View Active Gene-Disease pairs Showing 50 of 84 topics
Syndrome
Genes
Last Updated
Status
Acute Intermittent Porphyria
HMBS
Thu, 01 Nov 2018
Released
Adrenoleukodystrophy
ABCD1
Thu, 01 Nov 2018
Released
Adult‑onset type II citrullinemia
SLC25A13
Thu, 01 Nov 2018
Released
Alpha-1 Antitrypsin Deficiency
SERPINA1
Thu, 01 Nov 2018
Released
Arrhythmogenic Right Ventricular Dysplasia
PKP2, DSP, DSC2, TMEM43, DSG2
Thu, 01 Nov 2018
Released
Arterial tortuosity syndrome
SLC2A10
Thu, 01 Nov 2018
Released
Autosomal Dominant Polycystic Kidney Disease
PKD1, PKD2
Thu, 01 Nov 2018
Released
Basal Cell Nevus Syndrome (BCNS)
PTCH1
Thu, 01 Nov 2018
Released
Biotinidase Deficiency
BTD
Thu, 01 Nov 2018
Released
Birt-Hogg-Dubé syndrome
FLCN
Thu, 01 Nov 2018
Released
Breast Cancer
ATM, CHEK2
Thu, 01 Nov 2018
Released
Brugada Syndrome
SCN5A
Thu, 01 Nov 2018
Released
Catecholaminergic Polymorphic Ventricular Tachycardia
RYR2
Thu, 01 Nov 2018
Released
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1
NOTCH3
Thu, 01 Nov 2018
Released
Cerebral cavernous malformations 1, 2, and 3
KRIT1, CCM2, PDCD10
Thu, 01 Nov 2018
Released
Charcot - Marie - Tooth Disease, Type 1
PMP22, MPZ, LITAF, EGR2, NEFL
Thu, 01 Nov 2018
Released
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
DNM2
Thu, 01 Nov 2018
Released
Dilated cardiomyopathy
DMD, LMNA, TNNT2
Thu, 01 Nov 2018
Released
Dopa-Responsive Dystonia
GCH1
Thu, 01 Nov 2018
Released
Ehlers-Danlos Syndrome Type IV
COL3A1
Thu, 01 Nov 2018
Released
Ehlers-Danlos syndrome, classic type
COL5A1, COL5A2
Thu, 01 Nov 2018
Released
Emery-Dreifuss Muscular Dystrophy (AD, XL)
LMNA, EMD, FHL1
Thu, 01 Nov 2018
Released
F5: Factor V deficiency (AR)
F5
Thu, 01 Nov 2018
Released
Fabry Disease
GLA
Thu, 01 Nov 2018
Released
Factor V Leiden, Heterozygous
F5
Thu, 01 Nov 2018
Released
Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A)
F5
Thu, 01 Nov 2018
Released
Factor XI Deficiency
F11
Thu, 01 Nov 2018
Released
Familial Adenomatous Polyposis
APC
Thu, 01 Nov 2018
Released
Familial Hypertrophic Cardiomyopathy
ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
Thu, 01 Nov 2018
Released
Familial Mediterranean Fever (AD)
MEFV
Thu, 01 Nov 2018
Released
Familial Mediterranean Fever (AR)
MEFV
Thu, 01 Nov 2018
Released
Familial papillary renal cell carcinoma 1
MET
Thu, 01 Nov 2018
Released
Familial thoracic aortic aneurysms and dissections (FTAAD)
FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
Thu, 01 Nov 2018
Released
Gaucher Disease
GBA
Thu, 01 Nov 2018
Released
Glutaric Acidemia I
GCDH
Thu, 01 Nov 2018
Released
Glycogen Storage Disease 2
GAA
Thu, 01 Nov 2018
Released
Glycogen Storage Disease V
PYGM
Thu, 01 Nov 2018
Released
Hemochromatosis, Type 1
HFE
Thu, 01 Nov 2018
Released
Hemophilia A and B
F8, F9
Thu, 01 Nov 2018
Released
Hereditary Breast and Ovarian Cancer
BRCA1, BRCA2
Thu, 01 Nov 2018
Released
Hereditary Diffuse Gastric Cancer
CDH1
Thu, 01 Nov 2018
Released
Hereditary Hemorrhagic Telangiectasia
ENG, ACVRL1, SMAD4, GDF2
Thu, 01 Nov 2018
Released
Hereditary Leiomyomatosis and Renal Cell Cancer
FH
Thu, 01 Nov 2018
Released
Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Thu, 01 Nov 2018
Released
Hereditary mixed polyposis syndrome 1
GREM1
Mon, 05 Nov 2018
Released
Hereditary transthyretin-related amyloidosis
TTR
Thu, 01 Nov 2018
Released
Heterozygous Familial Hypercholesterolemia
LDLR, APOB, PCSK9
Thu, 01 Nov 2018
Released
Homocystinuria due to Cystathionine Beta-Synthase Deficiency
CBS
Thu, 01 Nov 2018
Released
Homozygous Familial Hypercholesterolemia
LDLR, APOB, PCSK9
Thu, 01 Nov 2018
Released
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP21A2
Thu, 01 Nov 2018
Released
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