| HBA2 |
Alpha thalassemia |
86 |
9.6 |
| HBA |
Alpha thalassemia |
5 |
0.6 |
| HBA1/HBA2 |
Alpha thalassemia |
2 |
0.2 |
| HBA1 |
Alpha thalassemia |
1 |
0.1 |
| SERPINA1 |
Alpha-1 antitrypsin deficiency |
89 |
10.0 |
| CYP21A2 |
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
84 |
9.4 |
| CFTR |
Cystic fibrosis |
65 |
7.3 |
| SMN1 |
Spinal muscular atrophy type 1 |
50 |
5.6 |
| ABCA4 |
Stargardt's disease type 1; cone-rod dystrophy type 3 |
45 |
5.0 |
| GJB2 |
Autosomal recessive non-syndromic sensorineural deafness, type DFNB |
18 |
2.0 |
| G6PD |
Glucose-6-phosphate dehydrogenase deficiency |
17 |
1.9 |
| ATP7B |
Wilson's disease |
16 |
1.8 |
| CBS |
Homocystinuria due to cystathionine beta-synthase deficiency |
14 |
1.6 |
| CFTR |
Bilateral congenital absence of the vas deferens |
13 |
1.5 |
| OCA2 |
Oculocutaneous albinism type 2 |
13 |
1.5 |
| PMM2 |
Congenital disorder of glycosylation type 1a |
13 |
1.5 |
| GAA |
Glycogen storage disease due to acid maltase deficiency (Pompe disease) |
12 |
1.3 |
| ACADM |
Medium-chain acyl-CoA dehydrogenase deficiency |
11 |
1.2 |
| SBDS |
Shwachman-Diamond Syndrome |
11 |
1.2 |
| TYR |
Oculocutaneous albinism type 1A |
11 |
1.2 |
| SLC26A2 |
Atelosteogenesis type 2 |
8 |
0.9 |
| BTD |
Biotinidase deficiency |
7 |
0.8 |
| GALC |
Krabbe disease |
7 |
0.8 |
| HBB |
Sickle cell anemia |
7 |
0.8 |
| ADA |
Severe combined immunodeficiency due to adenosine deaminase (ADA) deficiency |
6 |
0.7 |
| BCHE |
Butyrylcholinesterase deficiency |
6 |
0.7 |
| CLCN1 |
Autosomal recessive myotonia congenita |
6 |
0.7 |
| COL7A1 |
Dystrophic epidermolysis bullosa (EAD) Hallopeau-Siemens (HS) and non-HS type; puriginous EAD; pretibial EDA |
6 |
0.7 |
| GJB2 |
Autosomal recessive hearing loss type 1A; Digenic hearing loss GJB2/GJB6 |
6 |
0.7 |
| HBB |
Beta thalassemia |
6 |
0.7 |
| HEXA |
Tay/Sachs disease |
6 |
0.7 |
| MEFV |
Mediterranean fever |
6 |
0.7 |
| SPG7 |
Autosomal recessive spastic paraplegia type 7 |
6 |
0.7 |
| TMPRSS3 |
Autosomal recessive non-syndromic sensorineural deafness, type DFNB10 |
6 |
0.7 |
| ACADSB |
2-methylbutyryl-CoA dehydrogenase deficiency |
5 |
0.6 |
| DHCR7 |
Smith-Lemli-Opitz syndrome |
5 |
0.6 |
| FIG4 |
Charcot-Marie-Tooth disease type 4J |
5 |
0.6 |
| GBA |
Gaucher disease |
5 |
0.6 |
| GDAP1 |
Charcot-Marie-Tooth disease type 4A |
5 |
0.6 |
| GNPTAB |
Mucolipidosis type 2 alpha/beta; Mucolipidosis type 3 alpha/beta |
5 |
0.6 |
| SMPD1 |
Niemann-Pick disease type A; Niemann-Pick disease type B |
5 |
0.6 |
| ACADS |
Short-chain acyl-CoA dehydrogenase deficiency |
4 |
0.4 |
| CNGB3 |
Acromatopsia 3 |
4 |
0.4 |
| FAH |
Tyrosinemia type 1 |
4 |
0.4 |
| FMR1 |
Fragile X syndrome |
4 |
0.4 |
| GNRHR |
Hypogonadotropic hypogonadism type 7 |
4 |
0.4 |
| HBB |
HBB-related hemoglobinopathies |
4 |
0.4 |
| PAH |
Phenylketonuria |
4 |
0.4 |
| POLR1C |
Treacher Collins syndrome |
4 |
0.4 |
| ALDOB |
Hereditary fructose intolerance |
3 |
0.3 |
| AR |
Partial androgen insensitivity syndrome |
3 |
0.3 |
| ARSA |
Metachromatic leukodystrophy |
3 |
0.3 |
| CAPN3 |
Autosomal recessive limb-girdle muscular dystrophy type 2A |
3 |
0.3 |
| COL4A3 |
Autosomal recessive Alport syndrome |
3 |
0.3 |
| CYP27A1 |
Cerebrotendinous xanthomatosis |
3 |
0.3 |
| DCLRE1C |
Omenn syndrome; Severe combined immunodeficiency Athabaskan type |
3 |
0.3 |
| GALNS |
Mucopolysacchariosis type 4A |
3 |
0.3 |
| OTOF |
Autosomal recessive nonsyndromic sensorineural deafness, type DFNB9 |
3 |
0.3 |
| PKHD1 |
Polycystic kidney disease type 4 |
3 |
0.3 |
| RPGRIP1L |
Joubert syndrome type 7; Meckel syndrome type 5; COACH Syndrome |
3 |
0.3 |
| SLC22A5 |
Systemic primary carnitine deficiency |
3 |
0.3 |
| SPG11 |
Juvenile amyotrophic lateral sclerosis, type 5 |
3 |
0.3 |
| UGT1A1 |
Crigler-Najjar syndrome type 2 |
3 |
0.3 |
| USH2A |
Retinitis pigmentosa 39 |
3 |
0.3 |
| USH2A |
Usher syndrome type 2A |
3 |
0.3 |
| AGL |
Glycogen storage disease type 3 |
2 |
0.2 |
| AIPL1 |
Leber congenital amaurosis 4 |
2 |
0.2 |
| ARSB |
Mucopolysaccharidosis type 6 (Maroteaux-Lamy syndrome) |
2 |
0.2 |
| ASS1 |
Citrullinemia type 1 |
2 |
0.2 |
| CEP290 |
Meckel syndrome type 4; Joubert syndrome type 5; Leber congenital amaurosis type 10 |
2 |
0.2 |
| CHST6 |
Macular corneal dystrophy 1 |
2 |
0.2 |
| CNGB1 |
Retinitis pigmentosa 45 |
2 |
0.2 |
| CPT2 |
Carnitine palmitoyl palmitoyltransferase deficiency type 2, neonatal lethal form; Carnitine palmitoyltransferase deficiency type 2, infantile form |
2 |
0.2 |
| CRB1 |
Autosomal recessive retinitis pigmentosa 12 |
2 |
0.2 |
| CYP1B1 |
Primary congenital glaucoma type 3A |
2 |
0.2 |
| DYSF |
Miyoshi muscular dystrophy type 1; autosomal recessive limb-girdle muscular dystrophy type 2 (LGMD2) |
2 |
0.2 |
| GALE |
Galactose epimerase deficiency |
2 |
0.2 |
| GALT |
Galactosemia |
2 |
0.2 |
| GCDH |
Glutaric acidemia type 1 |
2 |
0.2 |
| HGSNAT |
Mucopolysacchariosis type 3, Sanfilippo Syndrome type C |
2 |
0.2 |
| LOXHD1 |
Autosomal recessive deafness type 77 |
2 |
0.2 |
| MYO15A |
Autosomal recessive deafness type 3 |
2 |
0.2 |
| MYO7A |
Usher syndrome type 1B; autosomal recessive deafness type 2 |
2 |
0.2 |
| NR2E3 |
Enhanced Cone-S syndrome (Goldmann-Favre); Retinitis pigmentosa type 37 |
2 |
0.2 |
| SLC26A4 |
Autosomal recessive deafness type 4; Pendred Syndrome |
2 |
0.2 |
| SLC6A19 |
Hartnup disease |
2 |
0.2 |
| SUMF1 |
Multiple sulfatase deficiency |
2 |
0.2 |
| TRDN |
Catecholaminergic polymorphic ventricular tachycardia 5 |
2 |
0.2 |
| ABCA3 |
Pulmonary surfactant metabolism disfunction type 3 |
1 |
0.1 |
| ACADVL |
Very long chain acyl-CoA dehydrogenase deficiency |
1 |
0.1 |
| ACSF3 |
Combined malonic and methylmalonic acidemia |
1 |
0.1 |
| AHI1 |
Joubert syndrome 3 |
1 |
0.1 |
| AHCY |
Hypermethioninemia with S-adenosyl homocysteine (AdoHcy) hydrolase deficiency |
1 |
0.1 |
| AGXT |
Primary hyperoxaluria type 1 |
1 |
0.1 |
| ALG3 |
Congenital disorder of glycosylation type Id |
1 |
0.1 |
| ALG12 |
Congenital disorder of glycosylation type Ig |
1 |
0.1 |
| ALG1 |
Congenital disorder of glycosylation type 1K |
1 |
0.1 |
| ASL |
Argininosuccinic aciduria |
1 |
0.1 |
| ATM |
Ataxia telangiectasia |
1 |
0.1 |
| CERKL |
Retinitis pigmentosa 26 |
1 |
0.1 |
| CLN3 |
Neuronal ceroid lipofuscinosis type 3 |
1 |
0.1 |
| CTNS |
Nephropathic cystinosis |
1 |
0.1 |
| DBT |
Maple syrup urine disease 2 |
1 |
0.1 |
| DMD |
Duchenne muscular dystrophy |
1 |
0.1 |
| DUOX2 |
Familial thyroid dyshormonogenesis type 6 |
1 |
0.1 |
| DOK7 |
Fetal akinesia deformation sequence type 3; congenital myasthenic syndrome type 10 |
1 |
0.1 |
| DNAH5 |
Primary ciliary dyskinesia type 3 |
1 |
0.1 |
| ETFDH |
Glutaric acidemia 2C |
1 |
0.1 |
| F11 |
Autosomal recessive factor XI deficiency |
1 |
0.1 |
| EIF2B5 |
Leukoencephalopathy with vanishing white matter |
1 |
0.1 |
| EYS |
Retinitis pigmentosa type 25 |
1 |
0.1 |
| FH |
Fumaric aciduria |
1 |
0.1 |
| FANCG |
Fanconi anemia complementation group G |
1 |
0.1 |
| GAMT |
Cerebral creatine deficiency syndrome type 2 |
1 |
0.1 |
| GBE1 |
Glycogen storage disease type 4 |
1 |
0.1 |
| GBBS10 |
Bardet Bieldl syndrome type 1 |
1 |
0.1 |
| GFM1 |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 |
1 |
0.1 |
| GLA |
Fabry disease |
1 |
0.1 |
| HADHA |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase of long-chain fatty acids |
1 |
0.1 |
| GRHPR |
Primary hyperoxaluria type 2 |
1 |
0.1 |
| HDD |
Sickle cell anemia |
1 |
0.1 |
| HOGA1 |
Primary hyperoxaluria type 3 |
1 |
0.1 |
| HEXB |
Sandhoff disease - infantile, juvenile and adult forms |
1 |
0.1 |
| IVD |
Isovaleric acidemia |
1 |
0.1 |
| HPD |
Tyrosinemia type 3 |
1 |
0.1 |
| LHFPL5 |
Autosomal recessive non-syndromic sensorineural deafness, type DFNB67 |
1 |
0.1 |
| IDUA |
Hurler syndrome |
1 |
0.1 |
| MPI |
Congenital disorder of glycosylation type 1b |
1 |
0.1 |
| MMACHC |
Methylmalonic acidemia with homocystinuria type cblC |
1 |
0.1 |
| MVK |
Mevalonic aciduria |
1 |
0.1 |
| MPDU1 |
Congenital disorder of glycosylation 1F |
1 |
0.1 |
| MTHFR |
Homocystinuria due to MTHFR deficiency |
1 |
0.1 |
| NPHP1 |
Nephronophthisis |
1 |
0.1 |
| NLRP7 |
Recurrent hydatidiform mole type 1 |
1 |
0.1 |
| NPC2 |
Niemann-Pick disease type C2 |
1 |
0.1 |
| NPC1 |
Niemann-Pick disease type C1 |
1 |
0.1 |
| PCDH15 |
Usher syndrome type 1F |
1 |
0.1 |
| PEX12 |
Peroxisome biogenesis disorder type 3A (Zellweger spectrum) |
1 |
0.1 |
| PCCA |
Propionic acidemia |
1 |
0.1 |
| POLG |
POLG-realated disorders |
1 |
0.1 |
| RDH12 |
Leber congenital amaurosis 13 |
1 |
0.1 |
| PROP1 |
Panhypopituitarism |
1 |
0.1 |
| RAG2 |
Combined immunodeficiency with skin granulomatosis |
1 |
0.1 |
| RARS2 |
Pontocerebellar hypoplasia type 6 |
1 |
0.1 |
| POMT1 |
Congenital muscular dystrophy-dystroglycanopathy type 1A (Walker/ Warburg syndrome); type 1B; Type 1C (autosomal recessive limb-girdle muscular dystrophy type 11 (LGMD R11) |
1 |
0.1 |
| SAG |
Oguchi disease |
1 |
0.1 |
| SCO2 |
Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase 1 deficiency. |
1 |
0.1 |
| SGSH |
Mucopolysaccharidosis type 3A |
1 |
0.1 |
| SH3TC2 |
Charcot-Marie-Tooth disease type 4C |
1 |
0.1 |
| SGCA |
Autosomal recessive limb-girdle muscular dystrophy type 3 (LGMD R3) |
1 |
0.1 |
| SLC12A3 |
Gitelman syndrome |
1 |
0.1 |
| ST3GAL5 |
Salt and pepper developmental regression syndrome (Amish infantile epileptic syndrome) |
1 |
0.1 |
| TPP1 |
Juvenile neuronal ceroid lipofuscinosis |
1 |
0.1 |
| TREX1 |
Aicardi-Goutieres syndrome type 1 |
1 |
0.1 |
| UGT1A1 |
Crigler-Najjar syndrome type 1 |
1 |
0.1 |