Free for academic non-profit institutions. Other users need a Commercial license

Genes Associated with Diseases


Genetic diseases are caused by abnormalities in genes or chromosomes. Many genetic diseases are conditions present from before birth. Most genetic disorders are quite rare. A genetic disease may or may not be a heritable disorder. Some genetic diseases are passed down from the parents' genes, but others are frequently or always caused by new mutations or changes to the DNA. In other instances, the same disease, for example, some forms of cancer, may stem from an inherited genetic condition in some people, from new mutations in other people, and from non-genetic causes in still other people. There are more than 6,000 known single-gene (or monogenic) disorders, which occur in about 1 out of every 200 births. As their name suggests, these diseases are caused by a mutation in one gene. By contrast, polygenic disorders are caused by several genes, frequently in combination with environmental factors. Examples of genetic phenotypes include Alzheimer's disease, breast cancer, leukemia, Down syndrome, heart defects, and deafness.
For comprehensive information about human diseases, visit MalaCards, our integrated database of human maladies and their annotations.

Medium-size gene-disease network , including 4 genes and 21 diseases, based on MalaCards disease database connectivity
Medium-size gene-disease network

9578 "disease genes" are currently present in the GeneCards database

Showing 1103 disease genes

The genes listed here cause, predispose or protect from diseases

Gene Symbol Gene Name Locus MalaCards Disorders (sorted by relevance)
3.8-1.2 HLA Complex Group 26 (Non-Protein Coding) Pseudogene 6p21.3
A1BG Alpha-1-B Glycoprotein 19q13.4
A1CF APOBEC1 Complementation Factor 10q11.23
A2M Alpha-2-Macroglobulin 12p13.31
A2ML1 Alpha-2-Macroglobulin-Like 1 12p13.31
A2MP1 Alpha-2-Macroglobulin Pseudogene 1 12p13.31
A4GALT Alpha 1,4-Galactosyltransferase 22q13.2
AA1 Alopecia Areata 1 18p11.3-p11.2
AA2 Alopecia Areata 2 16q11-q22
AAA1 Aortic Aneurysm, Familial Abdominal 1 19q13
AAA2 Aortic Aneurysm, Familial Abdominal 2 4q31
AAA3 Aneurysm, Familial Abdominal 3 9p21
AAA4 Aortic Aneurysm, Familial Abdominal, 4 12q13.3
AAAS Achalasia, Adrenocortical Insufficiency, Alacrimia 12q13
AACS Acetoacetyl-CoA Synthetase 12q24.31
AADAC Arylacetamide Deacetylase 3q25.1
AAGAB Alpha- And Gamma-Adaptin Binding Protein 15q23
AAMP Angio-Associated, Migratory Cell Protein 2q35
AANAT Aralkylamine N-Acetyltransferase 17q25.1
AARS Alanyl-TRNA Synthetase 16q22
AARS2 Alanyl-TRNA Synthetase 2, Mitochondrial 6p21.1
AASS Aminoadipate-Semialdehyde Synthase 7q31.3
AAT1 Aortic Aneurysm, Familial Thoracic 1 11q23.3-q24
AAT2 Aortic Aneurysm, Familial Thoracic 2 5q13-q14
AATK Apoptosis-Associated Tyrosine Kinase 17q25.3
AAVS1 Adeno-Associated Virus Integration Site 1 19q13|19q13-qter
ABAT 4-Aminobutyrate Aminotransferase 16p13.2
ABCA1 ATP-Binding Cassette, Sub-Family A (ABC1), Member 1 9q31.1
ABCA12 ATP-Binding Cassette, Sub-Family A (ABC1), Member 12 2q34
ABCA2 ATP-Binding Cassette, Sub-Family A (ABC1), Member 2 9q34
ABCA3 ATP-Binding Cassette, Sub-Family A (ABC1), Member 3 16p13.3
ABCA4 ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 1p22
ABCA5 ATP-Binding Cassette, Sub-Family A (ABC1), Member 5 17q24.3
ABCB1 ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 1 7q21.12
ABCB11 ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 11 2q24
ABCB4 ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 4 7q21.1
ABCB6 ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 (Langereis Blood Group) 2q36
ABCB7 ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 7 Xq13.3
ABCC1 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 1 16p13.1
ABCC11 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 11 16q12.1
ABCC12 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 12 16q12.1
ABCC2 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 2 10q24
ABCC3 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 3 17q22
ABCC4 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 4 13q32
ABCC5 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 5 3q27
ABCC6 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6 16p13.1
ABCC8 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8 11p15.1
ABCC9 ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 9 12p12.1
ABCD1 ATP-Binding Cassette, Sub-Family D (ALD), Member 1 Xq28
ABCD2 ATP-Binding Cassette, Sub-Family D (ALD), Member 2 12q12
ABCD3 ATP-Binding Cassette, Sub-Family D (ALD), Member 3 1p21.3
ABCD4 ATP-Binding Cassette, Sub-Family D (ALD), Member 4 14q24.3
ABCE1 ATP-Binding Cassette, Sub-Family E (OABP), Member 1 4q31
ABCF2 ATP-Binding Cassette, Sub-Family F (GCN20), Member 2 7q36
ABCG1 ATP-Binding Cassette, Sub-Family G (WHITE), Member 1 21q22.3
ABCG2 ATP-Binding Cassette, Sub-Family G (WHITE), Member 2 (Junior Blood Group) 4q22
ABCG5 ATP-Binding Cassette, Sub-Family G (WHITE), Member 5 2p21
ABCG8 ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 2p21
ABHD11 Abhydrolase Domain Containing 11 7q11.23
ABHD12 Abhydrolase Domain Containing 12 20p11.21
ABHD5 Abhydrolase Domain Containing 5 3p21
ABI1 Abl-Interactor 1 10p11.2
ABL1 ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase 9q34.1
ABL2 ABL Proto-Oncogene 2, Non-Receptor Tyrosine Kinase 1q25.2
ABO ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha 1-3-Galactosyltransferase) 9q34.2
ABR Active BCR-Related 17p13.3
ABRA Actin-Binding Rho Activating Protein 8q23.1
ABT1 Activator Of Basal Transcription 1 6p22.2
ACAA1 Acetyl-CoA Acyltransferase 1 3p22.2
ACAA2 Acetyl-CoA Acyltransferase 2 18q21.1
ACACA Acetyl-CoA Carboxylase Alpha 17q21
ACACB Acetyl-CoA Carboxylase Beta 12q24.11
ACAD11 Acyl-CoA Dehydrogenase Family, Member 11 3q22.1
ACAD8 Acyl-CoA Dehydrogenase Family, Member 8 11q25
ACAD9 Acyl-CoA Dehydrogenase Family, Member 9 3q21.3
ACADL Acyl-CoA Dehydrogenase, Long Chain 2q34
ACADM Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain 1p31
ACADS Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain 12q24.31
ACADSB Acyl-CoA Dehydrogenase, Short/Branched Chain 10q26.13
ACADVL Acyl-CoA Dehydrogenase, Very Long Chain 17p13.1
ACAN Aggrecan 15q26.1
ACAT1 Acetyl-CoA Acetyltransferase 1 11q22.3
ACAT2 Acetyl-CoA Acetyltransferase 2 6q25.3
ACBD5 Acyl-CoA Binding Domain Containing 5 10p12.1
ACD Adrenocortical Dysplasia Homolog (Mouse) 16q22.1
ACE Angiotensin I Converting Enzyme 17q23.3
ACE2 Angiotensin I Converting Enzyme 2 Xp22
ACER1 Alkaline Ceramidase 1 19p13.3
ACER2 Alkaline Ceramidase 2 9p22.1
ACER3 Alkaline Ceramidase 3 11q13.5
ACF Asymmetric Crying Facies (Cayler Cardiofacial Syndrome) 22q11
ACHE Acetylcholinesterase (Yt Blood Group) 7q22
ACIN1 Apoptotic Chromatin Condensation Inducer 1 14q11.2
ACKR4 Atypical Chemokine Receptor 4 3q22
ACLS Acrocallosal Syndrome 12p13.3-p11.2
ACO1 Aconitase 1, Soluble 9p21.1
ACO2 Aconitase 2, Mitochondrial 22q13.2
ACOT11 Acyl-CoA Thioesterase 11 1p32.3
ACOT13 Acyl-CoA Thioesterase 13 6p22.3
ACOT7 Acyl-CoA Thioesterase 7 1p36
ACOX1 Acyl-CoA Oxidase 1, Palmitoyl 17q25.1
ACOX3 Acyl-CoA Oxidase 3, Pristanoyl 4p15.3
ACP1 Acid Phosphatase 1, Soluble 2p25
ACP2 Acid Phosphatase 2, Lysosomal 11p11.2|11p12-p11
ACP5 Acid Phosphatase 5, Tartrate Resistant 19p13.2
ACP6 Acid Phosphatase 6, Lysophosphatidic 1q21
ACPP Acid Phosphatase, Prostate 3q22.1
ACPT Acid Phosphatase, Testicular 19q13.4
ACRBP Acrosin Binding Protein 12p13.31
ACRC Acidic Repeat Containing Xq13.1
ACRPS Acropectoral Syndrome 7q36
ACRPV Acropectorovertebral Dysplasia (F Syndrome) 2q36
ACRV1 Acrosomal Vesicle Protein 1 11q24.2
ACSF3 Acyl-CoA Synthetase Family Member 3 16q24.3
ACSL3 Acyl-CoA Synthetase Long-Chain Family Member 3 2q34-q35
ACSL4 Acyl-CoA Synthetase Long-Chain Family Member 4 Xq22.3-q23
ACSL5 Acyl-CoA Synthetase Long-Chain Family Member 5 10q25.2
ACSL6 Acyl-CoA Synthetase Long-Chain Family Member 6 5q31.1
ACSM3 Acyl-CoA Synthetase Medium-Chain Family Member 3 16p13.11
ACSS3 Acyl-CoA Synthetase Short-Chain Family Member 3 12q21.31
ACTA1 Actin, Alpha 1, Skeletal Muscle 1q42.13
ACTA2 Actin, Alpha 2, Smooth Muscle, Aorta 10q23.3
ACTB Actin, Beta 7p22
ACTC1 Actin, Alpha, Cardiac Muscle 1 15q14
ACTG1 Actin Gamma 1 17q25
ACTG2 Actin, Gamma 2, Smooth Muscle, Enteric 2p13.1
ACTL7A Actin-Like 7A 9q31
ACTL7B Actin-Like 7B 9q31
ACTL9 Actin-Like 9 19p13.2
ACTN1 Actinin, Alpha 1 14q24|14q22-q24
ACTN2 Actinin, Alpha 2 1q42-q43
ACTN3 Actinin, Alpha 3 (Gene/Pseudogene) 11q13.1
ACTN4 Actinin, Alpha 4 19q13
ACTR2 ARP2 Actin-Related Protein 2 Homolog (Yeast) 2p14
ACTR3BP6 ACTR3B Pseudogene 6 22q11.1
ACTR3C ARP3 Actin-Related Protein 3 Homolog C (Yeast) 7q36.1
ACVR1 Activin A Receptor, Type I 2q23-q24
ACVR1B Activin A Receptor, Type IB 12q13
ACVR1C Activin A Receptor, Type IC 2q24.1
ACVR2A Activin A Receptor, Type IIA 2q22.3
ACVR2B Activin A Receptor, Type IIB 3p22
ACVRL1 Activin A Receptor Type II-Like 1 12q13.13
ACY1 Aminoacylase 1 3p21.1
ACY3 Aminoacylase 3 11q13.2
AD10 Alzheimer Disease-10 7q36
AD11 Alzheimer Disease-11 9p22.1
AD12 Alzheimer Disease 12 8p12-q22
AD13 Alzheimer Disease-13 1q21
AD14 Alzheimer Disease 14 1q25
AD15 Alzheimer Disease-15 3q22-q24
AD16 Alzheimer Disease 16 Xq21.3
AD17 Alzheimer Disease 17 6p21.2
AD5 Alzheimer Disease 5 12p11.23-q13.12
AD6 Alzheimer Disease 6 10q
AD7 Alzheimer Disease 7 10p13
AD8 Alzheimer Disease 8 20p
AD9 Alzheimer Disease 9 19p13.2
ADA Adenosine Deaminase 20q13.12
ADAL Adenosine Deaminase-Like 15q15.3
ADAM10 ADAM Metallopeptidase Domain 10 15q22
ADAM11 ADAM Metallopeptidase Domain 11 17q21.3
ADAM17 ADAM Metallopeptidase Domain 17 2p25
ADAM21P1 ADAM Metallopeptidase Domain 21 Pseudogene 1 14q24.2
ADAM22 ADAM Metallopeptidase Domain 22 7q21
ADAM33 ADAM Metallopeptidase Domain 33 20p13
ADAM3A ADAM Metallopeptidase Domain 3A (Pseudogene) 8p11.23
ADAM7 ADAM Metallopeptidase Domain 7 8p21.2
ADAM8 ADAM Metallopeptidase Domain 8 10q26.3
ADAM9 ADAM Metallopeptidase Domain 9 8p11.22
ADAMTS1 ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 1 21q21.2
ADAMTS10 ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 10 19p13.2
ADAMTS13 ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 13 9q34
ADAMTS17 ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 17 15q24
ADAMTS18 ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 18 16q23
ADAMTS2 ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 2 5qter
ADAMTS20 ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 20 12q12
ADAMTSL1 ADAMTS-Like 1 9p21.3
ADAMTSL2 ADAMTS-Like 2 9q34.2
ADAMTSL3 ADAMTS-Like 3 15q25.2
ADAMTSL4 ADAMTS-Like 4 1q21.3
ADAP2 ArfGAP With Dual PH Domains 2 17q11.2
ADAR Adenosine Deaminase, RNA-Specific 1q21.3
ADAT3 Adenosine Deaminase, TRNA-Specific 3 19p13.3
ADCK2 AarF Domain Containing Kinase 2 7q34
ADCK3 AarF Domain Containing Kinase 3 1q42.13
ADCK4 AarF Domain Containing Kinase 4 19q13.2
ADCY1 Adenylate Cyclase 1 (Brain) 7p12.3
ADCY10 Adenylate Cyclase 10 (Soluble) 1q24
ADCY2 Adenylate Cyclase 2 (Brain) 5p15.3
ADCY3 Adenylate Cyclase 3 2p23.3
ADCY4 Adenylate Cyclase 4 14q12
ADCY5 Adenylate Cyclase 5 3q21.1
ADCY6 Adenylate Cyclase 6 12q12-q13
ADCY7 Adenylate Cyclase 7 16q12.1
ADCY8 Adenylate Cyclase 8 (Brain) 8q24
ADCY9 Adenylate Cyclase 9 16p13.3
ADCYAP1 Adenylate Cyclase Activating Polypeptide 1 (Pituitary) 18p11
ADCYAP1R1 Adenylate Cyclase Activating Polypeptide 1 (Pituitary) Receptor Type I 7p14
ADD1 Adducin 1 (Alpha) 4p16.3
ADD2 Adducin 2 (Beta) 2p13.3
ADD3 Adducin 3 (Gamma) 10q25.2
ADFN Albinism-Deafness Syndrome Xq25-q26|Xq26.3-q27.1
ADH1A Alcohol Dehydrogenase 1A (Class I), Alpha Polypeptide 4q23
ADH1B Alcohol Dehydrogenase 1B (Class I), Beta Polypeptide 4q23
ADH1C Alcohol Dehydrogenase 1C (Class I), Gamma Polypeptide 4q23
ADH4 Alcohol Dehydrogenase 4 (Class II), Pi Polypeptide 4q22
ADH5 Alcohol Dehydrogenase 5 (Class III), Chi Polypeptide 4q23
ADH5P4 Alcohol Dehydrogenase 5 (Class III), Chi Polypeptide, Pseudogene 4 6q12
ADH6 Alcohol Dehydrogenase 6 (Class V) 4q23
ADH7 Alcohol Dehydrogenase 7 (Class IV), Mu Or Sigma Polypeptide 4q23-q24
ADHD1 Attention Deficit-Hyperactivity Disorder, Susceptibility To, 1 16p13
ADHD2 Attention Deficit-Hyperactivity Disorder, Susceptibility To, 2 17p11
ADHD3 Attention Deficit-Hyperactivity Disorder, Susceptibility To, 2 6q12
ADHD4 Attention Deficit-Hyperactivity Disorder, Susceptibility To, 4 5p13
ADHD5 Attention Deficit-Hyperactivity Disorder, Susceptibility To, 5 2q21.1
ADHD6 Attention Deficit-Hyperactivity Disorder, Susceptibility To, 6 13q12.11
ADIPOQ Adiponectin, C1Q And Collagen Domain Containing 3q27
ADIPOR1 Adiponectin Receptor 1 1q32.1
ADIPOR2 Adiponectin Receptor 2 12p13.31
ADIPQTL4 Adiponectin, Serum Level Of, QTL4 11q23-q24
ADIRF Adipogenesis Regulatory Factor 10q23.2
ADK Adenosine Kinase 10q22|10q11-q24
ADM Adrenomedullin 11p15.4
ADNP Activity-Dependent Neuroprotector Homeobox 20q13.13
ADO 2-Aminoethanethiol (Cysteamine) Dioxygenase 10q21.3
ADORA1 Adenosine A1 Receptor 1q32.1
ADORA2A Adenosine A2a Receptor 22q11.23
ADORA2B Adenosine A2b Receptor 17p12
ADORA3 Adenosine A3 Receptor 1p13.2
ADPGK ADP-Dependent Glucokinase 15q24.1
ADPRH ADP-Ribosylarginine Hydrolase 3q13.31-q13.33
ADRA1A Adrenoceptor Alpha 1A 8p21.2
ADRA1B Adrenoceptor Alpha 1B 5q33.3
ADRA1D Adrenoceptor Alpha 1D 20p13
ADRA2A Adrenoceptor Alpha 2A 10q25.2
ADRA2B Adrenoceptor Alpha 2B 2q11.1
ADRA2C Adrenoceptor Alpha 2C 4p16
ADRB1 Adrenoceptor Beta 1 10q25.3
ADRB2 Adrenoceptor Beta 2, Surface 5q31-q32
ADRB3 Adrenoceptor Beta 3 8p12
ADRBK2 Adrenergic, Beta, Receptor Kinase 2 22q12.1
ADSL Adenylosuccinate Lyase 22q13.2
ADSS Adenylosuccinate Synthase 1q44
AEBP1 AE Binding Protein 1 7p13
AES Amino-Terminal Enhancer Of Split 19p13.3
AFA1 Alopecia, Androgenetic 3q26
AFAP1L1 Actin Filament Associated Protein 1-Like 1 5q32
AFD1 Acrofacial Dysostosis 1, Nager Type 9q32
AFF1 AF4/FMR2 Family, Member 1 4q21
AFF2 AF4/FMR2 Family, Member 2 Xq28
AFF3 AF4/FMR2 Family, Member 3 2q11.2-q12
AFF4 AF4/FMR2 Family, Member 4 5q31
AFG3L2 AFG3-Like AAA ATPase 2 18p11
AFM Afamin 4q13.3
AFP Alpha-Fetoprotein 4q13.3
AGA Aspartylglucosaminidase 4q34.3
AGA2 Alopecia, Androgenetic, 2 Xq11-q12
AGA3 Alopecia, Androgenetic, 3 20p11.22
AGAP2 ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 2 12q14.1
AGBL1 ATP/GTP Binding Protein-Like 1 15q25.3
AGER Advanced Glycosylation End Product-Specific Receptor 6p21.3
AGFG1 ArfGAP With FG Repeats 1 2q36.3
AGFG2 ArfGAP With FG Repeats 2 7q22.1
AGGF1 Angiogenic Factor With G Patch And FHA Domains 1 5q13.3
AGK Acylglycerol Kinase 7q34
AGL Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 1p21
AGPAT2 1-Acylglycerol-3-Phosphate O-Acyltransferase 2 9q34.3
AGPAT9 1-Acylglycerol-3-Phosphate O-Acyltransferase 9 4q21.23
AGPS Alkylglycerone Phosphate Synthase 2q31.2
AGR3 Anterior Gradient 3 7p21.1
AGRN Agrin 1p36.33
AGRP Agouti Related Neuropeptide 16q22
AGT Angiotensinogen (Serpin Peptidase Inhibitor, Clade A, Member 8) 1q42.2
AGTR1 Angiotensin II Receptor, Type 1 3q24
AGTR2 Angiotensin II Receptor, Type 2 Xq22-q23
AGXT Alanine-Glyoxylate Aminotransferase 2q37.3
AGXT2 Alanine--Glyoxylate Aminotransferase 2 5p13
AHCY Adenosylhomocysteinase 20q11.22
AHDC1 AT Hook, DNA Binding Motif, Containing 1 1p36.13
AHI1 Abelson Helper Integration Site 1 6q23.3
AHNAK2 AHNAK Nucleoprotein 2 14q32.33
AHR Aryl Hydrocarbon Receptor 7p15
AHSA1 AHA1, Activator Of Heat Shock 90kDa Protein ATPase Homolog 1 (Yeast) 14q24
AHSG Alpha-2-HS-Glycoprotein 3q27
AHSP Alpha Hemoglobin Stabilizing Protein 16p11.2
AIC Aicardi Syndrome Xp22
AICDA Activation-Induced Cytidine Deaminase 12p13
AIF1 Allograft Inflammatory Factor 1 6p21.3
AIFM1 Apoptosis-Inducing Factor, Mitochondrion-Associated, 1 Xq26.1
AIG1 Androgen-Induced 1 6q24.2
AIH3 Amelogenesis Imperfecta 3, Hypomaturation Or Hypoplastic Type Xq22-q28
AIM1 Absent In Melanoma 1 6q21
AIM2 Absent In Melanoma 2 1q22
AIMP1 Aminoacyl TRNA Synthetase Complex-Interacting Multifunctional Protein 1 4q24
AIMP1P1 Aminoacyl TRNA Synthetase Complex-Interacting Multifunctional Protein 1 Pseudogene 1 20p12.1
AIMP2 Aminoacyl TRNA Synthetase Complex-Interacting Multifunctional Protein 2 7p22
AIP Aryl Hydrocarbon Receptor Interacting Protein 11q13.3
AIPL1 Aryl Hydrocarbon Receptor Interacting Protein-Like 1 17p13.1
AIR Acute Insulin Response (2) 1p31
AIRE Autoimmune Regulator 21q22.3
AIS1 Autoimmune Susceptibility 1 1p31
AK1 Adenylate Kinase 1 9q34.1
AK2 Adenylate Kinase 2 1p34
AK5 Adenylate Kinase 5 1p31
AK7 Adenylate Kinase 7 14q32.2
AKAP10 A Kinase (PRKA) Anchor Protein 10 17p11.1
AKAP13 A Kinase (PRKA) Anchor Protein 13 15q24-q25
AKAP17A A Kinase (PRKA) Anchor Protein 17A Xp22.33 and Yp11.32
AKAP5 A Kinase (PRKA) Anchor Protein 5 14q23.3
AKAP9 A Kinase (PRKA) Anchor Protein 9 7q21-q22
AKIP1 A Kinase (PRKA) Interacting Protein 1 11p15.3
AKR1A1 Aldo-Keto Reductase Family 1, Member A1 (Aldehyde Reductase) 1p33-p32
AKR1B1 Aldo-Keto Reductase Family 1, Member B1 (Aldose Reductase) 7q35
AKR1B10 Aldo-Keto Reductase Family 1, Member B10 (Aldose Reductase) 7q33
AKR1B1P2 Aldo-Keto Reductase Family 1, Member B1 Pseudogene 2 3p12
AKR1C1 Aldo-Keto Reductase Family 1, Member C1 10p15-p14
AKR1C2 Aldo-Keto Reductase Family 1, Member C2 10p15-p14
AKR1C3 Aldo-Keto Reductase Family 1, Member C3 10p15-p14
AKR1C4 Aldo-Keto Reductase Family 1, Member C4 10p15.1
AKR1D1 Aldo-Keto Reductase Family 1, Member D1 7q32-q33
AKR7A2 Aldo-Keto Reductase Family 7, Member A2 (Aflatoxin Aldehyde Reductase) 1p36.13
AKR7A3 Aldo-Keto Reductase Family 7, Member A3 (Aflatoxin Aldehyde Reductase) 1p36.13
AKT1 V-Akt Murine Thymoma Viral Oncogene Homolog 1 14q32.32
AKT2 V-Akt Murine Thymoma Viral Oncogene Homolog 2 19q13.1-q13.2
AKT3 V-Akt Murine Thymoma Viral Oncogene Homolog 3 1q44
AKTIP AKT Interacting Protein 16q12.2
ALAD Aminolevulinate Dehydratase 9q33.1
ALAS1 5'-Aminolevulinate Synthase 1 3p21.1
ALAS2 5'-Aminolevulinate Synthase 2 Xp11.21
ALB Albumin 4q13.3
ALDH16A1 Aldehyde Dehydrogenase 16 Family, Member A1 19q13.33
ALDH18A1 Aldehyde Dehydrogenase 18 Family, Member A1 10q24.3
ALDH1A1 Aldehyde Dehydrogenase 1 Family, Member A1 9q21.13
ALDH1A3 Aldehyde Dehydrogenase 1 Family, Member A3 15q26.3
ALDH1B1 Aldehyde Dehydrogenase 1 Family, Member B1 9p11.1
ALDH1L1 Aldehyde Dehydrogenase 1 Family, Member L1 3q21.3
ALDH2 Aldehyde Dehydrogenase 2 Family (Mitochondrial) 12q24.2
ALDH3A1 Aldehyde Dehydrogenase 3 Family, Member A1 17p11.2
ALDH3A2 Aldehyde Dehydrogenase 3 Family, Member A2 17p11.2
ALDH3B1 Aldehyde Dehydrogenase 3 Family, Member B1 11q13
ALDH4A1 Aldehyde Dehydrogenase 4 Family, Member A1 1p36
ALDH5A1 Aldehyde Dehydrogenase 5 Family, Member A1 6p22
ALDH6A1 Aldehyde Dehydrogenase 6 Family, Member A1 14q24.3
ALDH7A1 Aldehyde Dehydrogenase 7 Family, Member A1 5q31
ALDH9A1 Aldehyde Dehydrogenase 9 Family, Member A1 1q23.1
ALDOA Aldolase A, Fructose-Bisphosphate 16p11.2
ALDOB Aldolase B, Fructose-Bisphosphate 9q21.3-q22.2
ALDOC Aldolase C, Fructose-Bisphosphate 17cen-q12
ALG1 ALG1, Chitobiosyldiphosphodolichol Beta-Mannosyltransferase 16p13.3
ALG10 ALG10, Alpha-1,2-Glucosyltransferase 12p11.1
ALG10B ALG10B, Alpha-1,2-Glucosyltransferase 12q12
ALG11 ALG11, Alpha-1,2-Mannosyltransferase 13q14.2
ALG12 ALG12, Alpha-1,6-Mannosyltransferase 22q13.33
ALG13 ALG13, UDP-N-Acetylglucosaminyltransferase Subunit Xq23
ALG14 ALG14, UDP-N-Acetylglucosaminyltransferase Subunit 1p21.3
ALG2 ALG2, Alpha-1,3/1,6-Mannosyltransferase 9q22.33
ALG3 ALG3, Alpha-1,3- Mannosyltransferase 3q27.1
ALG3P1 ALG3, Alpha-1,3- Mannosyltransferase Pseudogene 1 5p15.32
ALG6 ALG6, Alpha-1,3-Glucosyltransferase 1p31.3
ALG8 ALG8, Alpha-1,3-Glucosyltransferase 11q14.1
ALG9 ALG9, Alpha-1,2-Mannosyltransferase 11q23
ALK Anaplastic Lymphoma Receptor Tyrosine Kinase 2p23
ALKBH3 AlkB, Alkylation Repair Homolog 3 (E. Coli) 11p11.2
ALL2 Leukemia, Acute Lymphoblastic, Susceptibility To, 2 7p12.2
ALLC Allantoicase 2q35
ALMS1 Alstrom Syndrome Protein 1 2p13
ALMS1P Alstrom Syndrome 1 Pseudogene 2p13.1
ALOX12 Arachidonate 12-Lipoxygenase 17p13.1
ALOX12B Arachidonate 12-Lipoxygenase, 12R Type 17p13.1
ALOX15 Arachidonate 15-Lipoxygenase 17p13.3
ALOX15B Arachidonate 15-Lipoxygenase, Type B 17p13.1
ALOX5 Arachidonate 5-Lipoxygenase 10q11.2
ALOX5AP Arachidonate 5-Lipoxygenase-Activating Protein 13q12
ALOXE3 Arachidonate Lipoxygenase 3 17p13.1
ALPI Alkaline Phosphatase, Intestinal 2q37.1
ALPL Alkaline Phosphatase, Liver/Bone/Kidney 1p36.12
ALPP Alkaline Phosphatase, Placental 2q37
ALPPL2 Alkaline Phosphatase, Placental-Like 2 2q37
ALS2 Amyotrophic Lateral Sclerosis 2 (Juvenile) 2q33.1
ALS2CL ALS2 C-Terminal Like 3p21.31
ALS3 Amyotrophic Lateral Sclerosis 3 (Autosomal Dominant) 18q21
ALS7 Amyotrophic Lateral Sclerosis 7 20p13
ALX1 ALX Homeobox 1 12q21.31
ALX3 ALX Homeobox 3 1p13.3
ALX4 ALX Homeobox 4 11p11.2
AMACR Alpha-Methylacyl-CoA Racemase 5p13
AMBN Ameloblastin (Enamel Matrix Protein) 4q21
AMBP Alpha-1-Microglobulin/Bikunin Precursor 9q32-q33
AMD1 Adenosylmethionine Decarboxylase 1 6q21
AMELX Amelogenin, X-Linked Xp22.31-p22.1
AMELY Amelogenin, Y-Linked Yp11.2
AMER1 APC Membrane Recruitment Protein 1 Xq11.2
AMER2 APC Membrane Recruitment Protein 2 13q12.13
AMFR Autocrine Motility Factor Receptor, E3 Ubiquitin Protein Ligase 16q21
AMH Anti-Mullerian Hormone 19p13.3
AMHR2 Anti-Mullerian Hormone Receptor, Type II 12q13
AMIGO2 Adhesion Molecule With Ig-Like Domain 2 12q13.11
AMIGO3 Adhesion Molecule With Ig-Like Domain 3 3p21
AMMEC Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Xq22.3
AMMECR1 Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1 Xq22.3
AMN Amnion Associated Transmembrane Protein 14q32.3
AMPD1 Adenosine Monophosphate Deaminase 1 1p13
AMPD2 Adenosine Monophosphate Deaminase 2 1p13.3
AMPD3 Adenosine Monophosphate Deaminase 3 11p15
AMPH Amphiphysin 7p14-p13
AMT Aminomethyltransferase 3p21.31
AMTN Amelotin 4q13.3
AMY2A Amylase, Alpha 2A (Pancreatic) 1p21
ANAPC11 Anaphase Promoting Complex Subunit 11 17q25.3
ANBC Aneurysmal Bone Cysts 16q22
ANC Anal Canal Carcinoma 11q22-qter
ANCR Angelman Syndrome Chromosome Region 15q11-q12
ANG Angiogenin, Ribonuclease, RNase A Family, 5 14q11.1-q11.2
ANGPT1 Angiopoietin 1 8q23.1
ANGPT2 Angiopoietin 2 8p23.1
ANGPTL3 Angiopoietin-Like 3 1p31.3
ANGPTL4 Angiopoietin-Like 4 19p13.3
ANGPTL6 Angiopoietin-Like 6 19p13.2
ANIB1 Aneurysm, Intracranial Berry 1 7q11.2
ANIB10 Aneurysm, Intracranial Berry, 10 8q12.1
ANIB11 Aneurysm, Intracranial Berry, 11 8p22
ANIB2 Aneurysm, Intracranial Berry 2 19q13
ANIB3 Aneurysm, Intracranial Berry 3 1p36.13-p34.3
ANIB4 Aneurysm, Intracranial Berry 4 5p15.2-p14.3
ANIB6 Aneurysm, Intracranial Berry, 6 9p21
ANIB7 Aneurysm, Intracranial Berry, 7 11q24-q25
ANIB8 Aneurysm, Intracranial Berry, 8 14q23
ANIB9 Aneurysm, Intracranial Berry, 9 2q33.1
ANIC Anosmia, Isolated Congenital 18p11.23-q12.2
ANK1 Ankyrin 1, Erythrocytic 8p11.1
ANK2 Ankyrin 2, Neuronal 4q25-q27
ANK3 Ankyrin 3, Node Of Ranvier (Ankyrin G) 10q21
ANKEF1 Ankyrin Repeat And EF-Hand Domain Containing 1 20p12.2
ANKFN1 Ankyrin-Repeat And Fibronectin Type III Domain Containing 1 17q22
ANKH ANKH Inorganic Pyrophosphate Transport Regulator 5p15.1
ANKHD1 Ankyrin Repeat And KH Domain Containing 1 5q31.3
ANKK1 Ankyrin Repeat And Kinase Domain Containing 1 11q23.2
ANKLE2 Ankyrin Repeat And LEM Domain Containing 2 12q24.33
ANKRD1 Ankyrin Repeat Domain 1 (Cardiac Muscle) 10q23.31
ANKRD11 Ankyrin Repeat Domain 11 16q24.3
ANKRD17 Ankyrin Repeat Domain 17 4q13.3
ANKRD2 Ankyrin Repeat Domain 2 (Stretch Responsive Muscle) 10q23
ANKRD26 Ankyrin Repeat Domain 26 10p12.1
ANKRD30A Ankyrin Repeat Domain 30A 10p11.21
ANKRD30B Ankyrin Repeat Domain 30B 18p11.21
ANKRD36B Ankyrin Repeat Domain 36B 2q11.2
ANKRD55 Ankyrin Repeat Domain 55 5q11.2
ANKS1A Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1A 6p21.31
ANKS4B Ankyrin Repeat And Sterile Alpha Motif Domain Containing 4B 16p12.2
ANKS6 Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6 9q22.33
ANLN Anillin, Actin Binding Protein 7p15-p14
ANMA Anisomastia 16q13-q21
ANO1 Anoctamin 1, Calcium Activated Chloride Channel 11q13.3
ANO10 Anoctamin 10 3p22.1
ANO3 Anoctamin 3 11p14.2
ANO5 Anoctamin 5 11p14.3
ANO6 Anoctamin 6 12q12
ANO7 Anoctamin 7 2q37.3
ANON1 Anorexia Nervosa, Susceptibility To, 1 1p
ANOP1 Anophthalmos 1 (With Mental Retardation, Without Limb Anomalies Or Dental Or Urogenital Abnormalities) Xq27-q28
ANP32A Acidic (Leucine-Rich) Nuclear Phosphoprotein 32 Family, Member A 15q23
ANP32C Acidic (Leucine-Rich) Nuclear Phosphoprotein 32 Family, Member C 4q32.3
ANPEP Alanyl (Membrane) Aminopeptidase 15q25-q26
ANTXR1 Anthrax Toxin Receptor 1 2p13.1
ANTXR2 Anthrax Toxin Receptor 2 4q21.21
ANXA4 Annexin A4 2p13
ANXA5 Annexin A5 4q27
ANXA6 Annexin A6 5q33.1
ANXA7 Annexin A7 10q22.2
AOC1 Amine Oxidase, Copper Containing 1 7q36.1
AOC2 Amine Oxidase, Copper Containing 2 (Retina-Specific) 17q21
AOC3 Amine Oxidase, Copper Containing 3 17q21
AOMS1 Abdominal Obesity-Metabolic Syndrome QTL1 3q27
AOMS2 Abdominal Obesity-Metabolic Syndrome QTL2 17p12
AOX1 Aldehyde Oxidase 1 2q33
AP1G1 Adaptor-Related Protein Complex 1, Gamma 1 Subunit 16q23
AP1G2 Adaptor-Related Protein Complex 1, Gamma 2 Subunit 14q11.2
AP1M1 Adaptor-Related Protein Complex 1, Mu 1 Subunit 19p13.12
AP1S1 Adaptor-Related Protein Complex 1, Sigma 1 Subunit 7q22.1
AP1S2 Adaptor-Related Protein Complex 1, Sigma 2 Subunit Xp22.2
AP1S3 Adaptor-Related Protein Complex 1, Sigma 3 Subunit 2q36.1
AP2A2 Adaptor-Related Protein Complex 2, Alpha 2 Subunit 11p15.5
AP2S1 Adaptor-Related Protein Complex 2, Sigma 1 Subunit 19q13.32
AP3B1 Adaptor-Related Protein Complex 3, Beta 1 Subunit 5q14.1
AP3B2 Adaptor-Related Protein Complex 3, Beta 2 Subunit 15q
AP3M1 Adaptor-Related Protein Complex 3, Mu 1 Subunit 10q22.2
AP4B1 Adaptor-Related Protein Complex 4, Beta 1 Subunit 1p13.2
AP4E1 Adaptor-Related Protein Complex 4, Epsilon 1 Subunit 15q21.2
AP4M1 Adaptor-Related Protein Complex 4, Mu 1 Subunit 7q22.1
AP4S1 Adaptor-Related Protein Complex 4, Sigma 1 Subunit 14q12
AP5M1 Adaptor-Related Protein Complex 5, Mu 1 Subunit 14q22.3
AP5Z1 Adaptor-Related Protein Complex 5, Zeta 1 Subunit 7p22.2
APAF1 Apoptotic Peptidase Activating Factor 1 12q23
APBA1 Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 1 9q21.12
APBA3 Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 3 19p13.3
APBB1 Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 1 (Fe65) 11p15
APBB2 Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 2 4p13
APC Adenomatous Polyposis Coli 5q21-q22
APC2 Adenomatosis Polyposis Coli 2 19p13.3
APCDD1 Adenomatosis Polyposis Coli Down-Regulated 1 18p11.22
APCS Amyloid P Component, Serum 1q21-q23
APEH Acylaminoacyl-Peptide Hydrolase 3p21.31
APEX1 APEX Nuclease (Multifunctional DNA Repair Enzyme) 1 14q11.2
APEX2 APEX Nuclease (Apurinic/Apyrimidinic Endonuclease) 2 Xp11.21
APITD1 Apoptosis-Inducing, TAF9-Like Domain 1 1p36.22
APLF Aprataxin And PNKP Like Factor 2p13.3
APLN Apelin Xq25
APLNR Apelin Receptor 11q12
APLP1 Amyloid Beta (A4) Precursor-Like Protein 1 19q13.1
APMR1 Alopecia-Mental Retardation Syndrome 3q26.3-q27.3
APMR2 Alopecia With Mental Retardation Syndrome 2 3q26.2-q26.31
APMR3 Alopecia-Mental Retardation Syndrome 3 18q11.2-q12.2
APOA1 Apolipoprotein A-I 11q23-q24
APOA2 Apolipoprotein A-II 1q23.3
APOA4 Apolipoprotein A-IV 11q23
APOA5 Apolipoprotein A-V 11q23
APOB Apolipoprotein B 2p24-p23
APOBEC1 Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide 1 12p13.1
APOBEC3A Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3A 22q13.1-q13.2
APOBEC3B Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3B 22q13.1-q13.2
APOBEC3C Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3C 22q13.1
APOBEC3D Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3D 22q13.1
APOBEC3F Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3F 22q13.1
APOBEC3G Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3G 22q13.1-q13.2
APOBEC3H Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3H 22q13.1
APOC1 Apolipoprotein C-I 19q13.2
APOC1P1 Apolipoprotein C-I Pseudogene 1 19q13.2
APOC2 Apolipoprotein C-II 19q13.2
APOC3 Apolipoprotein C-III 11q23.3
APOC4 Apolipoprotein C-IV 19q13.2
APOD Apolipoprotein D 3q29
APOE Apolipoprotein E 19q13.2
APOF Apolipoprotein F 12q13.3
APOH Apolipoprotein H (Beta-2-Glycoprotein I) 17q24.2
APOL1 Apolipoprotein L, 1 22q13.1
APOL2 Apolipoprotein L, 2 22q12
APOL4 Apolipoprotein L, 4 22q11.2-q13.2
APOLD1 Apolipoprotein L Domain Containing 1 12p13.1
APOM Apolipoprotein M 6p21.33
APOPT1 Apoptogenic 1, Mitochondrial 14q32.33
APP Amyloid Beta (A4) Precursor Protein 21q21.3
APPBP2 Amyloid Beta Precursor Protein (Cytoplasmic Tail) Binding Protein 2 17q23.2
APPL1 Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 1 3p14.3
APPL2 Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 2 12q24.1
APRT Adenine Phosphoribosyltransferase 16q24
APTX Aprataxin 9p13.3
AQP1 Aquaporin 1 (Colton Blood Group) 7p14
AQP12B Aquaporin 12B 2q37.3
AQP2 Aquaporin 2 (Collecting Duct) 12q12-q13
AQP3 Aquaporin 3 (Gill Blood Group) 9p13
AQP4 Aquaporin 4 18q11.2-q12.1
AQP5 Aquaporin 5 12q13
AQP6 Aquaporin 6, Kidney Specific 12q13
AQP7 Aquaporin 7 9p13
AQP8 Aquaporin 8 16p12
AQP9 Aquaporin 9 15q
AR Androgen Receptor Xq12
ARAF A-Raf Proto-Oncogene, Serine/Threonine Kinase Xp11.4-p11.2
ARAP2 ArfGAP With RhoGAP Domain, Ankyrin Repeat And PH Domain 2 4p14
ARC Activity-Regulated Cytoskeleton-Associated Protein 8q24.3
ARCI7 Ichthyosis, Congenital, Autosomal Recessive 7 12p11.2-q13.1
AREG Amphiregulin 4q13.3
ARF1 ADP-Ribosylation Factor 1 1q42
ARF1P1 ADP-Ribosylation Factor 1 Pseudogene 1 7q21.3
ARF3 ADP-Ribosylation Factor 3 12q13
ARF4 ADP-Ribosylation Factor 4 3p14.3
ARF5 ADP-Ribosylation Factor 5 7q31.3
ARF6 ADP-Ribosylation Factor 6 14q21.3
ARFGEF2 ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 (Brefeldin A-Inhibited) 20q13.13
ARFRP1 ADP-Ribosylation Factor Related Protein 1 20q13.3
ARG1 Arginase 1 6q23
ARHGAP1 Rho GTPase Activating Protein 1 11p11.2
ARHGAP17 Rho GTPase Activating Protein 17 16p12.1
ARHGAP24 Rho GTPase Activating Protein 24 4q22.1
ARHGAP26 Rho GTPase Activating Protein 26 5q31
ARHGAP31 Rho GTPase Activating Protein 31 3q13.33
ARHGAP32 Rho GTPase Activating Protein 32 11q24.3
ARHGAP33 Rho GTPase Activating Protein 33 19q13.12
ARHGAP4 Rho GTPase Activating Protein 4 Xq28
ARHGDIA Rho GDP Dissociation Inhibitor (GDI) Alpha 17q25.3
ARHGEF1 Rho Guanine Nucleotide Exchange Factor (GEF) 1 19q13.13
ARHGEF10 Rho Guanine Nucleotide Exchange Factor (GEF) 10 8p23
ARHGEF12 Rho Guanine Nucleotide Exchange Factor (GEF) 12 11q23.3
ARHGEF16 Rho Guanine Nucleotide Exchange Factor (GEF) 16 1p36.3
ARHGEF19 Rho Guanine Nucleotide Exchange Factor (GEF) 19 1p36.13
ARHGEF3 Rho Guanine Nucleotide Exchange Factor (GEF) 3 3p14.3
ARHGEF4 Rho Guanine Nucleotide Exchange Factor (GEF) 4 2q22
ARHGEF6 Rac/Cdc42 Guanine Nucleotide Exchange Factor (GEF) 6 Xq26.3
ARHGEF7 Rho Guanine Nucleotide Exchange Factor (GEF) 7 13q34
ARHGEF9 Cdc42 Guanine Nucleotide Exchange Factor (GEF) 9 Xq11.1
ARHI1 Age-Related Hearing Impairment 1 8q24.13-q24.22
ARHI2 Age-Related Hearing Impairment 2 3p26.1-p25.1
ARID1A AT Rich Interactive Domain 1A (SWI-Like) 1p35.3