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["OMIM","Location","Pathology","Gene Protein Name","Subsystem","Metabolic","Causal","Pathology caused by  red cell deficiency?","Symptoms"]
[115500,"11p13","Acatalasemia (3)  ","CAT","Other",1,"unk",1,"asymptomatic, syndrome of oral ulcerations and gangrene may be present"]
[108961,"9p21-p12","Acromesomelic dysplasia, Maroteaux type, 602875 (3)  ","NPR2, ANPRB, AMDM","Nucleotide",1,1,0,"disproportionate shortening of skeletal elements"]
[608958,"20q13.11","Adenosine deaminase deficiency, partial, 102700 (3)  ","ADA","Nucleotide",1,1,"1 (partly)","ranging from anemia to death"]
[609712,"1q21","Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)  ","PKLR, PK1","Nucleotide",1,1,1,"high red cell ATP, can cause polycythemia and pyruvate kinase hyperactivity"]
[180297,"6p21.1-p11","Anemia, hemolytic, Rh-null, regulator type, 268150 (3)  ","RHAG, RH50A","Transporter",0,1,1,"hemolytic anemia, hyperbilirubinemia"]
[606224,"7p15-p14","Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)  ","NT5C3, UMPH1, PSN1","Nucleotide",1,1,"1 (partly)","hemolytic anemia, learning difficulties"]
[608313,"6q23","Argininemia, 207800 (3)  ","ARG1","Amino Acid",1,1,0,"urea cycle disorders: mental retardation, athetosis, spasticity, episodic nausea and vomiting"]
[173335,"6q22-q23","Arterial calcification, generalized, of infancy, 208000 (3)  ","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2","Cofactor",1,1,0,"fatal due to myocardial ischemia"]
[311850,"Xq22-q24","Arts syndrome, 301835 (3)  ","PRPS1, CMTX5, DFNX1, DFN2","Pentose Phosphate Pathway/Nucleotide",1,1,0,"mental retardation, hypotonia, ataxia, delayed motor development, hearing impairment, optic atrophy, susceptibility to infections (esp. upper respiratory tract)"]
[600650,"1p32","CPT II deficiency, lethal neonatal, 608836 (3)  ","CPT2","Lipid",1,1,0,"fatal (first week of life)"]
[600528,"11q13","CPT deficiency, hepatic, type IA, 255120 (3)  ","CPT1A","Lipid",1,1,0,"hypoketotic hypoglycemia"]
[600650,"1p32","CPT deficiency, hepatic, type II, 600649 (3)  ","CPT2","Lipid",1,1,0,"lethargy, respiratory arrest, seizures, mild hepatomegaly and cardiomegaly, cardiac arrhythmias"]
[154550,"15q22-qter","Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579 (3)  ","MPI, PMI1","Carbohydrate","1 (partly)",1,0,"chronic diarrhea, hepatic fibrosis, hypoglycemia, liver disease"]
[182500,"15q15.3","Cataract, congenital (2) (?)  ","SORD, SORD1","Carbohydrate",1,"unk",0,"varied (potentially non-causal)"]
[311850,"Xq22-q24","Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3)  ","PRPS1, CMTX5, DFNX1, DFN2","PPP/Nucleotide",1,1,0,"optic atrophy, deafness, polyneuropathy"]
[607672,"11q13.3","Cold-induced sweating syndrome 1, 610313 (3)  ","CLCF1, BSF3, CLC","Lipid",0,1,"unk","opposite sweating patterns"]
[600179,"17p13.1","Cone-rod dystrophy 6, 601777(3)  ","GUCY2D, GUC2D, LCA1, CORD6, RCD2","Nucleotide","unk",1,0,"progressive cone degeneration"]
[601785,"16p13.3-p13.2","Congenital disorder of glycosylation, type Ia, 212065 (3)  ","PMM2, CDG1A","Carbohydrate"," 1 (partly)",1,0,"axial hypotonia, abnormal eye movement, pyschomotor retardation, peripheral neuropathy, cerebellar hypoplasia, retinitis pigmentoasa"]
[612732,"3q12","Coproporphyria, 121300 (3)  ","CPOX","Cofactor",1,1,"1 (partly)","hepatic porphyria or harderoporphyria (RBC) (depends on location and type of mutation on enzyme)"]
[609414,"2q35","Corneal fleck dystrophy, 121850 (3)  ","PIKFYVE, PIP5K3","Lipid","unk",1,0,"tiny white flecks in cornea"]
[191740,"2q37","Crigler-Najjar syndrome, type I, 218800 (3)  ","UGT1A1, UGT1, GNT1, BILIQTL1","Carbohydrate",1,1,0,"neurologic/intellectual impairment"]
[191740,"2q37","Crigler-Najjar syndrome, type II, 606785 (3)  ","UGT1A1, UGT1, GNT1, BILIQTL1","Carbohydrate",1,1,0,"jaundice, pigmented bile"]
[311850,"Xq22-q24","Deafness, X-linked 1, 304500 (3)  ","PRPS1, CMTX5, DFNX1, DFN2","PPP/Nucleotide","unk",1,0,"hearing loss/impairment"]
[603604,"22q13.1","Dystonia-parkinsonism, adult-onset, 612953 (3)  ","PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A","Lipid","unk",1,0,"neurodegeneration with brain iron accumulation"]
[172430,"1pter-p36.13","Enolase deficiency (1)  ","ENO1, PPH, MPB1","Glycolysis",1,"unk",1,"spherocytosis"]
[600682,"1p13.2-p12","Erythrocyte lactate transporter defect, 245340 (3)  ","SLC16A1, MCT1, HHF7","Transporter",1,1,1,"rhabdomyolysis, myoglobinuria, muscle cramping"]
[138160,"3q26.1-q26.3","Fanconi-Bickel syndrome, 227810 (3)  ","SLC2A2, GLUT2","Transporter",1,1,0,"fever, vomiting, growth failure, dwarfism, moon-shaped face, fat deposition about shoulders/abdomen, hepatomegaly, osteoporosis"]
[305900,"Xq28","Favism (3)  ","G6PD, G6PD1","PPP",1,"unk",1,"(aka G6PD deficiency) anemia as a result of exposure to fava beans"]
[611570,"9q22.2-q22.3","Fructose-1,6-bidphosphatase deficiency, 229700 (3)  ","FBP1","Carbohydrate",1,1,0,"hypoglycemia, metabolic acidosis, hyperventilation, hypoglycemia, ketosis"]
[136850,"1q42.1","Fumarase deficiency, 606812 (3)  ","FH","Carbohydrate",1,1,0,"developmental delay, hypotonia, cerebral atrophy, lactic/pyruvic/fumaric aciduria"]
[305900,"Xq28","G6PD deficiency (3)  ","G6PD, G6PD1","PPP",1,"unk",1,"(aka G6PD deficiency) anemia as a result of exposure to fava beans"]
[138140,"1p35-p31.3","GLUT1 deficiency syndrome 1, 606777 (3)  ","SLC2A1, GLUT1, DYT18, PED, ,GLUT1DS","Transporter",1,1,0,"neurologic disorder"]
[138140,"1p35-p31.3","GLUT1 deficiency syndrome 2, 612126 (3)  ","SLC2A1, GLUT1, DYT18, PED, ,GLUT1DS","Transporter",1,1,0,"paroxysmal exercise-induced dyskinesia"]
[604313,"17q24","Galactokinase deficiency with cataracts, 230200 (3)  ","GALK1","Carbohydrate",1,1,0,"cataract formation"]
[606953,"1p36-p35","Galactose epimerase deficiency, 230350 (3)  ","GALE","Carbohydrate",1,1,"unk","devlopmental problems"]
[606999,"9p13","Galactosemia, 230400 (3)  ","GALT","Carbohydrate",1,1,0,"hepatomegaly, cataracts, mental retardation"]
[182380,"22q13.1","Glucose/galactose malabsorption, 606824 (3)  ","SLC5A1, SGLT1","Carbohydrate",1,1,0,"severe diarrhea and dehydration (fatal)"]
[138290,"1q31","Glutamine deficiency, congenital, 610015 (3)  ","GLUL, GLNS","Amino Acid",1,1,0,"brain malformation, multiorgan failure, neonatal death, short limbs, muscular hypotonia, etc."]
[601002,"20q11.2","Glutathione synthetase deficiency, 266130 (3)  ","GSS, GSHS","Amino Acid",1,1,"1 (partly)","massive urinary excretion, hemolytic anemia, CNS damage"]
[300474,"Xp21.3-p21.2","Glycerol kinase deficiency, 307030 (3)  ","GK","Lipid",1,1,0,"developmental delay, hypoplasia, muscular dystrophy, hyperglycerolemia"]
[610681,"12q13.3","Glycogen storage disease VII, 232800 (3)  ","PFKM, GSD7","Glycolysis",1,1,"1 (partly)","muscle cramping, exertional myopathy, compensated hemolysis"]
[150000,"11p15.4","Glycogen storage disease XI, 612933 (3)  ","LDHA, LDH1, GSD11","Glycolysis",1,1,0,"fatigue, renal failure, "]
[103850,"16p11.2","Glycogen storage disease XII, 611881 (3)  ","ALDOA, GSD12","Glycolysis",1,1,1,"hemolytic anemia, mental retardation"]
[171900,"1p31","Glycogen storage disease XIV, 612934 (3)  ","PGM1, GSD14","Glycolysis",1,1,0,"dark brown urine"]
[311850,"Xq22-q24","Gout, PRPS-related, 300661 (3)  ","PRPS1, CMTX5, DFNX1, DFN2","PPP/Nucleotide",1,1,0,"hyperuricemia, gout, neurodevelopmental abnormalities"]
[308000,"Xq26-q27.2","HPRT-related gout, 300323 (3)  ","HPRT1, HPRT","Nucleotide","1 (partly)",1,"unk","renal failure, renal stones, renal obstruction"]
[612732,"3q12","Harderoporphyria, 121300 (3)  ","CPOX","Cofactor",1,1,"1 (partly)","hepatic porphyria or harderoporphyria (RBC) (depends on location and type of mutation on enzyme)"]
[141250,"22q12","Heme oxygenase-1 deficiency (3)  ","HMOX1","Cofactor",0,"unk","1 (partly)","growth retardation, hematuria proteinuria, hemolytic anemia, high susceptibilty to lung cancer"]
[305900,"Xq28","Hemolytic anemia due to G6PD deficiency (3)  ","G6PD, G6PD1","PPP",1,"unk",1,"(aka G6PD deficiency) anemia as a result of exposure to fava beans"]
[103000,"9q34.1","Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)  ","AK1","Nucletoide",1,1,1,"hemolytic anemia"]
[222800,"7q31-q34","Hemolytic anemia due to bisphosphoglycerate mutase deficiency (3)  ","BPGM","Glycolysis",1,"unk",1,"hemolytic anemia"]
[606857,"6p12","Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)  ","GCLC, GLCLC","Amino Acid",1,1,1,"hemolytic anemia"]
[172400,"19q13.1","Hemolytic anemia due to glucosephosphate isomerase deficiency (3)  ","GPI","Glycolysis",1,"unk",1,"hemolytic anemia"]
[138320,"3p21.3","Hemolytic anemia due to glutathione peroxidase deficiency (1)  ","GPX1","Redox",1,"unk",1,"hemolytic anemia"]
[138300,"8p21.1","Hemolytic anemia due to glutathione reductase deficiency (1)  ","GSR","Redox",1,"unk",1,"hemolytic anemia"]
[601002,"20q11.2","Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)  ","GSS, GSHS","Amino Acid",1,1,1,"hemolytic anemia"]
[142600,"10q22","Hemolytic anemia due to hexokinase deficiency, 235700 (3)  ","HK1","Glycolysis",1,1,1,"hemolytic anemia"]
[171860,"21q22.3","Hemolytic anemia due to phosphofructokinase deficiency (1)  ","PFKL","Glycolysis",1,"unk",1,"hemolytic anemia"]
[190450,"12p13","Hemolytic anemia due to triosephosphate isomerase deficiency (3)  ","TPI1","Glycolysis",1,"unk",1,"hemolytic anemia"]
[172400,"19q13.1","Hydrops fetalis, one form (1)  ","GPI","Glycolysis",1,"unk","1 (partly)","abnormal amounts of fluid build up in fetus"]
[191740,"2q37","Hyperbilirubinemia, familial transcient neonatal, 237900 (3)  ","UGT1A1, UGT1, GNT1, BILIQTL1","Cofactor",0,1,0,"mental retardation, breast milk jaundice"]
[606945,"19p13.2","Hypercholesterolemia, familial, 143890 (3)  ","LDLR, FHC, FH, LDLCQ2","TCA",1,1,0,"tendinous xanthomas, corneal arcus, coronary artery disease, atheroslerotic plaque in aortic root"]
[600682,"1p13.2-p12","Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)  ","SLC16A1, MCT1, HHF7","Transporter",0,1,0,"hypoglycemia"]
[180960,"20cen-q13.1","Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3)  ","AHCY, SAHH","Amino Acid",0,"unk",0,"mental and motor retardation, facial dysmorphism, myocardiopathy"]
[610550,"10q22","Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)  ","MAT1A, MATA1, SAMS1","Amino Acid",1,1,0,"rarely clinical abnormalities, though some have neurologic problems"]
[173335,"6q22-q23","Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)  ","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2","Cofactor","unk",1,0,"arterial calcification"]
[164050,"14q13.1","Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)  ","PNP, NP","Nucleotide",1,1,0,"defective T and B cell immunity"]
[603604,"22q13.1","Infantile neuroaxonal dystrophy 1, 256600 (3)  ","PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A","Lipid",1,1,0,"neurodegeneration, facial dysmorphism"]
[603604,"22q13.1","Karak syndrome, 610217 (3)  ","PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A","Lipid",1,1,0,"abnormal iron accumulation, gait instability, ataxia, speech delay, optic atrophy, seizures, progress dystonia and dysarthria, etc."]
[606945,"19p13.2","LDL cholesterol level QTL2 (3)  ","LDLR, FHC, FH, LDLCQ2","TCA",1,"unk",0,"high LDL cholesterol levels, risk factor for incident cardiovascular disease"]
[150100,"12p12.2-p12.1","Lactate dehydrogenase-B deficiency (3)  ","LDHB","Glycolysis",1,"unk",0,"seen in RBC though no abnormalities, can lead to renal failure "]
[600179,"17p13.1","Leber congenital amaurosis 1, 204000 (3)  ","GUCY2D, GUC2D, LCA1, CORD6, RCD2","Nucleotide","unk",1,0,"congenital visual impairment, neurologic disorders"]
[146690,"7q31.3-q32","Leber congenital amaurosis 11 (3)  ","IMPDH1, RP10, LCA11","Nucleotide","unk","unk",0,"congenital visual impairment, neurologic disorders"]
[136850,"1q42.1","Leiomyomatosis and renal cell cancer, 605839 (3)  ","FH","TCA",0,1,0,"predisposition to uterine leiomyomas and papillary renal cell carcinoma"]
[308000,"Xq26-q27.2","Lesch-Nyhan syndrome, 300322 (3)  ","HPRT1, HPRT","Nucleotide",1,1,"1 (partly)","mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, megaloblastic anemia (in some)"]
[606102,"19p13.3","Lethal congenital contractural syndrome 3, 611369 (3)  ","PIP5K1C, LCCS3","Lipid",0,1,0,"born with severe multiple joint contractures with sever muscle wasting and atrophy (death within hours of birth)"]
[600358,"3q24","Leukemia, acute myelogenous, 601626 (3)  ","GMPS","Nucleotide",0,"unk",0,"AML"]
[603100,"9q34.3","Lipodystrophy, congenital generalized, type 1, 608594 (3)  ","AGPAT2, LPAAB, BSCL, BSCL1","Lipid",1,1,0,"paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, early onset of diabetes"]
[300105,"Xp22.1","Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)  ","SMS, SRS, MRSR","Amino Acid","unk",1,0,"mental retardation, hypotonia, unsteady gait, seizures, etc."]
[610550,"10q22","Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)  ","MAT1A, MATA1, SAMS1","Amino Acid",1,1,0,"rarely clinical abnormalities, though some have neurologic problems"]
[136850,"1q42.1","Multiple cutaneous and uterine leiomyomata, 150800 (3)  ","FH","TCA",0,1,0,"small tumors composed of smoth muscle fibers develop in skin"]
[600650,"1p32","Myopathy due to CPT II deficiency, 255110 (3)  ","CPT2","Lipid",1,1,0,"rhabdomylolysis"]
[258900,"3q13","Oroticaciduria (3)  ","UMPS, OPRT","Nucleotide",1,"unk",1,"megaloblastic anemia, defect in cellular immunity"]
[173335,"6q22-q23","Ossification of posterior longitudinal ligament of spine, 602475 (3)  ","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2","Cofactor",1,"unk",0,"abnormal ossification of spinal ligaments"]
[611492,"8q22","Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)  ","CA2","Other",1,1,"1 (partly)","osteopetrosis, visual impairment, dental malocclusion, mental retardation, short stature, renal tubular acidsosi, mild anemia"]
[109270,"17q21-q22","Ovalocytosis (3)  ","SLC4A1, AE1, EPB3","Transporter",0,"unk",1,"oval shaped rbc, associated with mild hemolytic anemia"]
[608347,"17q25.3","Pentosuria, 260800 (1)  ","DCXR, P34H","Carbohydrate",1,"unk","1 (partly)","benign, excretion of l-xylulose in urine (mostly from liver/kidney)"]
[311800,"Xq13","Phosphoglycerate kinase 1 deficiency, 300653 (3)  ","PGK1, PGKA","Glycolysis",1,1,"1 (partly)","hemolytic anemia, myopathy, neurologic development"]
[600522,"1q25","Phospholipase A2, group IV A, deficiency of (3)  ","PLA2G4A, PLA2G4","Lipid",1,"unk",0,"ulcers of small intestine, platelet dysfunction, globally decreased eicosanoid production"]
[604961,"2q31.2","Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)  ","PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2","Nucleotide","unk",1,0,"Cushing syndrome, adrenocortical hyperplasia"]
[603390,"5q13","Pigmented nodular adrenocortical disease, primary, 3 (3)  ","PDE8B, PPNAD3, ADSD","Nucleotide","unk","unk",0,"Cushing syndrome"]
[176100,"1p34","Porphyria cutanea tarda (3)  ","UROD","Cofactor",1,1,0,"ligh sensitive dermatitis, excretion of large amounts of uroporphyrin in urine"]
[125270,"9q34","Porphyria, acute hepatic, 612740 (3)  ","ALAD, ALADH, PBGS","Cofactor",1,1,0,"abnormal pain or cramping, light sensitivity causing rashes/scarring, problems w/nervous system"]
[609806,"11q23.3","Porphyria, acute intermittent, 176000 (3)  ","HMBS, PBGD, UPS","Cofactor",1,1,0,"abdominal pain, gastrointestinal dysfunction, neurologic disturbances"]
[609806,"11q23.3","Porphyria, acute intermittent, nonerythroid variant, 176000 (3)  ","HMBS, PBGD, UPS","Cofactor",1,1,1,"abdominal pain, gastrointestinal dysfunction, neurologic disturbances"]
[606938,"10q25.2-q26.3","Porphyria, congenital erythropoietic, 263700 (3)  ","UROS","Cofactor",1,1,1,"organomegaly, hemolytic anemia, thyromgbocytopenia, cutaneous blisters"]
[176100,"1p34","Porphyria, hepatoerythropoietic (3)  ","UROD","Cofactor",1,1,"1 (partly)","present in infancy, excessive excretion o facetate-substitute porphyrins, asymptomatic"]
[612386,"18q21.3","Protoporphyria, erythropoietic, autosomal dominant, 177000 (3)  ","FECH, FCE","Cofactor",1,1,1,"mild form of porphyria, painful photosensitivity"]
[612386,"18q21.3","Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)  ","FECH, FCE","Cofactor",1,1,1,"mild form of porphyria, painful photosensitivity"]
[603287,"17q21.32","Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)  ","PNPO","Nucleotide","unk",1,0,"premature birth, acidosis, hypoxic-ischemic encephalopathy"]
[609712,"1q21","Pyruvate kinase deficiency, 266200 (3)  ","PKLR, PK1","Glycolysis",1,1,1,"nonspherocytic hemolytic anemia"]
[109270,"17q21-q22","Renal tubular acidosis, distal, AD, 179800 (3)  ","SLC4A1, AE1, EPB3","Transporter",1,1,0,"osteomalacia, hypocalcemia, nephrocalcinosis, renal tubular acidosis"]
[109270,"17q21-q22","Renal tubular acidosis, distal, AR, 611590 (3)  ","SLC4A1, AE1, EPB3","Transporter",1,1,"1 (partly)","same symptoms as renal tubular acidosis but includes mild hemolytic anemia"]
[146690,"7q31.3-q32","Retinitis pigmentosa-10, 180105 (3)  ","IMPDH1, RP10, LCA11","Nucleotide",1,1,0,"progressive damage to retina resulting in loss of peripheral (central) vision"]
[180297,"6p21.1-p11","Rh-mod syndrome (3)  ","RHAG, RH50A","Transporter",0,"unk",1,"hemolytic anemia, possible spherocytes"]
[180430,"2p11.2","Ribose 5-phosphate isomerase deficiency, 608611 (3)  ","RPIA, RPI","PPP",1,1,"unk","leukoencephalopathy, peripheral neuropathy"]
[608958,"20q13.11","Severe combined immunodeficiency due to ADA deficiency, 102700 (3)  ","ADA","Nucleotide",1,1,0,"severe combined immunodeficiency in T-, B-, NK- cells"]
[607642,"17p11.2","Smith-Magenis syndrome, 182290 (3)  ","RAI1, SMCR, SMS","Amino Acid",0,"unk",0,"retardation, speech delay, small ears, hearing loss, esotropia, dental enamel dysplasia, prominent premaxilla"]
[109270,"17q21-q22","Spherocytosis, type 4, 612653 (3)  ","SLC4A1, AE1, EPB3","Transporter",0,1,1,"oval shaped rbc, associated with mild hemolytic anemia"]
[603390,"5q13","Striatal degeneration, autosomal dominant, 609161 (3)  ","PDE8B, PPNAD3, ADSD","Nucleotide","unk",1,0,"neurodegenerative disease"]
[601843,"19p13.2-p12","Thyroid dyshormonogenesis 1, 274400 (3)  ","SLC5A5, NIS, TDH1","Transporter",1,1,0,"iodide tarnsport defect leading to hypothyroidism"]
[602063,"11p15.5-p15.4","Transaldolase deficiency, 606003 (3)  ","TALDO1","PPP",1,1,0,"aortic coarctation, hepatosplenomegaly, telangiectases of skin"]
[613018,"16q22.1-q22.3","Tyrosinemia, type II, 277660 (3)  ","TAT","Amino Acid",1,1,0,"excessive tearing, abnormal sensitivity to light, painful skin lesions, intellectual disablity"]
[102600,"16q24.3","Urolithiasis, 2,8-dihydroxyadenine (3)  ","APRT","Nucleotide",1,"unk",0,"kidney stones"]
[102772,"11pter-p13","[AMP deaminase deficiency, erythrocytic], 612874 (3)  ","AMPD3","Nucleotide",1,1,1,"none"]
[191740,"2q37","[Bilirubin, serum level of, QTL1], 601816 (3)  ","UGT1A1, UGT1, GNT1, BILIQTL1","Cofactor",1,1,"unk","increased risk of coronary artery disease, "]
[109270,"17q21-q22","[Blood group, Diego], 110500 (3)  ","SLC4A1, AE1, EPB3","Transporter",0,1,1,"hemolytic anemia"]
[109270,"17q21-q22","[Blood group, Froese], 601551  ","SLC4A1, AE1, EPB3","Transporter",0,1,1,"none"]
[111000,"18q11-q12","[Blood group, Kidd] (3)  ","SLC14A1, JK, UTE, UT1","Transporter",1,"unk",1,"none"]
[109270,"17q21-q22","[Blood group, Waldner], 112010 (3)  ","SLC4A1, AE1, EPB3","Transporter",0,1,1,"none"]
[109270,"17q21-q22","[Blood group, Wright], 112050 (3)  ","SLC4A1, AE1, EPB3","Transporter",0,1,1,"none"]
[191740,"2q37","[Gilbert syndrome], 143500 (3)  ","UGT1A1, UGT1, GNT1, BILIQTL1","Cofcator",1,1,0,"jaundice, high bilirubin levels in serum"]
[138760,"16p13","[Glyoxalase II deficiency] (1)  ","HAGH, GLO2","Pyruvate Metabolism",1,"unk",0,"none"]
[146691,"3p21.2","[IMPDH2 enzyme activity, variation in] (3)  ","IMPDH2, IMPD2","Nucleotide",1,"unk","unk","could have effect ini transplant patient responses"]
[109270,"17q21-q22","[Malaria, resistance to], 611162 (3)  ","SLC4A1, AE1, EPB3","Transporter",0,1,1,"hemolytic anemia destroys malaria-infected erythrocytes"]
[111000,"18q11-q12","[Urea transport defect, compensated] (1)  ","SLC14A1, JK, UTE, UT1","Transporter",1,"unk","1 (partly)","no obvious clinical syndrome except urine concentration defect"]
[138750,"6p21.3-p21.2","{Autism, susceptibility to}, 209850 (3)  ","GLO1","Pyruvate Metabolism",1,"unk",0,"autism"]
[165640,"2p25","{Colonic adenoma recurrence, reduced risk of}, 114500 (3)  ","ODC1","Amino Acid",1,"unk",0,"reduced risk of colon cancer"]
[172411,"1p35","{Colorectal cancer}, 114500 (3)  ","PLA2G2A, PLA2B, PLA2L, MOM1","Lipid","unk","unk",0,"colorectal cancer"]
[173335,"6q22-q23","{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)  ","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2","Cofactor","unk","unk",0,"predisposition to obesity, diabetes, coronary artery disease"]
[138160,"3q26.1-q26.3","{Diabetes mellitus, noninsulin-dependent} (3)  ","SLC2A2, GLUT2","Transporter","unk","unk",0,"correlation with type 2 diabetes"]
[138190,"17p13","{Diabetes mellitus, noninsulin-dependent}, 125853 (3)  ","SLC2A4, GLUT4","Transporter","unk","unk",0,"correlation with type 2 diabetes"]
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[606857,"6p12","{Myocardial infarction, susceptibility to}, 608446 (3)  ","GCLC, GLCLC","Amino Acid",1,"unk",0,"susceptibility to myocardial infarction"]
[300444,"Xq23-q24","{Obesity, susceptibility to, BMIQ11}, 300306 (3)  ","SLC6A14, OBX, BMIQ11","Transporter",1,"unk",0,"susceptibility to obesity"]
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[141250,"22q12","{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)  ","HMOX1","Cofactor","unk","unk",0,"associated w/susceptibility to emphysema"]
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[600129,"5q12","{Stroke, susceptibility to, 1}, 606799 (3)  ","PDE4D, DPDE3, STRK1","Nucleotide","unk","unk",0,"strong association w/carotid and cardiogenic stroke, forms related to atherosclerosis"]

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