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Disease Catalogue

ADNP Syndrome

Genes/ Stimuli:

ADNP

Abdominal Aortic Aneurysm

Genes/ Stimuli:

klf2a, angptl

Abetalipoproteinemia

Genes/ Stimuli:

MTTP

Absence Seizure

Genes/ Stimuli:

gabra1

Achondroplasia

Genes/ Stimuli:

FGFR3

Acoustic Neuroma

Genes/ Stimuli:

nf2a / nf2b

Acromegaly

Genes/ Stimuli:

gh1, igf1, igf1r

Acute Coronary Syndrome

Genes/ Stimuli:

chemical endothelial damage

Acute Hepatic Porphyria (AHP)

Genes/ Stimuli:

alas1

Acute Lymphoblastic Leukemia (ALL)

Genes/ Stimuli:

rag2-mMyc

Acute Myeloid Leukemia (AML)

Genes/ Stimuli:

AML1-ETO

Acute Respiratory Failure

Genes/ Stimuli:

vhl, egln1

Adnexal Tumors

Genes/ Stimuli:

HRAS / KRAS oncogene

Adolescent Idiopathic Scoliosis

Genes/ Stimuli:

ptk7, ccdc40

Adrenomyeloneuropathy

Genes/ Stimuli:

abcd1 knockdown

Age-related Macular Degeneration (AMD)

Genes/ Stimuli:

WRN

Alagille Syndrome

Genes/ Stimuli:

JAG1

Alcoholic Fatty Liver Disease

Genes/ Stimuli:

ethanol exposure

Alcoholic Hepatitis

Genes/ Stimuli:

Chronic ethanol exposure

Alexander Disease

Genes/ Stimuli:

GFAP

Allan-Herndon-Dudley syndrome

Genes/ Stimuli:

SLC16A2

Allergic Rhinitis

Genes/ Stimuli:

rag1

Alpers' Disease

Genes/ Stimuli:

POLG

Alpers' Syndrome

Genes/ Stimuli:

POLG

Alpers-Huttenlocher Syndrome

Genes/ Stimuli:

POLG1

Alpha-1-Antitrypsin Deficiency

Genes/ Stimuli:

A1AT

Alstrom Syndrome

Genes/ Stimuli:

ALMS1

Alternating Hemiplegia

Genes/ Stimuli:

ATP1A3

Alternating Hemiplegia of Childhood

Genes/ Stimuli:

ATP1A3

Alzheimer’s Disease (AD)

Genes/ Stimuli:

appb

Amnesia

Genes/ Stimuli:

MK-801

Amyloid Polyneuropathy

Genes/ Stimuli:

ttr

Amyotrophic Lateral Sclerosis (ALS)

Genes/ Stimuli:

sod1

Anophthalmia

Genes/ Stimuli:

SOX2

Anorexia Nervosa

Genes/ Stimuli:

lepa and lepr

Antisynthetase Syndrome

Genes/ Stimuli:

HLA‑8.1

Anxiety Disorders

Genes/ Stimuli:

Serotonin transporters

Aphasia

Genes/ Stimuli:

GRN

Arnold–Chiari Malformation Type II

Genes/ Stimuli:

VANGL1

Aromatic L-Amino Acid Decarboxylase Deficiency

Genes/ Stimuli:

DDC

Arteriosclerosis

Genes/ Stimuli:

apoea, apobb

Asperger Syndrome

Genes/ Stimuli:

GABRB3

Ataxia Telangiectasia

Genes/ Stimuli:

ATM

Atopic Dermatitis

Genes/ Stimuli:

spink5

Atrial Fibrillation

Genes/ Stimuli:

scn5a, kcnh2

Attention-Deficit/Hyperactivity Disorder (ADHD)

Genes/ Stimuli:

per1b mutant

Atypical Hemolytic Uremic Syndrome

Genes/ Stimuli:

CFH

Atypical Uremic Syndrome

Genes/ Stimuli:

MCP

Autism Spectrum Disorder (ASD)

Genes/ Stimuli:

SHANK3

Autoimmune Encephalitis

Genes/ Stimuli:

grin1 / grin2A knockdown

Autoimmune Hepatitis (AIH)

Genes/ Stimuli:

LPS + sensitizer

Autonomic Dysreflexia

Genes/ Stimuli:

ret, phox2b

Avascular Necrosis

Genes/ Stimuli:

Glucocorticoid-Induced

Avian Influenza

Genes/ Stimuli:

H5N1

B-cell Lymphoma

Genes/ Stimuli:

MYC, BCL6

Bardet-Biedl Syndrome

Genes/ Stimuli:

BBS1

Basal Cell Carcinoma

Genes/ Stimuli:

ptch1

Basal Joint Arthritis

Genes/ Stimuli:

Cartilage injury models

Batten Disease

Genes/ Stimuli:

cln3

Beckwith-Wiedemann Syndrome

Genes/ Stimuli:

CDKN1C

Behcet's Disease

Genes/ Stimuli:

HLA-B51

Benign Intracranial Hypertension

Genes/ Stimuli:

ptprz1, ccdc88c

Best Disease (Vitelliform Dystrophy)

Genes/ Stimuli:

BEST1

Bethlem Myopathy

Genes/ Stimuli:

COL6A1

Bietti Crystalline Dystrophy

Genes/ Stimuli:

CYP4V2

Biliary Atresia

Genes/ Stimuli:

GPC1

Birdshot Chorioretinopathy

Genes/ Stimuli:

ERAP1

Bladder Dysfunction

Genes/ Stimuli:

lhx1a, pax2a

Blau Syndrome

Genes/ Stimuli:

NOD2

Bloom Syndrome

Genes/ Stimuli:

BLM

Bradycardia

Genes/ Stimuli:

hcn4, scn5a

Bronchitis

Genes/ Stimuli:

Cigarette smoke extract exposure

Brugada Syndrome

Genes/ Stimuli:

SCN5A

Burkitt Lymphoma

Genes/ Stimuli:

Myc-overexpression

CANDLE Syndrome

Genes/ Stimuli:

PSMB8

Calciphylaxis

Genes/ Stimuli:

vascular calcification

Canavan Disease

Genes/ Stimuli:

ASPA

Cataracts

Genes/ Stimuli:

cryaa, crybb1

Cavernous Hemangioma

Genes/ Stimuli:

ccm1, ccm2

Central Nervous System (CNS) Tumors

Genes/ Stimuli:

tp53

Cerebral Creatine Deficiency Syndrome 1

Genes/ Stimuli:

SLC6A8

Cerebral Creatine Deficiency Syndrome 2

Genes/ Stimuli:

GAMT

Cerebral Palsy

Genes/ Stimuli:

NSRP1

Cerebrotendinous Xanthomatosis

Genes/ Stimuli:

CYP27A1

Cervical Spinal Stenosis

Genes/ Stimuli:

col11a2, bmp

Charcot–Marie–Tooth Disease Type 2

Genes/ Stimuli:

MFN2

Chediak–Higashi Syndrome

Genes/ Stimuli:

LYST

Christianson Syndrome

Genes/ Stimuli:

SLC9A6

Chronic Fatigue Syndrome

Genes/ Stimuli:

ndufs4, polg

Chronic Inflammatory Demyelinating Polyneuropathy

Genes/ Stimuli:

HLA-DRB1

Chronic Kidney Disease

Genes/ Stimuli:

pkd2

Chronic Lymphocytic Leukemia (CLL)

Genes/ Stimuli:

rag2-EµTCL1

Chronic Myeloid Leukemia (CML)

Genes/ Stimuli:

bcr-abl

Chronic Obstructive Pulmonary Disease (COPD)

Genes/ Stimuli:

igarette smoke extract

Chronic Pain

Genes/ Stimuli:

trpa1b

Chronic Progressive External Ophthalmoplegia

Genes/ Stimuli:

POLG

Chronic Refractory Gout

Genes/ Stimuli:

xanthine oxidase

Chronic Unpredictable Mild Stress

Genes/ Stimuli:

unpredictable stressors over days

Cockayne Syndrome

Genes/ Stimuli:

ERCC6

Cohen Syndrome

Genes/ Stimuli:

VPS13B

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