View Active Gene-Disease pairs Showing 50 of 83 topics
Syndrome
Genes
Last Updated
Status
Acute Intermittent Porphyria
HMBS
Thu, 15 Feb 2018
Released
Adrenoleukodystrophy
ABCD1
Wed, 07 Mar 2018
Released
Adult‑onset type II citrullinemia
SLC25A13
Thu, 11 Jan 2018
Released
Alpha-1 Antitrypsin Deficiency
SERPINA1
Wed, 02 May 2018
Released
Arrhythmogenic Right Ventricular Dysplasia
PKP2, DSP, DSC2, TMEM43, DSG2
Mon, 23 Oct 2017
Released
Arterial tortuosity syndrome
SLC2A10
Mon, 19 Feb 2018
Released
Autosomal Dominant Polycystic Kidney Disease
PKD1, PKD2
Mon, 23 Oct 2017
Released
Basal Cell Nevus Syndrome (BCNS)
PTCH1
Thu, 15 Feb 2018
Released
Biotinidase Deficiency
BTD
Thu, 11 Jan 2018
Released
Birt-Hogg-Dubé syndrome
FLCN
Thu, 11 Jan 2018
Released
Breast Cancer
ATM, CHEK2
Mon, 30 Oct 2017
Released
Brugada Syndrome
SCN5A
Thu, 11 Jan 2018
Released
Catecholaminergic Polymorphic Ventricular Tachycardia
RYR2
Thu, 11 Jan 2018
Released
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1
NOTCH3
Wed, 10 Jan 2018
Released
Cerebral cavernous malformations 1, 2, and 3
KRIT1, CCM2, PDCD10
Fri, 08 Sep 2017
Released
Charcot - Marie - Tooth Disease, Type 1
PMP22, MPZ, LITAF, EGR2, NEFL
Mon, 05 Feb 2018
Released
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy
DNM2
Mon, 05 Feb 2018
Released
Dilated cardiomyopathy
DMD, LMNA, TNNT2
Tue, 09 Jan 2018
Released
Dopa-Responsive Dystonia
GCH1
Thu, 11 Jan 2018
Released
Ehlers-Danlos Syndrome Type IV
COL3A1
Thu, 11 Jan 2018
Released
Ehlers-Danlos syndrome, classic type
COL5A1, COL5A2
Thu, 11 Jan 2018
Released
Emery-Dreifuss Muscular Dystrophy (AD, XL)
LMNA, EMD, FHL1
Mon, 09 Apr 2018
Released
F5: Factor V deficiency (AR)
F5
Mon, 02 Apr 2018
Released
Fabry Disease
GLA
Mon, 18 Jun 2018
Released
Factor V Leiden, Heterozygous
F5
Mon, 09 Apr 2018
Released
Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A)
F5
Mon, 09 Apr 2018
Released
Factor XI Deficiency
F11
Thu, 20 Sep 2018
In Preparation
Familial Adenomatous Polyposis
APC
Tue, 21 Aug 2018
Released
Familial Hypertrophic Cardiomyopathy
ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
Thu, 11 Jan 2018
Released
Familial Mediterranean Fever (AD)
MEFV
Thu, 11 Jan 2018
Released
Familial Mediterranean Fever (AR)
MEFV
Thu, 11 Jan 2018
Released
Familial papillary renal cell carcinoma 1
MET
Wed, 10 Jan 2018
Released
Familial thoracic aortic aneurysms and dissections (FTAAD)
FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
Thu, 11 Jan 2018
Released
Gaucher Disease
GBA
Thu, 11 Jan 2018
Released
Glutaric Acidemia I
GCDH
Mon, 20 Nov 2017
Released
Glycogen Storage Disease 2
GAA
Wed, 10 Jan 2018
Released
Glycogen Storage Disease V
PYGM
Thu, 11 Jan 2018
Released
Hemochromatosis, Type 1
HFE
Thu, 11 Jan 2018
Released
Hemophilia A and B
F8, F9
Thu, 11 Jan 2018
Released
Hereditary Breast and Ovarian Cancer
BRCA1, BRCA2
Mon, 09 Apr 2018
Released
Hereditary Diffuse Gastric Cancer
CDH1
Thu, 11 Jan 2018
Released
Hereditary Hemorrhagic Telangiectasia
ENG, ACVRL1, SMAD4, GDF2
Fri, 12 Jan 2018
Released
Hereditary Leiomyomatosis and Renal Cell Cancer
FH
Fri, 12 Jan 2018
Released
Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Mon, 04 Jun 2018
Released
Hereditary transthyretin-related amyloidosis
TTR
Sat, 09 Dec 2017
Released
Heterozygous Familial Hypercholesterolemia
LDLR, APOB, PCSK9
Mon, 21 May 2018
Released
Homocystinuria due to Cystathionine Beta-Synthase Deficiency
CBS
Thu, 11 Jan 2018
Released
Homozygous Familial Hypercholesterolemia
LDLR, APOB, PCSK9
Mon, 21 May 2018
Released
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP21A2
Tue, 17 Jul 2018
Released
Hyperparathyroidism 2 - HPRT2
CDC73
Thu, 11 Jan 2018
Released
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