosis,  Diabetes Mellitus, Noninsulin-Dependent,  Monilethrix Woolly Hair, Autosomal Dominant Show all 10
LIPI lipase, member I 21q11.2 Hypertriglyceridemia
LIPN lipase, family member N 10q23.31 Ichthyosis, Congenital, Autosomal Recessive 8,  Ichthyosis, Congenital, Autosomal Recessive 4A Autosomal Recessive Congenital Ichthyosis
LIPT1 lipoyltransferase 1 2q11.2 Lipoyl Transferase 1 Deficiency Leigh Syndrome With Leukodystrophy
LITAF lipopolysaccharide-induced TNF factor 16p13.13 Charcot-Marie-Tooth Disease Type 1C,  Charcot-Marie-Tooth Neuropathy Type 1C,  Charcot-Marie-Tooth Disease Type 1,  Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Neuropathy Type 1 Show all 5
LKMCD Leukoencephalopathy with metaphyseal chondrodysplasia Xq25-q27 Leukoencephalopathy With Metaphyseal Chondrodysplasia
LMAN1 lectin, mannose-binding, 1 18q21.32 Combined Factor V And Viii Deficiency Factor Viii Deficiency
LMBR1 limb development membrane protein 1 7q36.3 Congenital Amputation,  Acheiropody,  Triphalangeal Thumb,  Radial Hemimelia, Bilateral,  Polydactyly Of A Triphalangeal Thumb, Bilateral,  Adactyly Of Foot, Bilateral,  Adactyly Of Foot, Unilateral,  Hypoplasia Of The Tibia With Polydactyly,  Polydactyly Of A Triphalangeal Thumb, Unilateral,  Radial Hemimelia, Unilateral,  Polydactyly,  Syndactyly Type 4,  Acropectoral Syndrome,  Hypoplastic Or Aplastic Tibia With Polydactyly,  Laurin-Sandrow Syndrome,  Polydactyly, Preaxial Type Ii,  Cblf,  Triphalangeal Thumb, Type I,  Triphalangeal Thumb Polysyndactyly Syndrome Syndactyly Show all 20
LMBRD1 LMBR1 domain containing 1 6q13 Cblf,  Methylmalonic Aciduria And Homocystinuria Type Cblf,  Hepatitis,  Homocystinuria,  Megaloblastic Anemia Disorders Of Intracellular Cobalamin Metabolism Show all 6
LMF1 lipase maturation factor 1 16p13.3 Lipase Deficiency Combined Hyperlipoproteinemia, Type Ib
LMLN leishmanolysin-like (metallopeptidase M8 family) 3q29 Esotropia,  Leishmaniasis Congenital Nystagmus
LMNA lamin A/C 1q22 Mandibuloacral Dysplasia With Type A Lipodystrophy,  Lmna-Related Dilated Cardiomyopathy,  Atypical Werner Syndrome,  Emery-Dreifuss Muscular Dystrophy,  Progeria,  Mandibuloacral Dysplasia,  Congenital Muscular Dystrophy,  Familial Partial Lipodystrophy,  Dilated Cardiomyopathy,  Laminopathy Type Decaudain-Vigouroux,  Lipoatrophic Diabetes,  Lmna-Related Cardiocutaneous Progeria Syndrome,  Lipodystrophy, Familial Partial, Type 2,  Progeria-Associated Arthropathy,  Familial Partial Lipodystrophy, Kobberling Type,  Cardiomyopathy, Dilated, 1A,  Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal,  Dilated Cardiomyopathy With Quadriceps Myopathy,  Autosomal Codominant Severe Lipodystrophic Laminopathy,  Charcot-Marie-Tooth Neuropathy Type 2B1,  Congenital Muscular Dystrophy, Lmna-Related,  Lmna-Related Muscle Diseases,  Charcot-Marie-Tooth Disease Type 2B1,  Emery-Dreifuss Muscular Dystrophy 2, Ad,  Lethal Restrictive Dermopathy, Lmna-Related,  Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism,  Limb-Girdle Muscular Dystrophy, Type 1B,  Heart-Hand Syndrome, Slovenian Type,  Progeroid Laminopathies,  Emery-Dreifuss Muscular Dystrophy 3, Ar,  Muscular Dystrophy,  Werner Syndrome,  Lipodystrophy,  Proximal Spinal Muscular Atrophy,  Atrioventricular Block,  Ovarian Cystadenoma,  Berardinelli-Seip Congenital Lipodystrophy,  Pelger-Huet Anomaly,  Myopathy With Postural Muscle Atrophy, X-Linked,  Mandibuloacral Dysplasia With Type B Lipodystrophy,  Tight Skin Contracture Syndrome, Lethal,  Emerinopathy,  Limb-Girdle Muscular Dystrophy,  Congenital Generalized Lipodystrophy,  Charcot-Marie-Tooth Disease,  Familial Dilated Cardiomyopathy,  Familial Atrial Fibrillation,  Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form,  Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form,  Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form,  Fanconi Anemia, Complementation Group A,  Charcot-Marie-Tooth Neuropathy Type 2 Cardiomyopathy, Dilated, 1E Show all 53
LMNB1 lamin B1 5q23.2 Leukodystrophy, Adult-Onset, Autosomal Dominant,  Leukodystrophy,  Progeria,  Progressive Muscular Atrophy Reynolds Syndrome Show all 5
LMNB2 lamin B2 19p13.3 Barraquer-Simons Syndrome,  Reynolds Syndrome,  Lipodystrophy Pelger-Huet Anomaly Show all 4
LMO1 LIM domain only 1 (rhombotin 1) 11p15.4 Acute T Cell Leukemia,  Exencephaly,  Cd3Epsilon Deficiency T-Cell Leukemia Show all 4
LMO2 LIM domain only 2 (rhombotin-like 1) 11p13 Acute Lymphoblastic Leukemia,  Gamma Chain Deficiency,  Lymphoblastic Leukemia,  Acute T Cell Leukemia Norrie Disease Show all 5
LMO4 LIM domain only 4 1p22.3 Acute T Cell Leukemia Breast Cancer
LMO7 LIM domain 7 13q22.2 Townes-Brocks Syndrome
LMOD1 leiomodin 1 (smooth muscle) 1q32.1 Graves Disease,  Steroid-Induced Glaucoma,  Coronary Restenosis Follicular Thyroid Carcinoma Show all 4
LMPH1B Lymphedema, hereditary, IB 6q16.2-q22.1 Lymphedema, Hereditary, Ib
LMX1A LIM homeobox transcription factor 1, alpha 1q23.3 Mucinous Cystadenocarcinoma Ovarian Mucinous Cystadenocarcinoma
LMX1B LIM homeobox transcription factor 1, beta 9q33.3 Nail-Patella Syndrome,  Genitopatellar Syndrome Meier-Gorlin Syndrome
LNCR1 Lung cancer 1 6q23-q25 Lung Cancer Susceptibility Lung Cancer
LNCR3 Lung cancer susceptibility 3 5p15.33 Lung Cancer Susceptibility 3,  Lung Cancer Lung Cancer Susceptibility
LNCR4 Lung cancer susceptibility 4 6p21.33 Lung Cancer Susceptibility 4,  Lung Cancer Lung Cancer Susceptibility
LNCR5 Lung cancer susceptibility 5 3q28 Lung Cancer Susceptibility 5,  Lung Cancer Lung Cancer Susceptibility
LNPEP leucyl/cystinyl aminopeptidase 5q15 Gestational Diabetes Insipidus,  Gestational Diabetes,  Pineoblastoma Epithelioid Trophoblastic Tumor Show all 4
LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase 4q12 Autoimmune Enteropathy Usher Syndrome, Type 1C
LNX2 ligand of numb-protein X 2 13q12.2 Q Fever
LOAS Leber optic atrophy, susceptibility to Xp11 Leber Hereditary Optic Neuropathy
LOC100128226 hypothetic protein 11q23.1 Alzheimers Disease
LOC100128265 uncharacterized LOC100128265 Xq27.3 Smallpox
LOC100128356 protein transactivated by hepatitis B virus E antigen 10p15.1 Hepatitis B Hepatitis B Virus Infection
LOC100132612 uncharacterized LOC100132612 14q32.2 Smallpox
LOC100216355 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene 11p13 Cbld
LOC100216356 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene Xq13.3 Cbld
LOC100288978 myeloma overexpressed 2 pseudogene 14q22.1 Myeloma
LOC100291666 serologically defined breast cancer antigen NY-BR-40 Breast Cancer
LOC100294362 uncharacterized LOC100294362 17q25.3 Moyamoya Disease
LOC100420430 glioblastoma amplified sequence pseudogene 2q22.3 Glioblastoma
LOC100420551 synovial sarcoma, X breakpoint 5 pseudogene Xp11.23 Synovial Sarcoma
LOC100421207 Fanconi anemia, complementation group L pseudogene Fanconi Anemia, Complementation Group L
LOC100421404 retinitis pigmentosa 9 (autosomal dominant) pseudogene Retinitis Pigmentosa 9 Retinitis Pigmentosa
LOC100422637 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) pseudogene 4p16.1 Influenza
LOC100422638 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) pseudogene 4p16.1 Influenza
LOC100422639 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) pseudogene 4p16.1 Influenza
LOC100500719 Hermansky-Pudlak syndrome 1 pseudogene 22q12.3 Hermansky-Pudlak Syndrome 1
LOC100506431 B2 RNA 6p25-p24 Non-Small Cell Lung Carcinoma
LOC100507346 uncharacterized LOC100507346 Pulmonary Function
LOC100508227 uncharacterized LOC100508227 3q27.3 Drug-Induced Liver Injury Due To Flucloxacillin
LOC100509457 HLA class II histocompatibility antigen, DQ alpha 1 chain-like Systemic Lupus Erythematosus
LOC100533717 breast cancer anti-estrogen resistance 1 pseudogene 15q11.1 Breast Cancer
LOC100533718 breast cancer anti-estrogen resistance 1 pseudogene 15q11.2 Breast Cancer
LOC100533757 Sjogren syndrome antigen B (autoantigen La) pseudogene 12q12 Sjogrens Syndrome
LOC101060835 HLA class II histocompatibility antigen, DQ beta 1 chain-like Systemic Lupus Erythematosus
LOC101927754 retinitis pigmentosa 1-like 1 protein-like Retinitis Pigmentosa
LOC102724250 neuroblastoma breakpoint family member 1-like Neuroblastoma
LOC152586 glycosyltransferase 54 domain-containing protein 4q31.1 Idiopathic Pulmonary Fibrosis
LOC152845 pleiomorphic adenoma gene-like 2 pseudogene 4q21.23 Adenoma
LOC285692 uncharacterized LOC285692 5p15.2 Hypersomnia
LOC389465 Sjogren syndrome antigen B pseudogene 7p21.3 Sjogrens Syndrome
LOC440792 proline dehydrogenase (oxidase) 1 pseudogene 22q11.21 Hyperprolinemia
LOC441996 aconitase 2, mitochondrial pseudogene 22q12.3 Smallpox
LOC442427 putative UPF0607 protein ENSP00000381418-like 9q21.32 Ulcerative Colitis
LOC619539 lentiginosis, inherited patterned 4q21.1-q22.3 Familial Generalized Lentiginosis
LOC619540 keratosis palmoplantaris papulosa 15q22-q24 Keratosis Palmoplantaris Papulosa
LOC641589 neuroblastoma breakpoint family, member 19-like 1q21.1 Neuroblastoma
LOC643387 TAR DNA binding protein pseudogene 2q37.3 Alzheimers Disease Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions
LOC644681 synovial sarcoma, X breakpoint 2 interacting protein pseudogene 3q13.11 Synovial Sarcoma
LOC645266 pre-mRNA processing factor 4B pseudogene 9q32 Crohns Disease
LOC646506 lysosomal-associated membrane protein 1 pseudogene Xp21.1 Alzheimers Disease
LOC646517 Wilms tumor 1 associated protein pseudogene 6p12.3 Wilms Tumor
LOC647132 DEAH (Asp-Glu-Ala-His) box polypeptide 29 pseudogene 1q31.1 Smallpox
LOC647275 purine nucleoside phosphorylase pseudogene 2p12 Purine Nucleoside Phosphorylase Deficiency
LOC653541 double homeobox, 4-like 4q35.2 Facioscapulohumeral Muscular Dystrophy
LOC653588 Sjogren syndrome antigen B (autoantigen La) pseudogene Xq11.1 Sjogrens Syndrome
LOC728989 phosphodiesterase 4D interacting protein pseudogene 1q21.1 Hiv-1
LOC729968 uncharacterized LOC729968 2q36.3 Smallpox
LONP1 lon peptidase 1, mitochondrial 19p13.3 Glossopharyngeal Neuralgia Merrf Syndrome
LONRF2 LON peptidase N-terminal domain and ring finger 2 2q11.2 Neuroblastoma
LOR loricrin 1q21.3 Vohwinkel Syndrome With Ichthyosis,  Molluscum Contagiosum,  Ichthyosis Vulgaris,  Irritant Dermatitis,  Porokeratosis,  Vohwinkel Syndrome,  Epidermolytic Hyperkeratosis,  Olmsted Syndrome,  Erythrokeratodermia Variabilis,  Oral Submucous Fibrosis Erythrokeratodermia Variabilis Et Progressiva Show all 11
LOX lysyl oxidase 5q23.2 Oral Submucous Fibrosis,  Occipital Horn Syndrome,  Intracranial Aneurysm,  Menkes Disease,  Bronchogenic Carcinoma,  Hereditary Cerebral Hemorrhage With Amyloidosis,  Gingival Overgrowth,  Cerebral Hemorrhage,  Marfan Syndrome Pancreatic Cancer Show all 10
LOXHD1 lipoxygenase homology domains 1 18q21.1 Deafness, Autosomal Recessive 77,  Dfnb77 Nonsyndromic Hearing Loss And Deafness,  Deafness And Hereditary Hearing Loss,  Fuchs Endothelial Dystrophy Deafness, Digenic, Gjb2/gjb3 Show all 5
LOXL1 lysyl oxidase-like 1 15q24.1 Iris Disease,  Exfoliation Syndrome,  Primary Angle-Closure Glaucoma Open-Angle Glaucoma Show all 4
LPA lipoprotein, Lp(a) 6q26 Atherosclerosis,  Hyperlipoproteinemia Type Iii,  Familial Hdl Deficiency,  Norum Disease,  Alagille Syndrome,  Familial Hyperlipidemia,  Artery Disease,  Hypercholesterolemia,  Aortic Valve Disease,  Amyloidosis, Secondary,  Myocardial Infarction,  Hypertriglyceridemia,  Hypoalphalipoproteinemia Coronary Artery Anomaly Show all 14
LPAL2 lipoprotein, Lp(a)-like 2, pseudogene 6q25.3 Atherosclerosis
LPAR1 lysophosphatidic acid receptor 1 9q31.3 Neuroblastoma
LPAR2 lysophosphatidic acid receptor 2 19p13.11 Secretory Diarrhea Ovarian Cancer
LPAR6 lysophosphatidic acid receptor 6 13q14.2 Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis,  Hypotrichosis 8,  Woolly Hair, Autosomal Recessive,  Hypotrichosis 11,  Hypotrichosis Simplex,  Woolly Hair, Autosomal Dominant,  Autosomal Recessive Hypotrichosis Hypotrichosis Show all 8
LPCAT3 lysophosphatidylcholine acyltransferase 3 12p13.31 Brachydactyly-Syndactyly Syndrome
LPHN1 latrophilin 1 19p13.12 Dermatophytosis
LPHN3 latrophilin 3 4q13.1 Sialuria
LPIN1 lipin 1 2p25.1 Myoglobinuria, Acute Recurrent, Autosomal Recessive Lipodystrophy
LPIN2 lipin 2 18p11.31 Majeed Syndrome,  Chronic Recurrent Multifocal Osteomyelitis,  Sapho Syndrome,  Insulin Resistance,  Hypertriglyceridemia,  Myopia-2,  Osteomyelitis Lipodystrophy Show all 8
LPIN3 lipin 3 20q12 Insulin Resistance,  Hypertriglyceridemia Lipodystrophy
LPL lipoprotein lipase 8p21.3 Familial Lipoprotein Lipase Deficiency,  Familial Combined Hyperlipidemia,  Hyperlipoproteinemia Type V,  Hyperlipoproteinemia, Type Ib,  Lipid Metabolism Disorder,  Hypertriglyceridemia,  Metabolic Syndrome X,  Hypoalphalipoproteinemia,  Wrinkles,  Hepatic Lipase Deficiency,  Pancreatitis,  Hyperapobetalipoproteinemia,  Hypercholesterolemia,  Biotinidase Deficiency,  Obesity,  Carotid Intimal Medial Thickness,  Acanthocytosis,  Familial Hypertriglyceridemia,  Insulin Resistance,  Steatorrhea,  Tangier Disease,  Boutonneuse Fever,  Familial Hyperlipidemia,  Hyperlipoproteinemia Type Iii,  Hyperalphalipoproteinemia Type 2 Diabetes Mellitus Show all 26
LPO lactoperoxidase 17q22 Gingival Disease
LPP LIM domain containing preferred translocation partner in lipoma 3q27.3 Lipoma,  Acute Myeloid Leukemia,  Vacterl Association,  Urethral Intrinsic Sphincter Deficiency,  Tracheoesophageal Fistula,  Acute T Cell Leukemia Chondroma Show all 7
LPRS Leprosy, susceptibility to 1 10p13 Leprosy, Paucibacillary Type
LPRS6 Leprosy, susceptiblity to, 6 13q14.11 Leprosy, Susceptiblity To, 6 Leprosy
LPSA Oncogene liposarcoma (DNA segment, single copy, expressed, probes 19p13.2-q13.3 Liposarcoma
LPXN leupaxin 11q12.1 Familial Hypercholesterolemia,  Hypercholesterolemia Chronic Pyelonephritis
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 4q31.3 Lrat-Related Leber Congenital Amaurosis,  Retinal Dystrophy, Early-Onset, Severe,  Retinitis Pigmentosa, Juvenile,  Lrat-Related Retinitis Pigmentosa,  Leber Congenital Amaurosis,  Retinitis Pigmentosa,  Severe Early-Childhood-Onset Retinal Dystrophy Leber Congenital Amaurosis 10 Show all 8
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 4q31.3 Immunodeficiency, Common Variable, 8, With Autoimmunity,  Common Variable Immunodeficiency Immunodeficiency, Common Variable, 3
LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 13q14.13 Osteoarthritis
LRG1 leucine-rich alpha-2-glycoprotein 1 19p13.3 Normal Pressure Hydrocephalus
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 1p13.2 Urofacial Syndrome 2,  Lrig2-Related Urofacial Syndrome,  Urofacial Syndrome Urofacial Syndrome 1 Show all 4
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 4q25 Congenital Stationary Night Blindness, Type 1F,  Night Blindness, Congenital Stationary , 1F, Autosomal Recessive,  Blindness,  Congenital Stationary Night Blindness, Autosomal Dominant 2,  Night Blindness Alcohol Dependence Show all 6
LRMP lymphoid-restricted membrane protein 12p12.1 Lung Adenoma
LRP1 low density lipoprotein receptor-related protein 1 12q13.3 Compartment Syndrome,  Cerebral Amyloid Angiopathy,  Alzheimers Disease Liposarcoma Show all 4
LRP12 low density lipoprotein receptor-related protein 12 8q22.3 Familial Cold Autoinflammatory Syndrome 2 Familial Cold Autoinflammatory Syndrome
LRP2 low density lipoprotein receptor-related protein 2 2q31.1 Donnai-Barrow Syndrome,  Cystinosis,  Nephritis,  Proteinuria,  Dents Disease,  Nephropathic Cystinosis,  Nephrocalcinosis,  Aromatase Deficiency Cerebral Lymphoma Show all 9
LRP4 low density lipoprotein receptor-related protein 4 11p11.2 Sclerosteosis 2,  Syndactyly Cenani Lenz Type,  Sost-Related Sclerosing Bone Dysplasia,  Syndactyly Myasthenia, Limb-Girdle, Familial Show all 5
LRP5 low density lipoprotein receptor-related protein 5 11q13.2 High Bone Mass Trait,  Exudative Vitreoretinopathy 4,  Osteoporosis-Pseudoglioma Syndrome,  Idiopathic Juvenile Osteoporosis,  Osteosclerosis,  Hyperostosis,  Osteoporosis,  Hyperostosis, Endosteal,  Osteopetrosis Autosomal Dominant Type 1,  Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome,  Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus,  Worths Syndrome,  Van Buchem Disease Type 2,  Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive,  Lrp5-Related Autosomal Dominant Osteopetrosis,  Lrp5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant,  Hyperostosis Corticalis Generalisata,  Polycystic Liver Disease,  Sost-Related Sclerosing Bone Dysplasia,  Exudative Vitreoretinopathy,  Craniodiaphyseal Dysplasia,  Type 1 Diabetes Mellitus,  Glanders,  Exudative Vitreoretinopathy 1,  Camurati-Engelmann Disease,  Norrie Disease,  Familial Exudative Vitreoretinopathy, Autosomal Dominant,  Diabetes Mellitus,  Hypotrichosis Simplex Osteoporosis, Early-Onset Autosomal Dominant Show all 30
LRP6 low density lipoprotein receptor-related protein 6 12p13.2 Coronary Artery Disease, Autosomal Dominant, 2,  Artery Disease Sost-Related Sclerosing Bone Dysplasia
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 1p32.3 Myocardial Infarction, Susceptibility To, 1,  Major Depressive Disorder,  Myocardial Infarction,  Lissencephaly With Cerebellar Hypoplasia,  Osteoporosis-Pseudoglioma Syndrome,  Myocardial Infarcation,  Myocardial Infarction, Decreased,  Myocardial Infarction, Protection Against Lissencephaly Show all 9
LRPAP1 low density lipoprotein receptor-related protein associated protein 1 4p16.3 Myopia 23, Autosomal Recessive,  Myopia Myopia 6
LRPPRC leucine-rich pentatricopeptide repeat containing 2p21 Leigh Syndrome, French Canadian Type
LRRC16A leucine rich repeat containing 16A 6p22.2 Acute Urate Nephropathy
LRRC26 leucine rich repeat containing 26 9q34.3 Intrahepatic Cholangiocarcinoma
LRRC4C leucine rich repeat containing 4C 11p12 Extragonadal Seminoma
LRRC6 leucine rich repeat containing 6 8q24.22 Ciliary Dyskinesia, Primary, 19,  Primary Ciliary Dyskinesia19: Lrrc6-Related Primary Ciliary Dyskinesia Ciliary Dyskinesia, Primary, 11
LRRC8A leucine rich repeat containing 8 family, member A 9q34.11 Agammaglobulinemia 5,  Agammaglobulinemia Agammaglobulinemia 1
LRRK1 leucine-rich repeat kinase 1 15q26.3 Parkinsons Disease
LRRK2 leucine-rich repeat kinase 2 12q12 Parkinson Disease 8,  Lrrk2-Related Parkinson Disease,  Parkinsons Disease,  Tremor,  Essential Tremor,  Primary Progressive Aphasia,  Parkinson Disease 1,  Rheumatoid Arthritis Movement Disease Show all 9
LRRN1 leucine rich repeat neuronal 1 3p26.2 Atrioventricular Septal Defect
LRRN3 leucine rich repeat neuronal 3 7q31.1 Autism Spectrum Disorder
LRRTM1 leucine rich repeat transmembrane neuronal 1 2p12 Autism Spectrum Disorder
LRRTM3 leucine rich repeat transmembrane neuronal 3 10q21.3 Autism Spectrum Disorder Alzheimers Disease
LRSAM1 leucine rich repeat and sterile alpha motif containing 1 9q33.3 Mixed Malaria,  Charcot-Marie-Toothe Disease, Axonal, Type 2P,  Charcot-Marie-Tooth Neuropathy Type 2P,  Charcot-Marie-Tooth Neuropathy Type 2 Malaria Show all 5
LRSL Larsen-like syndrome 6p25 Larsen-Like Syndrome Larsen Syndrome
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing 11q13.4 Deafness, Autosomal Recessive 63,  Nonsyndromic Deafness,  Dfnb63 Nonsyndromic Hearing Loss And Deafness,  Autosomal Recessive Nonsyndromic Deafness Deafness, Digenic, Gjb2/gjb3 Show all 5
LSG1 large 60S subunit nuclear export GTPase 1 3q29 Tick Infestation
LSM1 LSM1, U6 small nuclear RNA associated 8p11.23 Lung Cancer Breast Cancer
LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) 6p21.33 Rheumatic Disease Connective Tissue Disease
LSP1 lymphocyte-specific protein 1 11p15.5 Breast Cancer Susceptibility
LSR lipolysis stimulated lipoprotein receptor 19q13.12 Prosopagnosia,  Visual Agnosia Radiculopathy
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 21q22.3 Syndactyly Type 4,  Hypoplastic Or Aplastic Tibia With Polydactyly,  Laurin-Sandrow Syndrome,  Triphalangeal Thumb, Type I,  Polydactyly, Preaxial Type Ii,  Triphalangeal Thumb Polysyndactyly Syndrome,  Dependent Personality Disorder,  Acheiropody,  Candida Glabrata,  Spondylolisthesis Spinal Stenosis Show all 11
LST1 leukocyte specific transcript 1 6p21.33 Hyperbilirubinemia, Rotor Type, Digenic
LTA lymphotoxin alpha 6p21.33 Dengue Hemorrhagic Fever,  Spondylarthropathy,  Psoriatic Arthritis,  Leprosy 4,  Myocardial Infarction,  Shigellosis,  Monoclonal Gammopathy Of Uncertain Significance,  Leprosy,  Chronic Venous Leg Ulcers,  Sarcoidosis,  Cardiac Sarcoidosis,  Transient Hypogammaglobulinemia,  Post-Transplant Lymphoproliferative Disease,  Coronary Aneurysm,  Posterior Uveitis,  Sympathetic Ophthalmia,  Non-Hodgkin Lymphoma,  Toxic Shock Syndrome,  Arthritis,  Leishmaniasis,  Malignant Histiocytosis,  Uveitis,  Behcets Disease,  Obstructive Lung Disease,  Optic Neuritis,  Duodenal Ulcer,  Neuritis,  Tonsillitis,  Myasthenia Gravis,  Cutaneous Leishmaniasis,  Yellow Fever,  Nephritis,  Periodontitis,  Rheumatoid Arthritis Atopy Show all 35
LTB4R leukotriene B4 receptor 14q12 Pancreatic Cancer
LTBP1 latent transforming growth factor beta binding protein 1 2p22.3 Geleophysic Dysplasia
LTBP2 latent transforming growth factor beta binding protein 2 14q24.3 Glaucoma 3, Primary Congenital, D,  Primary Congenital Glaucoma,  Weill-Marchesani Syndrome,  Ltbp2-Related Primary Congenital Glaucoma,  Ltbp2-Related Weill-Marchesani Syndrome,  Marfan Syndrome,  Glaucoma, Congenital,  Weill-Marchesani Syndrome 1, Recessive,  Glaucoma 3A, Primary Open Angle, Congenital, Juvenile, Or Adult Onset,  Buphthalmos,  Varicose Veins,  Weill-Marchesani-Like Syndrome,  Tooth Agenesis, Selective, 6,  Megalocornea - Spherophakia - Secondary Glaucoma Weill-Marchesani Syndrome 3, Recessive Show all 15
LTBP3 latent transforming growth factor beta binding protein 3 11q13.1 Tooth Agenesis, Selective, 6,  Megalocornea - Spherophakia - Secondary Glaucoma,  Weill-Marchesani Syndrome 3, Recessive,  Tooth Agenesis, Selective, 1, With Or Without Orofacial Cleft,  Weill-Marchesani Syndrome,  Glaucoma 3, Primary Congenital, D Tooth Agenesis Show all 7
LTBP4 latent transforming growth factor beta binding protein 4 19q13.2 Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities,  Cutis Laxa, Autosomal Recessive, Type Ic,  Duchenne Muscular Dystrophy Cutis Laxa Show all 4
LTC4S leukotriene C4 synthase 5q35.3 Leukotriene C4 Synthase Deficiency,  Henoch-Schoenlein Purpura,  Atopy,  Asthma,  Urticaria,  Venous Thromboembolism,  Abdominal Aortic Aneurysm Sinusitis Show all 8
LTF lactotransferrin 3p21.31 Salivary Gland Disease,  Inflammatory Diarrhea,  Laryngeal Disease,  Clostridium Difficile Colitis,  Proctitis,  Dermatophytosis,  Keratoconjunctivitis Sicca,  Blepharitis,  Microsporidiosis,  Lactose Intolerance,  Mastitis,  Oral Candidiasis,  Rheumatoid Vasculitis,  Radiation Proctitis,  Colitis,  Polyarteritis Nodosa,  Urethritis,  Dental Caries,  Shigellosis,  Diarrhea,  Periodontitis,  Acute Diarrhea,  Perinatal Necrotizing Enterocolitis,  Amyloidosis, Secondary,  Dry Eye Syndrome,  Cryptosporidiosis,  Collagenous Colitis,  Vasculitis,  Parotitis,  Churg-Strauss Syndrome,  Candidiasis,  Prostatitis Cholangitis Show all 33
LTV1 LTV1 ribosome biogenesis factor 6q24.2 Spinal Cord Disease Strongyloidiasis
LUCAT1 lung cancer associated transcript 1 (non-protein coding) 5q14.3 Lung Cancer
LUM lumican 12q21.33 Posterior Amorphous Corneal Dystrophy
LUZP2 leucine zipper protein 2 11p14.3 Aniridia Wilms Tumor
LUZP4 leucine zipper protein 4 Xq23 Parapsoriasis
LVNC2 noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2 11p15 Left Ventricular Noncompaction 2
LVSKS Levy-Shanske syndrome 15q26-qter Levy-Shanske Syndrome
LXN latexin 3q25.32 Endocervicitis,  Atypical Autism Listeriosis
LY6E lymphocyte antigen 6 complex, locus E 8q24.3 Subvalvular Aortic Stenosis Acute Promyelocytic Leukemia
LY6G6D lymphocyte antigen 6 complex, locus G6D 6p21.33 Childhood Leukemia
LY75 lymphocyte antigen 75 2q24.2 Lipid Pneumonia
LY9 lymphocyte antigen 9 1q23.3 Dysgammaglobulinemia
LY96 lymphocyte antigen 96 8q21.11 Intestinal Botulism,  Wound Botulism,  Neonatal Abstinence Syndrome Botulism Show all 4
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1 19p13.2 Leukemia, T-Cell Acute Lymphoblastoid,  Acute Lymphoblastic Leukemia,  Lymphoblastic Leukemia,  Leukemia,  Acute Leukemia Acute Myeloid Leukemia Show all 6
LYN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 8q12.1 Acanthocytosis,  Chorea-Acanthocytosis Sarcoma
LYNX1 Ly6/neurotoxin 1 8q24.3 Psoriasis
LYPD1 LY6/PLAUR domain containing 1 2q21.2 Bannayan-Riley-Ruvalcaba Syndrome,  Ruvalcaba Syndrome Cowden Disease
LYPD3 LY6/PLAUR domain containing 3 19q13.31 Esophageal Squamous Cell Carcinoma
LYPLA2P1 lysophospholipase II pseudogene 1 6p21.32 Systemic Lupus Erythematosus
LYRM4 LYR motif containing 4 6p25.1 Combined Oxidative Phosphorylation Deficiency 19
LYRM7 LYR motif containing 7 5q23.3 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 Mitochondrial Complex Iii Deficiency, Nuclear Type 1
LYST lysosomal trafficking regulator 1q42.3 Chediak-Higashi Syndrome,  Attenuated Ch?diak-Higashi Syndrome,  Exfoliation Syndrome Platelet Storage Pool Deficiency Show all 4
LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 11p15.4 Kaposis Sarcoma,  Prostate Cancer,  Complete Androgen Insensitivity Syndrome,  Kennedys Disease,  Liver Cancer,  Breast Cancer Ovarian Cancer Show all 7
LYZ lysozyme 12q15 Reticulosarcoma,  Microscopic Colitis,  Amyloidosis, Renal,  Lyz-Related Familial Visceral Amyloidosis,  Familial Renal Amyloidosis Due To Lysozyme Variant,  Amyloidosis,  Tuberculous Meningitis,  Malignant Fibroxanthoma,  Myeloid Sarcoma,  Familial Visceral Amyloidosis,  Hereditary Amyloidosis,  Hypersensitivity Reaction Type Ii Disease,  Amyloidosis, 3 Or More Types,  Bacterial Meningitis,  Meningitis Mastitis Show all 16
LZTFL1 leucine zipper transcription factor-like 1 3p21.31 Bardet-Biedl Syndrome 17,  Bardet-Biedl Syndrome 2,  Bardet-Biedl Syndrome 14, Modifier Of,  Bardet-Biedl Syndrome 1, Modifier Of,  Bardet-Biedl Syndrome 1,  Bardet-Biedl Syndrome Obesity Show all 7
LZTR1 leucine-zipper-like transcription regulator 1 22q11.21 Schwannomatosis-2,  Gliosarcoma,  Giant Cell Glioblastoma,  Neurilemmomatosis Digeorge Syndrome Show all 5
LZTS1 leucine zipper, putative tumor suppressor 1 8p21.3 Collecting Duct Carcinoma,  Esophageal Squamous Cell Carcinoma Esophageal Cancer

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science
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