ABCDEFGHIJKLMNOPQRSTUVWXYZ
1
遺伝子疾患遺伝形式対象人口保因者頻度検出率検査後保因確率残存リスク
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ABCA12Congenital ichthyosis, ABCA12-relatedARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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ABCA3
Surfactant metabolism dysfunction, pulmonary 3
ARGeneral Population1 in 11699%1 in 11,5011 in 5,336,464
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ABCA4Stargardt diseaseARGeneral Population1 in 5198%1 in 2,5011 in 510,204
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ABCB11
Progressive familial intrahepatic cholestasis
ARGeneral Population1 in 11298%1 in 5,5511 in 2,486,848
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ABCB4
Progressive familial intrahepatic cholestasis
ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ABCC8Familial hyperinsulinismARGeneral Population1 in 11298%1 in 5,5511 in 2,486,848
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Ashkenazi Jewish Population1 in 4498%1 in 2,1511 in 378,576
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Finnish Population1 in 2598%1 in 1,2011 in 120,100
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Middle-Eastern Population1 in 2598%1 in 1,2011 in 120,100
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ABCD1Adrenoleukodystrophy, X-linkedXLGeneral Population1 in 21,00099%
1 in 2,099,901
1 in 8,399,804
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ABCD4
Methylmalonic aciduria and homocystinuria, cblJ type
ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ACAD9
Acyl-CoA dehydrogenase-9 (ACAD9) deficiency
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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ACADMMedium-chain acyl-CoA dehydrogenaseARGeneral Population1 in 6998%1 in 3,4011 in 938,676
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(MCAD) deficiencyCaucasian / European Population1 in 5299%1 in 5,1011 in 1,061,008
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East Asian Population1 in 19899%1 in 19,701<1 in 10 million
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Native American Population1 in 4396%1 in 1,0511 in 180,772
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ACADS
Short-chain acyl-coA dehydrogenase (SCAD)
ARGeneral Population1 in 8599%1 in 8,4011 in 2,856,340
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deficiency
African/African American Population
1 in 5299%1 in 5,1011 in 1,061,008
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Caucasian / European Population1 in 7699%1 in 7,5011 in 2,280,304
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Middle-Eastern Population1 in 5299%1 in 5,1011 in 1,061,008
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South Asian/Indian Population1 in 5199%1 in 5,0011 in 1,020,204
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ACADSBShort branched chain acyl-CoAARGeneral Population1 in 36899%1 in 36,701<1 in 10 million
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dehydrogenase (SBCAD) deficiencyHmong Population1 in 699%1 in 501<1 in 10 million
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ACADVL
Very long-chain acyl-CoA dehydrogenase
ARGeneral Population1 in 11893%1 in 1,6721 in 789,184
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(VLCAD) deficiencyMiddle-Eastern Population1 in 7493%1 in 1,0441 in 309,024
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Native American Population1 in 6193%1 in 8581 in 209,352
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South Asian/Indian Population1 in 7393%1 in 1,0301 in 300,760
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ACAT13-ketothiolase deficiencyARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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ACOX1
Peroxisomal acyl-CoA oxidase deficiency
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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ACSF3
Combined malonic and methylmalonic aciduria
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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ADAAdenosine deaminase deficiencyARGeneral Population1 in 22493%1 in 3,1871 in 2,855,552
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ADAMTS2
Ehlers-Danlos syndrome, dermatosparaxis
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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typeAshkenazi Jewish Population1 in 24898%1 in 12,351<1 in 10 million
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ADGRG1Bilateral frontoparietal polymicrogyriaARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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ADGRV1Usher syndrome, type IICARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ADK
Hypermethioninemia due to adenosine kinase deficiency
ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AFF2Fragile XE syndromeXLGeneral Population
<1 in 50,000
98%
1 in 2,499,951
1 in 9,999,804
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AGAAspartylglucosaminuriaARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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Finnish Population1 in 7198%1 in 3,5011 in 994,284
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AGLGlycogen storage disease type IIIARGeneral Population1 in 15895%1 in 3,1411 in 1,985,112
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Faroese Population1 in 2895%1 in 5411 in 60,592
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Inuit Population1 in 2595%1 in 4811 in 48,100
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North African Jewish Population1 in 3795%1 in 7211 in 106,708
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AGPAT2
Congenital generalized lipodystrophy, type 1
ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AGPS
Rhizomelic chondrodysplasia punctata, type 3
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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AGXTPrimary hyperoxaluria type 1ARGeneral Population1 in 12099%1 in 11,9011 in 5,712,480
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Caucasian / European Population1 in 17399%1 in 17,201<1 in 10 million
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AHCY
Hypermethioninemia due to deficiency of S- adenosylhomocysteine hydrolase
ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AHI1Joubert syndrome, AHI1-relatedARGeneral Population1 in 44899%1 in 44,701<1 in 10 million
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AIMP1Hypomyelinating leukodystrophy 3ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AIPL1
Childhood-onset severe retinal dystrophy, AIPL1-related
ARGeneral Population1 in 40999%1 in 40,801<1 in 10 million
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AIRE
Autoimmune polyendocrinopathy syndrome
ARGeneral Population1 in 15098%1 in 7,4511 in 4,470,600
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type IFinnish Population1 in 7998%1 in 3,9011 in 1,232,716
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AK2Reticular dysgenesisARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AKR1D1Congenital Bile Acid Synthesis DefectARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ALDH3A2Sjögren-Larsson syndromeARGeneral Population1 in 25098%1 in 12,451<1 in 10 million
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ALDH4A1Hyperprolinemia type IIARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ALDH7A1Pyridoxine-dependent epilepsyARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ALDOBHereditary fructose intoleranceARGeneral Population1 in 12299%1 in 12,1011 in 5,905,288
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African/African American Population
1 in 25099%1 in 24,901<1 in 10 million
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Caucasian / European Population1 in 6799%1 in 6,6011 in 1,769,068
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Middle-Eastern Population1 in 9799%1 in 9,6011 in 3,725,188
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ALG6
Congenital disorder of glycosylation type Ic
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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ALMS1Alstrom syndromeARGeneral Population1 in 50098%1 in 24,951<1 in 10 million
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ALOX12B
Autosomal recessive, congenital, ichthyosis 2
ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ALOXE3Congenital ichthyosiform erythrodermaARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ALPLHypophosphatasiaARGeneral Population1 in 15895%1 in 3,1411 in 1,985,112
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Caucasian / European Population1 in 27495%1 in 5,4611 in 5,985,256
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Mennonite Population1 in 2595%1 in 4811 in 48,100
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AMH
Persistent mullerian duct syndrome, type I
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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AMHR2
Persistent mullerian duct syndrome, type II
ARGeneral Population<1 in 50098%1 in 24,951<1 in 10 million
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AMNMegaloblastic anemia 1ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AMPD2Pontocerebellar hypoplasia type 9ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AMTGlycine encephalopathyARGeneral Population1 in 37398%1 in 18,601<1 in 10 million
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Finnish Population1 in 11798%1 in 5,8011 in 2,714,868
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ANO10Spinocerebellar ataxia 10ARGeneral Population1 in 9399%1 in 9,2011 in 3,422,772
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ANO5Gnathodiaphyseal dysplasiaARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ANTXR2Hyaline fibromatosis syndromeARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AP1S1MEDNIK syndromeARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AP1S2
X-linked Intellectual disability, AP1S2-related
XLGeneral Population
<1 in 50,000
99%
1 in 4,999,901
<1 in 10 million
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AP3B1Hermansky-Pudlak syndrome 2ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AP3D1Hermansky-Pudlak syndrome 10ARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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APOPT1Mitochondrial complex IV deficiencyARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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AQP2Nephrogenic diabetes insipidusARGeneral Population<1 in 50095%1 in 9,981<1 in 10 million
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Finnish Population1 in 16995%1 in 3,3611 in 2,272,036
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ARAndrogen insensitivity syndromeXLGeneral Population1 in 14,28698%1 in 714,2511 in 1,428,571
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ARG1Arginase deficiencyARGeneral Population1 in 29698%1 in 14,751<1 in 10 million
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ARL13BJoubert syndrome, ARL13B-relatedARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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ARSAMetachromatic leukodystrophyARGeneral Population1 in 10099%1 in 9,9011 in 3,960,400
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Caucasian / European Population1 in 7899%1 in 7,7011 in 2,402,712
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Yemenite Jewish Population1 in 7599%1 in 7,4011 in 2,220,300
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ARSB
Mucopolysaccharidosis type VI (Maroteaux-
ARGeneral Population1 in 25098%1 in 12,451<1 in 10 million
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Lamy syndrome)Western Australian Population1 in 28398%1 in 14,101<1 in 10 million
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ARSE
Chondrodysplasia punctata type 1, X-linked
XLGeneral Population
1 in 250,000
98%
1 in 12,499,951
<1 in 10 million
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ARX
X-linked intellectual disability, ARX-related
XLGeneral Population
<1 in 50,000
99%
1 in 4,999,901
<1 in 10 million
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ASLArgininosuccinate lyase deficiencyARGeneral Population1 in 13290%1 in 1,3111 in 692,208
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ASNSAsparagine synthetase deficiencyARGeneral Population<1 in 50099%1 in 49,901<1 in 10 million
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Iranian Jewish Population1 in 8099%1 in 7,9011 in 2,528,320
100
ASPACanavan diseaseARGeneral Population1 in 30097%1 in 9,968<1 in 10 million