Validation Results With Nejm Articles
Gene MeSH Disease Term Score 12 gene2pubmed
BTBD9 (114781) Nocturnal Myoclonus Syndrome 1086 17634447 A genetic risk factor for periodic limb movements in sleep.
NLRP5 (126206) Polyendocrinopathies, Autoimmune 2112 18322283 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
MEIS1 (4211) Nocturnal Myoclonus Syndrome 1437 18216367 A genetic risk factor for periodic limb movements in sleep.
SLC9A3R1 (9368) Bone Demineralization, Pathologic 2818 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
FGGY (55277) Motor Neuron Disease 10015 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
C2orf25 (27249) Homocystinuria 3356 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
BDNF (627) WAGR Syndrome 1608 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
BTBD9 (114781) Restless Legs Syndrome 2563 17634447 A genetic risk factor for periodic limb movements in sleep.
COL4A1 (1282) Muscle Cramp 4834 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
NLRP5 (126206) Hypoparathyroidism 5288 18322283 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
BDNF (627) Aniridia 2282 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
FGGY (55277) Spinal Cord Diseases 13865 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
BTF3L1 (690) Bone Diseases 17196 18445777 Multiple genetic loci for bone mineral density and fractures.
ZBTB40 (9923) Fractures, Bone 11304 18445777 Multiple genetic loci for bone mineral density and fractures.
BTF3L1 (690) Fractures, Bone 11309 18445777 Multiple genetic loci for bone mineral density and fractures.
BTBD9 (114781) Parasomnias 3586 17634447 A genetic risk factor for periodic limb movements in sleep.
SDHC (6391) Gastrointestinal Stromal Tumors 1984 17804857 Familial gastrointestinal stromal tumors and germ-line mutations.
FGGY (55277) Amyotrophic Lateral Sclerosis 7039 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
BTF3L1 (690) Wounds and Injuries 18839 18445777 Multiple genetic loci for bone mineral density and fractures.
BTF3L1 (690) Disorders of Environmental Origin 21176 18445777 Multiple genetic loci for bone mineral density and fractures.
BTF3L1 (690) Bone Diseases, Metabolic 10894 18445777 Multiple genetic loci for bone mineral density and fractures.
C2orf25 (27249) Central Nervous System Diseases 20422 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
C2orf25 (27249) Brain Diseases 19895 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
ZBTB40 (9923) Wounds and Injuries 18840 18445777 Multiple genetic loci for bone mineral density and fractures.
ZBTB40 (9923) Bone Diseases, Metabolic 10889 18445777 Multiple genetic loci for bone mineral density and fractures.
FGGY (55277) Central Nervous System Diseases 20422 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
SDHB (6390) Gastrointestinal Stromal Tumors 2012 17804857 Familial gastrointestinal stromal tumors and germ-line mutations.
BTF3L1 (690) Musculoskeletal Diseases 19616 18445777 Multiple genetic loci for bone mineral density and fractures.
BTF3L1 (690) Osteoporosis 9100 18445777 Multiple genetic loci for bone mineral density and fractures.
C6orf10 (10665) Fractures, Bone 11315 18445777 Multiple genetic loci for bone mineral density and fractures.
ZBTB40 (9923) Osteoporosis 9095 18445777 Multiple genetic loci for bone mineral density and fractures.
ZBTB40 (9923) Disorders of Environmental Origin 21176 18445777 Multiple genetic loci for bone mineral density and fractures.
C6orf10 (10665) Bone Diseases, Metabolic 10894 18445777 Multiple genetic loci for bone mineral density and fractures.
C6orf10 (10665) Disorders of Environmental Origin 21176 18445777 Multiple genetic loci for bone mineral density and fractures.
MEIS1 (4211) Parasomnias 3774 18216367 A genetic risk factor for periodic limb movements in sleep.
FGGY (55277) Neuromuscular Diseases 17090 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
CLEC16A (23274) Disease Attributes 20735 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
BTBD9 (114781) Sleep Disorders, Intrinsic 8646 17634447 A genetic risk factor for periodic limb movements in sleep.
C6orf10 (10665) Osteoporosis 9102 18445777 Multiple genetic loci for bone mineral density and fractures.
C2orf25 (27249) Amino Acid Metabolism, Inborn Errors 9301 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
C2orf25 (27249) Nervous System Diseases 21519 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
CLEC16A (23274) Autoimmune Diseases 17715 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
NLRP5 (126206) Parathyroid Diseases 8431 18322283 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
BTBD9 (114781) Dyssomnias 9443 17634447 A genetic risk factor for periodic limb movements in sleep.
FLJ22536 (401237) Disease Attributes 20735 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FGGY (55277) Disease Attributes 20735 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
CLEC16A (23274) Nervous System Diseases 21519 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
CLEC16A (23274) Pathologic Processes 22482 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
BTBD9 (114781) Sleep Disorders 10345 17634447 A genetic risk factor for periodic limb movements in sleep.
CLEC16A (23274) Multiple Sclerosis 10277 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
FGGY (55277) Nervous System Diseases 21519 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
CLEC16A (23274) Autoimmune Diseases of the Nervous System 12924 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
ZBTB40 (9923) Musculoskeletal Diseases 19616 18445777 Multiple genetic loci for bone mineral density and fractures.
CLEC16A (23274) Pathological Conditions, Signs and Symptoms 22837 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
FAM167A (83648) Lupus Erythematosus, Systemic 11034 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
C6orf10 (10665) Wounds and Injuries 18840 18445777 Multiple genetic loci for bone mineral density and fractures.
SDHD (6392) Gastrointestinal Stromal Tumors 2023 17804857 Familial gastrointestinal stromal tumors and germ-line mutations.
FAM167A (83648) Connective Tissue Diseases 16422 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
ZBTB40 (9923) Bone Diseases 17196 18445777 Multiple genetic loci for bone mineral density and fractures.
FAM167A (83648) Autoimmune Diseases 17715 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
CLEC16A (23274) Demyelinating Autoimmune Diseases, CNS 11407 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
CLEC16A (23274) Demyelinating Diseases 12971 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
CLEC16A (23274) Immune System Diseases 20799 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
FLJ22536 (401237) Pathological Conditions, Signs and Symptoms 22837 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FGGY (55277) Pathological Conditions, Signs and Symptoms 22837 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
BTBD9 (114781) Disease Attributes 20735 17634447 A genetic risk factor for periodic limb movements in sleep.
C6orf10 (10665) Musculoskeletal Diseases 19616 18445777 Multiple genetic loci for bone mineral density and fractures.
C2orf25 (27249) Brain Diseases, Metabolic 12386 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
TLR3 (7098) Choroidal Neovascularization 2902 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
FLJ22536 (401237) Pathologic Processes 22482 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FGGY (55277) Pathologic Processes 22482 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
C2orf25 (27249) Skin and Connective Tissue Diseases 20679 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
C2orf25 (27249) Metabolic Diseases 20035 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
C2orf25 (27249) Nutritional and Metabolic Diseases 20533 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
MTHFD1L (25902) Coronary Disease 12440 17634449 Genomewide association analysis of coronary artery disease.
MTHFD1L (25902) Arterial Occlusive Diseases 13844 17634449 Genomewide association analysis of coronary artery disease.
C2orf25 (27249) Connective Tissue Diseases 16422 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
FAM167A (83648) Immune System Diseases 20799 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
BTBD9 (114781) Pathologic Processes 22482 17634447 A genetic risk factor for periodic limb movements in sleep.
BTBD9 (114781) Pathological Conditions, Signs and Symptoms 22837 17634447 A genetic risk factor for periodic limb movements in sleep.
C6orf10 (10665) Bone Diseases 17199 18445777 Multiple genetic loci for bone mineral density and fractures.
BDNF (627) Iris Diseases 5586 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
MTHFD1L (25902) Heart Diseases 18154 17634449 Genomewide association analysis of coronary artery disease.
MTHFD1L (25902) Arteriosclerosis 12645 17634449 Genomewide association analysis of coronary artery disease.
NLRP5 (126206) Endocrine System Diseases 19613 18322283 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
FLJ22536 (401237) Neoplasms, Nerve Tissue 16782 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
C2orf25 (27249) Brain Diseases, Metabolic, Inborn 11153 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
FLJ22536 (401237) Neoplasms, Germ Cell and Embryonal 16963 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
BCS1L (617) Hair Diseases 9231 17314340 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
MTHFD1L (25902) Myocardial Infarction 12453 17634449 Genomewide association analysis of coronary artery disease.
FGGY (55277) Neurodegenerative Diseases 15996 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
MTHFD1L (25902) Myocardial Ischemia 14755 17634449 Genomewide association analysis of coronary artery disease.
NLRP5 (126206) Autoimmune Diseases 17715 18322283 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
IYD (389434) Goiter 9064 18434651 Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
MTHFD1L (25902) Vascular Diseases 19740 17634449 Genomewide association analysis of coronary artery disease.
MTHFD1L (25902) Cardiovascular Diseases 20357 17634449 Genomewide association analysis of coronary artery disease.
RAG1 (5896) Chickenpox 5451 18463379 An immunodeficiency disease with RAG mutations and granulomas.
DBC1 (1620) Multiple Sclerosis 10288 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
FLJ22536 (401237) Neuroectodermal Tumors 16487 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
RAG2 (5897) Chickenpox 5455 18463379 An immunodeficiency disease with RAG mutations and granulomas.
FLJ22536 (401237) Neuroectodermal Tumors, Primitive, Peripheral 10465 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FLJ22536 (401237) Neuroblastoma 10326 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FLJ22536 (401237) Neuroectodermal Tumors, Primitive 11034 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
GYS1 (2997) Aortic Stenosis, Subvalvular 5616 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
BTBD9 (114781) Nervous System Diseases 21519 17634447 A genetic risk factor for periodic limb movements in sleep.
FLJ22536 (401237) Cell Transformation, Neoplastic 11858 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
C2orf25 (27249) Congenital, Hereditary, and Neonatal Diseases and Abnormalities 20430 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
SLC9A3R1 (9368) Kidney Calculi 7138 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
SLC9A3R1 (9368) Nephrolithiasis 7138 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
GYS1 (2997) Cardiomyopathy, Hypertrophic 5608 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
C2orf25 (27249) Metabolism, Inborn Errors 15359 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
FLJ22536 (401237) Neoplasms, Glandular and Epithelial 18850 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
NLRP5 (126206) Immune System Diseases 20799 18322283 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
FLJ22536 (401237) Neoplasms 21585 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FLJ22536 (401237) Neoplastic Processes 15978 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
GYS1 (2997) Aortic Valve Stenosis 7770 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
FLJ22536 (401237) Genetic Predisposition to Disease 12817 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FGGY (55277) Genetic Predisposition to Disease 12817 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
SLCO1B1 (10599) Muscular Diseases 15529 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
FLJ22536 (401237) Neoplasms, Neuroepithelial 13681 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FLJ22536 (401237) Disease Susceptibility 15401 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
FGGY (55277) Disease Susceptibility 15401 17671248 Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
SLCO1B1 (10599) Neuromuscular Diseases 17093 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
SLC9A3R1 (9368) Urological Manifestations 11961 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
GYS1 (2997) Glycogen Storage Disease 5360 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
DBC1 (1620) Demyelinating Autoimmune Diseases, CNS 11412 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
TLR3 (7098) Choroid Diseases 6755 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
CLEC16A (23274) Disease Susceptibility 15401 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
GYS1 (2997) Heart Valve Diseases 10378 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
DBC1 (1620) Autoimmune Diseases of the Nervous System 12927 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
CLEC16A (23274) Genetic Predisposition to Disease 12817 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
TLR3 (7098) Macular Degeneration 5236 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
FLJ22536 (401237) Neoplasms by Histologic Type 20430 18463370 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
SLC9A3R1 (9368) Urinary Calculi 8504 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
SLC9A3R1 (9368) Urolithiasis 8504 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
RPL5 (6125) Multiple Sclerosis 10340 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
DBC1 (1620) Demyelinating Diseases 12972 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
COL4A1 (1282) Hematuria 7176 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
BTBD9 (114781) Genetic Predisposition to Disease 12817 17634447 A genetic risk factor for periodic limb movements in sleep.
RPL5 (6125) Demyelinating Autoimmune Diseases, CNS 11457 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
BTBD9 (114781) Disease Susceptibility 15401 17634447 A genetic risk factor for periodic limb movements in sleep.
SLC9A3R1 (9368) Calculi 9971 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
BCS1L (617) Skin Diseases 20349 17314340 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
RPL5 (6125) Autoimmune Diseases of the Nervous System 12957 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
COL4A1 (1282) Kidney Diseases, Cystic 7087 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
MTHFD1L (25902) Disease Attributes 20735 17634449 Genomewide association analysis of coronary artery disease.
SLCO1B1 (10599) Musculoskeletal Diseases 19617 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
PKLR (5313) Malaria, Falciparum 6217 18420493 Pyruvate kinase deficiency and malaria.
HLA-E (3133) Fractures, Bone 11476 18445777 Multiple genetic loci for bone mineral density and fractures.
MEIS1 (4211) Sleep Disorders, Intrinsic 8725 18216367 A genetic risk factor for periodic limb movements in sleep.
HLA-E (3133) Osteoporosis 9223 18445777 Multiple genetic loci for bone mineral density and fractures.
BCS1L (617) Skin and Connective Tissue Diseases 20679 17314340 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
TLR9 (54106) Aspergillosis 6871 18946062 Toll-like receptor 4 polymorphisms and aspergillosis in stem-cell transplantation.
MEIS1 (4211) Dyssomnias 9500 18216367 A genetic risk factor for periodic limb movements in sleep.
SLC9A3R1 (9368) Bone Diseases, Metabolic 10926 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
DBC1 (1620) Autoimmune Diseases 17715 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
GYS1 (2997) Cardiomyopathies 12101 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
MEIS1 (4211) Sleep Disorders 10396 18216367 A genetic risk factor for periodic limb movements in sleep.
RPL5 (6125) Demyelinating Diseases 12997 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
TLR3 (7098) Aspergillosis 6891 18946062 Toll-like receptor 4 polymorphisms and aspergillosis in stem-cell transplantation.
SLC9A3R1 (9368) Musculoskeletal Diseases 19617 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
RAG2 (5897) Granuloma 10852 18463379 An immunodeficiency disease with RAG mutations and granulomas.
RAG1 (5896) Granuloma 10852 18463379 An immunodeficiency disease with RAG mutations and granulomas.
MYL2 (4633) Cardiomyopathy, Dilated 6802 18403758 Shared genetic causes of cardiac hypertrophy in children and adults.
HLA-E (3133) Bone Diseases, Metabolic 10970 18445777 Multiple genetic loci for bone mineral density and fractures.
PKLR (5313) Malaria 10007 18420493 Pyruvate kinase deficiency and malaria.
CHI3L1 (1116) Bronchial Hyperreactivity 5114 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
GYS1 (2997) Carbohydrate Metabolism, Inborn Errors 9691 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
BDNF (627) Wilms Tumor 6203 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
SLC9A3R1 (9368) Bone Diseases 17202 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
TLR3 (7098) Retinal Degeneration 8338 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
C2orf25 (27249) Genetic Diseases, Inborn 19232 18385497 Gene identification for the cblD defect of vitamin B12 metabolism.
PKLR (5313) Protozoan Infections 14014 18420493 Pyruvate kinase deficiency and malaria.
HLA-E (3133) Wounds and Injuries 18858 18445777 Multiple genetic loci for bone mineral density and fractures.
C5AR1 (728) Musculoskeletal Diseases 19618 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
BDNF (627) Eye Abnormalities 6694 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
DBC1 (1620) Disease Attributes 20735 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
GYS1 (2997) Heart Diseases 18155 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
PKLR (5313) Parasitic Diseases 16610 18420493 Pyruvate kinase deficiency and malaria.
MYL3 (4634) Cardiomyopathy, Dilated 6805 18403758 Shared genetic causes of cardiac hypertrophy in children and adults.
TLR3 (7098) Uveal Diseases 10969 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
HLA-E (3133) Disorders of Environmental Origin 21180 18445777 Multiple genetic loci for bone mineral density and fractures.
SLCO1B1 (10599) Arterial Occlusive Diseases 13851 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
DBC1 (1620) Immune System Diseases 20799 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
SLC9A3R1 (9368) Urologic Diseases 18984 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
PCSK9 (255738) Stroke 9465 18354102 Polymorphisms associated with cholesterol and risk of cardiovascular events.
COL4A1 (1282) Intracranial Aneurysm 6537 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
BLK (640) Connective Tissue Diseases 16422 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
HMGCR (3156) Stroke 9502 18354102 Polymorphisms associated with cholesterol and risk of cardiovascular events.
BLK (640) Lupus Erythematosus, Systemic 11037 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
MTHFD1L (25902) Pathological Conditions, Signs and Symptoms 22837 17634449 Genomewide association analysis of coronary artery disease.
MTHFD1L (25902) Pathologic Processes 22482 17634449 Genomewide association analysis of coronary artery disease.
LIPC (3990) Stroke 9482 18354102 Polymorphisms associated with cholesterol and risk of cardiovascular events.
COL4A1 (1282) Neuromuscular Manifestations 11901 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
C5 (727) Musculoskeletal Diseases 19618 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
SLCO1B1 (10599) Nervous System Diseases 21519 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
C5AR1 (728) Joint Diseases 16354 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
SLC9A3R1 (9368) Signs and Symptoms 21634 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
RAG1 (5896) Agammaglobulinemia 5750 18463379 An immunodeficiency disease with RAG mutations and granulomas.
PRKAG2 (51422) Cardiomyopathy, Dilated 6830 18403758 Shared genetic causes of cardiac hypertrophy in children and adults.
RAG2 (5897) Agammaglobulinemia 5751 18463379 An immunodeficiency disease with RAG mutations and granulomas.
RPL5 (6125) Autoimmune Diseases 17718 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
TLR3 (7098) Retinal Diseases 12898 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
COL4A1 (1282) Urination Disorders 13514 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
COL4A1 (1282) Aneurysm 10185 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
SLCO1B1 (10599) Myocardial Infarction 12466 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
SLCO1B1 (10599) Heart Diseases 18157 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
TRAF1 (7185) Joint Diseases 16360 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
BDNF (627) Uveal Diseases 11017 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
C5AR1 (728) Rheumatic Diseases 14669 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
SLC9A3R1 (9368) Female Urogenital Diseases and Pregnancy Complications 20685 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
MTHFD1L (25902) Disease Susceptibility 15401 17634449 Genomewide association analysis of coronary artery disease.
BLK (640) Autoimmune Diseases 17715 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
TLR2 (7097) Aspergillosis 7109 18946062 Toll-like receptor 4 polymorphisms and aspergillosis in stem-cell transplantation.
MTHFD1L (25902) Genetic Predisposition to Disease 12817 17634449 Genomewide association analysis of coronary artery disease.
SLC9A3R1 (9368) Kidney Diseases 17917 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
TRAF1 (7185) Musculoskeletal Diseases 19621 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
HMGCR (3156) Cerebrovascular Disorders 15146 18354102 Polymorphisms associated with cholesterol and risk of cardiovascular events.
TRAF1 (7185) Rheumatic Diseases 14674 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
SLC9A3R1 (9368) Male Urogenital Diseases 20063 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
HLA-E (3133) Bone Diseases 17212 18445777 Multiple genetic loci for bone mineral density and fractures.
BDNF (627) Eye Diseases, Hereditary 8064 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
RPL5 (6125) Nervous System Diseases 21520 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
SLC9A3R1 (9368) Female Urogenital Diseases 20108 18784102 NHERF1 mutations and responsiveness of renal parathyroid hormone.
C5 (727) Joint Diseases 16351 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
TERT (7015) Pulmonary Fibrosis 8448 17392301 Telomerase mutations in families with idiopathic pulmonary fibrosis.
C5 (727) Rheumatic Diseases 14671 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
SLCO1B1 (10599) Myocardial Ischemia 14760 18650507 SLCO1B1 variants and statin-induced myopathya genomewide study.
C5AR1 (728) Arthritis, Rheumatoid 13115 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
TLR9 (54106) Mycoses 13318 18946062 Toll-like receptor 4 polymorphisms and aspergillosis in stem-cell transplantation.
HLA-E (3133) Musculoskeletal Diseases 19620 18445777 Multiple genetic loci for bone mineral density and fractures.
TRAF1 (7185) Arthritis, Rheumatoid 13121 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
BDNF (627) Kidney Neoplasms 10943 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
STAT4 (6775) Lupus Erythematosus, Systemic 11042 17804842 STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.
TLR3 (7098) Mycoses 13325 18946062 Toll-like receptor 4 polymorphisms and aspergillosis in stem-cell transplantation.
PCSK9 (255738) Cerebrovascular Disorders 15140 18354102 Polymorphisms associated with cholesterol and risk of cardiovascular events.
TRAF1 (7185) Arthritis 15450 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
BDNF (627) Neoplasms, Complex and Mixed 10542 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
IL2RA (3559) Multiple Sclerosis 10320 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
C5AR1 (728) Arthritis 15444 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
HMGCR (3156) Myocardial Infarction 12472 18354102 Polymorphisms associated with cholesterol and risk of cardiovascular events.
C5 (727) Arthritis, Rheumatoid 13118 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
BDNF (627) Urogenital Abnormalities 10194 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
GYS1 (2997) Congenital, Hereditary, and Neonatal Diseases and Abnormalities 20431 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
LEPR (3953) Hypogonadism 6686 17229951 Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
COL4A1 (1282) Muscular Diseases 15533 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
DBC1 (1620) Disease Susceptibility 15401 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
COL4A1 (1282) Disease 16271 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
TNFSF11 (8600) Fractures, Bone 11390 18445777 Multiple genetic loci for bone mineral density and fractures.
TRAF1 (7185) Connective Tissue Diseases 16435 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
DBC1 (1620) Genetic Predisposition to Disease 12817 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
TRAF1 (7185) Disease Attributes 20742 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
TLR3 (7098) Eye Diseases 18358 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
ITGAX (3687) Lupus Erythematosus, Systemic 11050 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
GYS1 (2997) Metabolism, Inborn Errors 15362 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
PKLR (5313) Disease Attributes 20737 18420493 Pyruvate kinase deficiency and malaria.
C5 (727) Arthritis 15443 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
CHI3L1 (1116) Asthma 12524 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
COL4A1 (1282) Syndrome 15561 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
MVK (4598) Animal Diseases 20002 17978300 Mevalonate kinase deficiency and autoinflammation.
CHI3L1 (1116) Bronchial Diseases 14677 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
CHI3L1 (1116) Lung Diseases, Obstructive 14239 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
BDNF (627) Urologic Neoplasms 12613 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
ITGAX (3687) Connective Tissue Diseases 16423 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
CHI3L1 (1116) Respiratory Hypersensitivity 13144 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
COL4A1 (1282) Abnormalities, Multiple 13198 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
SDHB (6390) Gastrointestinal Diseases 19329 17804857 Familial gastrointestinal stromal tumors and germ-line mutations.
RPL5 (6125) Disease Attributes 20738 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
ITGAM (3684) Lupus Erythematosus, Systemic 11059 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
RPL5 (6125) Immune System Diseases 20799 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
NPPA (4878) Atrial Fibrillation 6815 18614783 Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
CHI3L1 (1116) Hypersensitivity, Immediate 15139 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
C5AR1 (728) Connective Tissue Diseases 16425 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
C5 (727) Connective Tissue Diseases 16424 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
RPL5 (6125) Genetic Predisposition to Disease 12841 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
TNFSF11 (8600) Disorders of Environmental Origin 21177 18445777 Multiple genetic loci for bone mineral density and fractures.
TNFSF11 (8600) Wounds and Injuries 18844 18445777 Multiple genetic loci for bone mineral density and fractures.
BDNF (627) Neoplastic Syndromes, Hereditary 10033 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
RPL5 (6125) Disease Susceptibility 15416 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
IL2RA (3559) Demyelinating Autoimmune Diseases, CNS 11442 17660530 Risk alleles for multiple sclerosis identified by a genomewide study.
GYS1 (2997) Genetic Diseases, Inborn 19233 17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
LAMP2 (3920) Disease Attributes 20740 18403758 Shared genetic causes of cardiac hypertrophy in children and adults.
LAMP2 (3920) Genetic Predisposition to Disease 12829 18403758 Shared genetic causes of cardiac hypertrophy in children and adults.
RAG2 (5897) Blood Protein Disorders 12139 18463379 An immunodeficiency disease with RAG mutations and granulomas.
JAK2 (3717) Abortion, Spontaneous 10449 17989398 JAK2 V617F mutation in unexplained loss of first pregnancy.
RAG2 (5897) Skin Diseases 20349 18463379 An immunodeficiency disease with RAG mutations and granulomas.
TRAF1 (7185) Autoimmune Diseases 17725 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
RAG1 (5896) Blood Protein Disorders 12138 18463379 An immunodeficiency disease with RAG mutations and granulomas.
SDHB (6390) Digestive System Diseases 20862 17804857 Familial gastrointestinal stromal tumors and germ-line mutations.
MEIS1 (4211) Genetic Predisposition to Disease 12820 18216367 A genetic risk factor for periodic limb movements in sleep.
CHI3L1 (1116) Hypersensitivity 17150 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
COL4A1 (1282) Congenital Abnormalities 18138 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
LAMP2 (3920) Disease Susceptibility 15409 18403758 Shared genetic causes of cardiac hypertrophy in children and adults.
TRAF1 (7185) Genetic Predisposition to Disease 12839 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
COL4A1 (1282) Neurologic Manifestations 19674 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
PKLR (5313) Genetic Predisposition to Disease 12836 18420493 Pyruvate kinase deficiency and malaria.
MEIS1 (4211) Disease Susceptibility 15403 18216367 A genetic risk factor for periodic limb movements in sleep.
ITGAM (3684) Connective Tissue Diseases 16426 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
C5 (727) Skin and Connective Tissue Diseases 20679 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
PKLR (5313) Disease Susceptibility 15417 18420493 Pyruvate kinase deficiency and malaria.
CDH13 (1012) Neoplasm Recurrence, Local 10059 18337602 DNA methylation markers and early recurrence in stage I lung cancer.
SDHB (6390) Gastrointestinal Neoplasms 15359 17804857 Familial gastrointestinal stromal tumors and germ-line mutations.
C5AR1 (728) Autoimmune Diseases 17717 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
TRAF1 (7185) Disease Susceptibility 15420 17804836 TRAF1-C5 as a risk locus for rheumatoid arthritisa genomewide study.
NPPA (4878) Arrhythmias, Cardiac 11875 18614783 Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
TLR3 (7098) Neovascularization, Pathologic 9287 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
ITGAX (3687) Autoimmune Diseases 17715 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
BDNF (627) Urologic Diseases 18990 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
TLR3 (7098) Metaplasia 10517 18753640 Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.
CHI3L1 (1116) Genetic Predisposition to Disease 12823 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
ITGAX (3687) Skin and Connective Tissue Diseases 20679 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
BDNF (627) Kidney Diseases 17930 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
COL4A1 (1282) Signs and Symptoms 21634 18160688 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
RAG1 (5896) Lymphoma, B-Cell 9168 18463379 An immunodeficiency disease with RAG mutations and granulomas.
SDHB (6390) Digestive System Neoplasms 17187 17804857 Familial gastrointestinal stromal tumors and germ-line mutations.
CHI3L1 (1116) Disease Susceptibility 15407 18403759 Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
LAMP2 (3920) Pathologic Processes 22482 18403758 Shared genetic causes of cardiac hypertrophy in children and adults.
BDNF (627) Male Urogenital Diseases 20068 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
LEPR (3953) Metabolism, Inborn Errors 15369 17229951 Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
MVK (4598) Disease Models, Animal 19156 17978300 Mevalonate kinase deficiency and autoinflammation.
BDNF (627) Female Urogenital Diseases 20111 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
ITGAM (3684) Skin and Connective Tissue Diseases 20679 18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
BDNF (627) Female Urogenital Diseases and Pregnancy Complications 20686 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
BDNF (627) Urogenital Neoplasms 16367 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
LEPR (3953) Congenital, Hereditary, and Neonatal Diseases and Abnormalities 20430 17229951 Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
RASSF1 (11186) Neoplasm Recurrence, Local 10065 18337602 DNA methylation markers and early recurrence in stage I lung cancer.
LEPR (3953) Genetic Diseases, Inborn 19233 17229951 Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
BDNF (627) Neoplasms by Site 20626 18753648 Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
Unless otherwise stated, the content of this page is licensed under Creative Commons Attribution-Share Alike 2.5 License.