Updated Pages
November 13, 2018
November 6, 2018
October 30, 2018
- Coloboma
- Dupuytren contracture
- Erythrokeratodermia variabilis et progressiva
- Fuchs endothelial dystrophy
- GJA1 gene
- GJB3 gene
- GJB4 gene
- LAMA2-related muscular dystrophy
- Rett syndrome
- Von Hippel-Lindau syndrome
October 23, 2018
- 2q37 deletion syndrome
- Charcot-Marie-Tooth disease
- Chromosome 17
- Congenital bilateral absence of the vas deferens
- Cyclic neutropenia
- GJB1 gene
- KIT gene
- Mevalonate kinase deficiency
- MFN2 gene
- MPZ gene
- PMP22 gene
- RAI1 gene
- SMN1 gene
- SMN2 gene
- Spinal muscular atrophy
October 16, 2018
October 2, 2018
September 25, 2018
September 11, 2018
- Chromosome 2
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- CTNNB1 gene
- CYP2C9 gene
- DCX gene
- Diamond-Blackfan anemia
- H19 gene
- Hereditary myopathy with early respiratory failure
- IGF2 gene
- PAFAH1B1 gene
- RPL5 gene
- RPL11 gene
- RPL35A gene
- RPS10 gene
- RPS17 gene
- RPS19 gene
- RPS24 gene
- RPS26 gene
- TTN gene
- VKORC1 gene
- Warfarin resistance
- Warfarin sensitivity
- WT1 gene
August 28, 2018
August 21, 2018
August 14, 2018
August 7, 2018
July 17, 2018
July 10, 2018
July 3, 2018
June 26, 2018
- 3-M syndrome
- Chromosome 13
- CUL7 gene
- Cytochrome c oxidase deficiency
- Feingold syndrome
- Mitochondrial DNA
- MYCN gene
June 12, 2018
June 5, 2018
May 22, 2018
- DYNC1H1 gene
- GLRA1 gene
- Hereditary hyperekplexia
- Mannose-binding lectin deficiency
- Restless legs syndrome
May 15, 2018
May 8, 2018
- Buschke-Ollendorff syndrome
- EDN3 gene
- EDNRB gene
- Hirschsprung disease
- LEMD3 gene
- MAP2K1 gene
- RET gene
- SMARCA4 gene
- SMARCB1 gene
May 1, 2018
April 11, 2018
- DOORS syndrome
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- VCP gene
April 3, 2018
March 27, 2018
March 20, 2018
March 6, 2018
February 27, 2018
- 47,XYY syndrome
- Hereditary leiomyomatosis and renal cell cancer
- Microcephalic osteodysplastic primordial dwarfism type II
February 20, 2018
- Abetalipoproteinemia
- Arrhythmogenic right ventricular cardiomyopathy
- Epidermolysis bullosa with pyloric atresia
- MTTP gene
- Oculopharyngeal muscular dystrophy
- PABPN1 gene
- PCCA gene
- PCCB gene
- PKP2 gene
- Propionic acidemia
- Schizophrenia
February 13, 2018
- Periventricular heterotopia
- Progressive osseous heteroplasia
- Very long-chain acyl-CoA dehydrogenase deficiency
February 6, 2018
- DVL1 gene
- Glycogen storage disease type VI
- Hashimoto thyroiditis
- Pelizaeus-Merzbacher disease
- Peroxisomal acyl-CoA oxidase deficiency
- PLP1 gene
- Robinow syndrome
- ROR2 gene
- WNT5A gene
January 30, 2018
January 23, 2018
- HSD10 disease
- HSD17B10 gene
- KBG syndrome
- PPM-X syndrome
- Pulmonary alveolar microlithiasis
- SLC34A2 gene
- TRAPPC2 gene
- X-linked spondyloepiphyseal dysplasia tarda
January 9, 2018
January 2, 2018
December 29, 2017
December 19, 2017
December 12, 2017
December 5, 2017
- ADAMTS2 gene
- Aicardi-Goutières syndrome
- ARX gene
- ATG16L1 gene
- Camurati-Engelmann disease
- CDKL5 gene
- COL1A1 gene
- COL1A2 gene
- COL3A1 gene
- COL5A1 gene
- COL5A2 gene
- Crohn disease
- Early infantile epileptic encephalopathy 1
- Ehlers-Danlos syndrome
- IL23R gene
- IRGM gene
- NOD2 gene
- PLOD1 gene
- RNASEH2A gene
- RNASEH2B gene
- RNASEH2C gene
- SAMHD1 gene
- TGFB1 gene
- TNXB gene
- TREX1 gene
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