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- AAAS: achalasia, adrenocortical insufficiency, alacrimia
- AASS: aminoadipate-semialdehyde synthase
- ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
- ABCA3: ATP-binding cassette, sub-family A (ABC1), member 3
- ABCA4: ATP-binding cassette, sub-family A (ABC1), member 4
- ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
- ABCB4: ATP-binding cassette, sub-family B (MDR/TAP), member 4
- ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
- ABCB11: ATP-binding cassette, sub-family B (MDR/TAP), member 11
- ABCC2: ATP-binding cassette, sub-family C (CFTR/MRP), member 2
- ABCC6: ATP-binding cassette, sub-family C (CFTR/MRP), member 6
- ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
- ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9
- ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
- ABHD5: abhydrolase domain containing 5
- ACAD8: acyl-CoA dehydrogenase family, member 8
- ACADM: acyl-CoA dehydrogenase, C-4 to C-12 straight chain
- ACADS: acyl-CoA dehydrogenase, C-2 to C-3 short chain
- ACADSB: acyl-CoA dehydrogenase, short/branched chain
- ACADVL: acyl-CoA dehydrogenase, very long chain
- ACAN: aggrecan
- ACAT1: acetyl-CoA acetyltransferase 1
- ACSF3: acyl-CoA synthetase family member 3
- ACTA1: actin, alpha 1, skeletal muscle
- ACTA2: actin, alpha 2, smooth muscle, aorta
- ACTG1: actin, gamma 1
- ACVR1: activin A receptor, type I
- ACVRL1: activin A receptor type II-like 1
- 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
- AGA: aspartylglucosaminidase
- AGL: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
- AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
- AGPS: alkylglycerone phosphate synthase
- AGXT: alanine-glyoxylate aminotransferase
- AHCY: adenosylhomocysteinase
- AIRE: autoimmune regulator
- AKT1: v-akt murine thymoma viral oncogene homolog 1
- ALAD: aminolevulinate dehydratase
- ALAS1: aminolevulinate, delta-, synthase 1
- ALAS2: aminolevulinate, delta-, 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
- ALDOB: aldolase B, fructose-bisphosphate
- ALK: anaplastic lymphoma receptor tyrosine kinase
- ALMS1: Alstrom syndrome 1
- ALOX12B: arachidonate 12-lipoxygenase, 12R type
- ALOXE3: arachidonate lipoxygenase 3
- ALPL: alkaline phosphatase, liver/bone/kidney
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- ALX4: ALX homeobox 4
- AMELX: amelogenin, X-linked
- AMH: anti-Mullerian hormone
- AMHR2: anti-Mullerian hormone receptor, type II
- AMPD1: adenosine monophosphate deaminase 1
- AMT: aminomethyltransferase
- ANG: angiogenin, ribonuclease, RNase A family, 5
- ANK1: ankyrin 1, erythrocytic
- ANK2: ankyrin 2, neuronal
- ANKH: ankylosis, progressive homolog (mouse)
- ANO5: anoctamin 5
- ANTXR2: anthrax toxin receptor 2
- APC: adenomatous polyposis coli
- APOA1: apolipoprotein A-I
- APOB: apolipoprotein B (including Ag(x) antigen)
- APOE: apolipoprotein E
- APP: amyloid beta (A4) precursor protein
- APRT: adenine phosphoribosyltransferase
- APTX: aprataxin
- AQP2: aquaporin 2 (collecting duct)
- AR: androgen receptor
- ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
- ARG1: arginase, liver
- ARMS2: age-related maculopathy susceptibility 2
- ARSA: arylsulfatase A
- ARSB: arylsulfatase B
- ARSE: arylsulfatase E (chondrodysplasia punctata 1)
- ARX: aristaless related homeobox
- ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
- ASL: argininosuccinate lyase
- ASPA: aspartoacylase
- ASPM: asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
- ASS1: argininosuccinate synthase 1
- ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
- ATL1: atlastin GTPase 1
- ATM: ataxia telangiectasia mutated
- ATN1: atrophin 1
- ATP1A2: ATPase, Na+/K+ transporting, alpha 2 polypeptide
- ATP1A3: ATPase, Na+/K+ transporting, alpha 3 polypeptide
- ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
- ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
- ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
- ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
- ATP7A: ATPase, Cu++ transporting, alpha polypeptide
- ATP7B: ATPase, Cu++ transporting, beta polypeptide
- ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
- ATRX: alpha thalassemia/mental retardation syndrome X-linked
- ATXN1: ataxin 1
- ATXN2: ataxin 2
- ATXN3: ataxin 3
- AUH: AU RNA binding protein/enoyl-CoA hydratase
- AVP: arginine vasopressin
- AVPR2: arginine vasopressin receptor 2
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