| ABCA1 heterozygous |
ABC1 (2) |
2 |
| Abetalipoproteinemia |
MTP (2) |
2 |
| Acromesomelic dysplasia |
NPR2 (1) |
1 |
| Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) |
|
1 |
| Adrenoleukodystrophy (ALD) |
|
1 |
| Adult-onset Still’s disease (AOSD) |
|
1 |
| Age-related macular degeneration (AMD) |
|
121 |
| Aicardi syndrome |
|
1 |
| Alexander disease |
GFAP (3) |
6 |
| Allergic granulomatous angiitis |
|
1 |
| Alzheimer's disease (AD) |
APOE (10), APOE4 (3), APP (4), C9ORF (1), CD33 (2), MAPT (2), PSEN1 (14), PSEN2 (1), TBK1 (1), TREM2 (3) |
180 |
| Alzheimer's disease (AD) (Gene-edited) |
APP (6), PSEN1 (8) |
14 |
| Alzheimer's disease (AD) (familial) |
APP (3), APPV7171 (4), PSEN1 (1), PSEN2 (1) |
11 |
| Amyotrophic lateral sclerosis (ALS) |
ASYMPTOMATIC C9ORF72 CARRIER (1), C9ORF72 (46), FIG4 (1), FUS (3), SETX (1), SETX, SOD1 (1), SOD1 (36), SOD1 > D90A (1), TARDBP (5), VCP (1) |
532 |
| Anemia (phenotype) |
|
1 |
| Angelman syndrome |
UBE3A (2) |
10 |
| Aplastic anemia |
|
3 |
| Arrhythmogenic right ventricular cardiomyopathy |
|
2 |
| Arteriolosclerosis |
|
2 |
| Associated pulmonary arterial hypertension |
|
18 |
| Ataxia-telangiectasia |
|
3 |
| Atrial fibrillation |
|
14 |
| Atrial tachycardia |
|
1 |
| Autism spectrum disorder (ASD) |
|
110 |
| Autoimmune hemolytic anemia (AHA) / Idiopathic warm (AHA) |
|
1 |
| Bardet-biedl syndrome |
|
22 |
| Batten disease (cln3) |
CLN3 (23) |
23 |
| Batten disease (cln6) |
|
8 |
| Behçet’s disease |
|
2 |
| Beta thalassemia |
HBB (2) |
2 |
| Bethlem myopathy |
|
2 |
| Bilateral frontoparietal polymicrogyria |
GPR56 (1) |
1 |
| Bipolar disorder |
|
30 |
| Blinding eye disease |
|
18 |
| Borderline NASH (fatty liver disease) |
|
2 |
| Breast cancer |
BRCA1 (3) |
3 |
| Brugada syndrome |
|
6 |
| Buerger’s disease |
|
1 |
| Cardiomyopathy |
|
48 |
| Carpal tunnel syndrome |
|
18 |
| Catecholaminergic polymorphic ventricular tachycardia |
RYR2 (2) |
2 |
| Ccanavan Disease |
ASPA (1) |
1 |
| Cchoroideremia (CHM) |
CHM (1), NGLY1 (1) |
4 |
| Cerebral creatine deficiency syndrome 1 (CCDS1) |
SLC6A8 (1) |
1 |
| Cerebral palsy (CP) |
|
19 |
| Cerebrovascular disease |
|
4 |
| Ceroid lipofuscinosis |
CHM (1), CLN2 (1) |
2 |
| Charcot-Marie-Tooth disease |
FIG4 (1), MFN2 (10), MPZ (2), PMP22 (7), VCP (1) |
22 |
| Chromosome 16p11.2 deletion syndrome |
|
5 |
| Chronic inflammatory demyelinating polyneuropathy (CIDP) |
|
2 |
| Chronic myeloid leukemia |
|
1 |
| Congenital disorder of deglycosylation (CDDG) |
CFTR (1) |
1 |
| Congenital heart block |
|
2 |
| Congenital ichthyosis / Ichthyosis syndrome |
|
1 |
| Congenital insensitivity to pain with anhidrosis (CIPA) |
|
2 |
| Congenital myasthenic syndrome |
GFPT1 (1) |
7 |
| Congenital myopathy |
MTM11 (1) |
1 |
| Control |
C9ORF72 (5), CCR5 (1), GFAP CORRECTED (2), HBB (1), HD (5), HNF1A (1), MECP2 (2), NGN2 (2), SNCA (1), SOD1 > D90A CORRECTED (1), TAF1 VARIANT CORRECTED (4) |
25 |
| Coronary artery disease |
|
43 |
| Corticobasal degeneration (CBD） |
|
1 |
| Crohn's disease |
|
3 |
| Crow‐Fukase syndrome |
|
2 |
| Cystic Fibrosis (CF) |
DMPK (1) |
1 |
| Cystinosis |
|
1 |
| DMD |
DMD (5) |
5 |
| DMRV / GNE myopathy |
|
2 |
| Danon disease |
|
1 |
| Definite NASH (fatty liver disease) |
|
32 |
| Diabetes |
HNF1A (2) |
3 |
| Diabetes mellitus |
|
60 |
| Diabetes mellitus type II |
|
12 |
| Diabetes type I |
|
21 |
| Diabetes type II |
|
95 |
| Diabetes type unknown |
|
4 |
| Diabetic retinopathy (DR) |
|
32 |
| Diamond-Blackfan anemia |
|
1 |
| Dilated cardiomyopathy (DCM) |
|
303 |
| Distal Myopathy |
|
3 |
| Down syndrome |
47,XX,+21 (4), 47,XY,+21 (3) |
8 |
| Dravet syndrome |
SCN1A (11) |
11 |
| Drug-induced liver injury (DILI) |
|
4 |
| Duchenne Muscular dystrophy (DMD) |
DMD (1) |
2 |
| Dystrophia myotonica 1 (DM1) |
DMPK (1) |
1 |
| Ehlers-Danlos syndrome |
COL3A1 (1) |
2 |
| Eosinophilic granulomatosis with polyangiitis (EGPA) |
|
1 |
| Eosinophilic sinusitis |
|
1 |
| Epidermolysis bullosa |
|
1 |
| Epilepsy |
ALG13 (1), GABRA1 (1), KCNC1 (1), PCDH19 (2), SCN2A (1) |
57 |
| Fabry disease |
|
3 |
| Facioscapulohumeral muscular dystrophy 1 (FSHD1) |
LRIF1 (1) |
6 |
| Familial Mediterranean fever |
|
1 |
| Fatty liver disease - steatosis (not NASH) |
|
2 |
| Focal cortical dysplasia (FCD) |
|
2 |
| Focal segmental glomerulosclerosis |
|
20 |
| Fragile X syndrome |
FMR1 (4) |
4 |
| Friedreich ataxia 1 (FRDA) |
FXN (2) |
2 |
| Frontotemporal degeneration |
C9ORF72 (4), GRN (4), MAPT (10), PGRN (2), VCP (1) |
25 |
| Frontotemporal dementia (FTD) |
C9ORF72 (6), MAPT (15) |
30 |
| Frontotemporal lobar degeneration (FTLD) |
|
2 |
| GM1-gangliosidosis |
|
1 |
| Galactosialidosis |
|
1 |
| Gaucher disease |
GBA (1) |
2 |
| Giant cell arteritis (GCA) |
|
2 |
| Glaucoma |
|
20 |
| Glut1 deficiency syndrome 1 (Glut1DS1) |
SLC2A1 (1) |
1 |
| Glycogen storage disease / GSD type V (muscle glycogen phosphorylase deficiency) |
|
1 |
| Glycosylphosphatidylinositol(GPI) anchor deficiency |
|
3 |
| Granulomatosis with polyangiitis (GPA) |
|
1 |
| Hemiconvulsion-hemiplegia-epilepsy syndrome |
|
2 |
| Hemimegalencephaly |
|
1 |
| Hepatitis C (HCV) |
|
91 |
| Hereditary dystonia |
|
1 |
| Homozygous familial hypercholesterolemia |
LDLR (6) |
6 |
| Hunter syndrome |
|
2 |
| Huntington's disease (HD) |
HD (14), HTT (36), IT15 (1), SMN1 (1) |
58 |
| Hurler syndrome |
IDUA (1) |
1 |
| Hutchinson-gilford progeria syndrome (HGPS) |
|
2 |
| Hyperalphalipoproteinemia |
SR-BI (2) |
2 |
| Hypertrophic cardiomyopathy |
TNNT2 (1) |
83 |
| Idiopathic aplastic anemia |
|
1 |
| Idiopathic pulmonary arterial hypertension |
|
16 |
| Idiopathic pulmonary fibrosis (IPF) |
|
182 |
| Idiopathic thrombocytopenic purpura |
|
1 |
| IgG4-related disease |
|
1 |
| IgG4-related thyroid disease |
|
1 |
| Inappropriate sinus tachycardia |
|
1 |
| Infantile neuroaxonal dystrophy (INAD) |
PLA2G6 (5) |
5 |
| Intellectual disability (ID) |
|
60 |
| Interstitial lung disease |
|
1 |
| Isaacs syndrome |
|
1 |
| Isogenic control |
|
3 |
| Kearns-sayre syndrome (KSS) |
|
1 |
| Keratoconus |
|
2 |
| Krabbe disease |
GALC (1) |
1 |
| Landau-Kleffner syndrome |
|
1 |
| Left ventricular hypertrophy |
|
15 |
| Left ventricular non-compaction cardiomyopathy |
|
10 |
| Lennox-Gastaut syndrome (LGS) |
|
2 |
| Lesch-nyhan syndrome (LNS) |
HPRT1 (1) |
1 |
| Lewy body dementia |
|
8 |
| Lewy body dementia (LBD) |
|
1 |
| Limb-girdle muscular dystrophy |
DYSF (5) |
5 |
| Limb-girdle muscular dystrophy (LGMD2b) |
DYSF (15) |
15 |
| Lissencephaly |
DCX (1) |
1 |
| Long QT syndrome |
|
3 |
| Long QT syndrome (familial) |
|
13 |
| Long QT syndrome 1 (LQT1) |
|
3 |
| Long QT syndrome 2 (LQT2) |
KCNH2 (1) |
1 |
| Long QT syndrome 3 (LQT3) |
SCN5A (1) |
1 |
| MELAS |
|
1 |
| Malignant rheumatoid arthritis (MRA) |
|
1 |
| Mental illness |
DISC1 EXON 8 WILD-TYPE (2) |
2 |
| Mental retardation |
CHAMP1 (2), SYNGAP1 (1) |
3 |
| Mesial temporal lobe epilepsy with hippocampal sclerosis |
|
2 |
| Microscopic polyangiitis (MPA) |
|
1 |
| Migraine disorder |
MAJOR CHR17 AMPLIFCATION; MINOR CHR7 DELETION (1) |
28 |
| Mild left ventricular hypertrophy |
|
1 |
| Miller-dieker lissencephaly syndrome (MDLS) |
|
1 |
| Mitochondrial diseases |
|
1 |
| Mixed Connective-Tissue Disease (MCTD) |
|
1 |
| Monogenic diabetes |
|
13 |
| Mortor dominant |
|
1 |
| Moyamoya disease |
|
3 |
| Mucopolysaccharidosis (MPS) |
SGSH (1) |
3 |
| Multifocal motor neuropathy (MMN) |
|
1 |
| Multiple sclerosis (MS) |
|
4 |
| Multiple system atrophy (MSA) |
|
6 |
| Muro disease (Kii ALS/PDC) |
|
3 |
| Muscular dystrophy |
DMD (5), LAMA2 (1), POMT2 (1) |
9 |
| Myasthenia Gravis (MG) |
|
1 |
| Myocardial infarction |
|
18 |
| Myoclonic epilepsy |
CHD2 (1) |
1 |
| Myotonic dystrophy |
CNBP (4), DMPK (1) |
9 |
| Nescav syndrome |
KIF1A (5) |
6 |
| Neurodegeneration with brain iron accumulation 5 (NBIA5) |
WDR45 (1) |
1 |
| Neurodevelopmental disorder |
DHPS (1) |
1 |
| Neuroferritinopathy |
|
1 |
| Neurofibromatosis type1 (NF1) |
|
1 |
| Neurofibromatosis type2 (NF2) |
|
1 |
| Neuromyelitis Optica |
|
4 |
| Neuromyelitis Optica Spectrum Disorders (NMOSD) |
|
1 |
| Neuronal migration disorder |
PIK3R2 (1) |
3 |
| Neuropathy |
GARS (2), SCN9A (6) |
39 |
| Niemann-pick disease |
NPC1 (1), SMPD1 (3) |
5 |
| Non-als motor neurone disease |
|
1 |
| Ohtahara syndrome |
STXBP1 (1) |
1 |
| Ornithine transcarbamylase deficiency (OTCD) |
|
1 |
| Osteogenesis imperfecta type iv (OI4) |
COL1A2 (1) |
1 |
| PACS1 (Schuurs-Hoeijmakers) syndrome |
PACS1 (2) |
2 |
| Pain agnosia |
SCN11A (2) |
2 |
| Parkinsonism |
GBA (2), LRRK2 (6), MAPT (1), PARK2 (4), PINK1 (1), SNCA (3) |
26 |
| Parkinson’s disease (PD) |
GBA (18), LRRK2 (8), SNCA (9) |
99 |
| Paroxysmal nocturnal hemoglobinuria (PNH) |
|
1 |
| Pemphigoid (including epidermolysis bullosa acquisita) |
|
2 |
| Pemphigus |
|
2 |
| Periodic paralysis |
|
1 |
| Phenylketonuria |
PAH PAH (1) |
2 |
| Pick's disease |
|
1 |
| Pitt-hopkins syndrome (PTHS) |
TCF4 (1) |
1 |
| Polyarteritis nodosa (PAN) |
|
2 |
| Polymicrogyria |
|
1 |
| Pompe’s disease (adult type) |
|
1 |
| Primary antiphospholipid syndrome |
|
2 |
| Primary erythromelalgia |
SCN9A (2) |
4 |
| Primary immunodeficiency syndrome |
|
3 |
| Primary lateral sclerosis (PLS) |
|
7 |
| Primary open angle (POAG) |
|
20 |
| Primary progressive aphasia (PPA) |
|
1 |
| Progressive multifocal leukoencephalopathy (PML) |
|
1 |
| Progressive supranuclea palsy (PSP) |
|
1 |
| Prolonged QT interval |
|
6 |
| Pulmonary arterial hypertension |
ALK1 (2), BMPR2 (4) |
6 |
| Pulmonary atresia |
|
1 |
| Pustular psoriasis |
|
1 |
| Pyogenic sterile arthritis / Pyoderma gangrenosum and acne syndrome |
|
1 |
| Rasmussen encephalitis |
|
2 |
| Relapsing polychondritis (RP) |
|
1 |
| Resolved systolic anterior motion |
|
1 |
| Restrictive cardiomyopathy |
|
1 |
| Retinitis pigmentosa |
|
5 |
| Rett syndrome |
FOXG1 (5), MECP2 (6), SHANK3 (1) |
15 |
| Right ventricular outflow tract premature ventricular contractions |
|
2 |
| Ring chromosome 20 syndrome |
|
2 |
| Sanfilippo syndrome / MPS IIIC (acetyl-CoA:heparan-α-Ｄ-glucosaminide N-acetyltransferase deficiency) |
|
1 |
| Schizophrenia |
|
4 |
| Semantic Dementia |
|
2 |
| Severe combined immunodeficiency |
ADA (2) |
2 |
| Sickle cell anemia |
HBB (55) |
55 |
| Sjögren’s syndrome |
|
1 |
| Skeletal displasia |
|
4 |
| Small atrial septal defect |
|
1 |
| Smith-magenis syndrome (SMS) |
|
1 |
| Spinal muscular atrophy |
SMN1 (14) |
18 |
| Spinal-Bulbar Muscular Atrophy (SBMA) |
|
10 |
| Spinocerebellar Degeneration |
|
14 |
| Spinocerebellar ataxia type 1 |
|
2 |
| Spinocerebellar ataxia type 3 |
ATXN3 (4) |
4 |
| Spondylometaphyseal displasia |
|
2 |
| Stevens-Johnson syndrome (SJS) |
|
1 |
| Sturge-Weber syndrome |
|
1 |
| Subacute sclerosing panencephalitis (SSPE) |
|
2 |
| Syringomyelia |
|
1 |
| Systemic amyloidosis |
|
2 |
| TNF receptor-associated periodic syndrome |
|
1 |
| Takayasu arteritis |
|
3 |
| Tangier disease |
ABC1 (2), ABCA1 (4) |
6 |
| Tay-sachs disease (TSD) |
HEXA (1) |
1 |
| Thrombotic thrombocytopenic purpura (TTP) |
|
1 |
| Tricuspid atresia |
|
1 |
| Tuberous sclerosis |
TSC2 (2) |
3 |
| Ventricular tachycardia |
|
5 |
| Vertebrobasilar insufficiency(VBI) |
|
1 |
| Vici syndrome (VICIS) |
EPG5 (1) |
1 |
| Werner syndrome |
|
1 |
| West syndrome |
|
1 |
| Wilson’s disease |
|
4 |
| Wolfram syndrome |
|
1 |
| Wolman disease |
|
1 |
| X-linked creatine transporter deficiency |
|
1 |
| X-linked dystonia Parkinsonism |
TAF1 VARIANT (34) |
34 |
| Xeroderma pigmentosum |
|
2 |
