Explore the normal functions of human genes and the health implications of genetic changes.

• AAAS: aladin WD repeat nucleoporin
• AASS: aminoadipate-semialdehyde synthase
• ABAT: 4-aminobutyrate aminotransferase
• ABCA1: ATP binding cassette subfamily A member 1
• ABCA3: ATP binding cassette subfamily A member 3
• ABCA4: ATP binding cassette subfamily A member 4
• ABCA12: ATP binding cassette subfamily A member 12
• ABCB4: ATP binding cassette subfamily B member 4
• ABCB7: ATP binding cassette subfamily B member 7
• ABCB11: ATP binding cassette subfamily B member 11
• ABCC2: ATP binding cassette subfamily C member 2
• ABCC6: ATP binding cassette subfamily C member 6
• ABCC8: ATP binding cassette subfamily C member 8
• ABCC9: ATP binding cassette subfamily C member 9
• ABCD1: ATP binding cassette subfamily D member 1
• ABCD4: ATP binding cassette subfamily D member 4
• ABCG2: ATP binding cassette subfamily G member 2 (JR blood group)
• ABCG5: ATP binding cassette subfamily G member 5
• ABCG8: ATP binding cassette subfamily G member 8
• ABHD5: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
• ABL1: ABL proto-oncogene 1, non-receptor tyrosine kinase
• ACAD8: acyl-CoA dehydrogenase family member 8
• ACAD9: acyl-CoA dehydrogenase family member 9
• ACADM: acyl-CoA dehydrogenase medium chain
• ACADS: acyl-CoA dehydrogenase short chain
• ACADSB: acyl-CoA dehydrogenase short/branched chain
• ACADVL: acyl-CoA dehydrogenase very long chain
• ACAN: aggrecan
• ACAT1: acetyl-CoA acetyltransferase 1
• ACE: angiotensin I converting enzyme
• ACOX1: acyl-CoA oxidase 1
• ACP5: acid phosphatase 5, tartrate resistant
• ACSF3: acyl-CoA synthetase family member 3
• ACTA1: actin alpha 1, skeletal muscle
• ACTA2: actin alpha 2, smooth muscle
• ACTB: actin beta
• ACTG1: actin gamma 1
• ACTG2: actin gamma 2, smooth muscle
• ACVR1: activin A receptor type 1
• ACVRL1: activin A receptor like type 1
• ACY1: aminoacylase 1
• ADA2: adenosine deaminase 2
• ADA: adenosine deaminase
• ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif 2
• ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif 10
• ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif 13
• ADAMTSL2: ADAMTS like 2
• ADAMTSL4: ADAMTS like 4
• ADAR: adenosine deaminase RNA specific
• ADCY5: adenylate cyclase 5
• ADGRE2: adhesion G protein-coupled receptor E2
• ADGRG1: adhesion G protein-coupled receptor G1
• ADNP: activity dependent neuroprotector homeobox
• ADSL: adenylosuccinate lyase
• AFF2: ALF transcription elongation factor 2
• AFF4: ALF transcription elongation factor 4
• AGA: aspartylglucosaminidase
• AGL: amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
• AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
• AGPS: alkylglycerone phosphate synthase
• AGT: angiotensinogen
• AGTR1: angiotensin II receptor type 1
• AGXT: alanine--glyoxylate aminotransferase
• AHCY: adenosylhomocysteinase
• AHDC1: AT-hook DNA binding motif containing 1
• AIP: aryl hydrocarbon receptor interacting protein
• AIRE: autoimmune regulator
• AKR1D1: aldo-keto reductase family 1 member D1
• AKT1: AKT serine/threonine kinase 1
• AKT3: AKT serine/threonine kinase 3
• ALAD: aminolevulinate dehydratase
• ALAS2: 5'-aminolevulinate synthase 2
• ALDH3A2: aldehyde dehydrogenase 3 family member A2
• ALDH4A1: aldehyde dehydrogenase 4 family member A1
• ALDH5A1: aldehyde dehydrogenase 5 family member A1
• ALDH7A1: aldehyde dehydrogenase 7 family member A1
• ALDH18A1: aldehyde dehydrogenase 18 family member A1
• ALDOB: aldolase, fructose-bisphosphate B
• ALG1: ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
• ALG6: ALG6 alpha-1,3-glucosyltransferase
• ALG12: ALG12 alpha-1,6-mannosyltransferase
• ALK: ALK receptor tyrosine kinase
• ALMS1: ALMS1 centrosome and basal body associated protein
• ALOX12B: arachidonate 12-lipoxygenase, 12R type
• ALOXE3: arachidonate epidermal lipoxygenase 3
• ALPL: alkaline phosphatase, biomineralization associated
• ALS2: alsin Rho guanine nucleotide exchange factor ALS2
• ALX1: ALX homeobox 1
• ALX3: ALX homeobox 3
• ALX4: ALX homeobox 4
• AMACR: alpha-methylacyl-CoA racemase
• AMELX: amelogenin X-linked
• AMER1: APC membrane recruitment protein 1
• AMH: anti-Mullerian hormone
• AMHR2: anti-Mullerian hormone receptor type 2
• AMN: amnion associated transmembrane protein
• AMPD1: adenosine monophosphate deaminase 1
• AMT: aminomethyltransferase
• ANK1: ankyrin 1
• ANK2: ankyrin 2
• ANKH: ANKH inorganic pyrophosphate transport regulator
• ANKRD11: ankyrin repeat domain containing 11
• ANO5: anoctamin 5
• ANOS1: anosmin 1
• ANTXR2: ANTXR cell adhesion molecule 2
• APC: APC regulator of WNT signaling pathway
• APOA1: apolipoprotein A1
• APOB: apolipoprotein B
• APOE: apolipoprotein E
• APP: amyloid beta precursor protein
• APRT: adenine phosphoribosyltransferase
• APTX: aprataxin
• AQP2: aquaporin 2
• AR: androgen receptor
• ARFGEF2: ARF guanine nucleotide exchange factor 2
• ARG1: arginase 1
• ARHGAP31: Rho GTPase activating protein 31
• ARID1A: AT-rich interaction domain 1A
• ARID1B: AT-rich interaction domain 1B
• ARMC5: armadillo repeat containing 5
• ARMS2: age-related maculopathy susceptibility 2
• ARSA: arylsulfatase A
• ARSB: arylsulfatase B
• ARSL: arylsulfatase L
• ARX: aristaless related homeobox
• ASAH1: N-acylsphingosine amidohydrolase 1
• ASH1L: ASH1 like histone lysine methyltransferase
• ASL: argininosuccinate lyase
• ASNS: asparagine synthetase (glutamine-hydrolyzing)
• ASPA: aspartoacylase
• ASPM: assembly factor for spindle microtubules
• ASS1: argininosuccinate synthase 1
• ASXL1: ASXL transcriptional regulator 1
• ATG16L1: autophagy related 16 like 1
• ATL1: atlastin GTPase 1
• ATM: ATM serine/threonine kinase
• ATN1: atrophin 1
• ATP1A1: ATPase Na+/K+ transporting subunit alpha 1
• ATP1A3: ATPase Na+/K+ transporting subunit alpha 3
• ATP1A2: ATPase Na+/K+ transporting subunit alpha 2
• ATP2A2: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
• ATP2C1: ATPase secretory pathway Ca2+ transporting 1
• ATP2A1: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
• ATP6V1B1: ATPase H+ transporting V1 subunit B1
• ATP6V0A2: ATPase H+ transporting V0 subunit a2
• ATP6V0A4: ATPase H+ transporting V0 subunit a4
• ATP7A: ATPase copper transporting alpha
• ATP7B: ATPase copper transporting beta
• ATP8B1: ATPase phospholipid transporting 8B1
• ATRX: ATRX chromatin remodeler
• ATXN1: ataxin 1
• ATXN2: ataxin 2
• ATXN3: ataxin 3
• AUH: AU RNA binding methylglutaconyl-CoA hydratase
• AURKC: aurora kinase C
• AVP: arginine vasopressin
• AVPR2: arginine vasopressin receptor 2