New & Updated Pages
New Pages
September 20, 2016
- EARS2 gene
- leukoencephalopathy with thalamus and brainstem involvement and high lactate
- Liebenberg syndrome
- PITX1 gene
September 13, 2016
- autosomal dominant leukodystrophy with autonomic disease
- Dupuytren contracture
- familial partial lipodystrophy
- FOXP2 gene
- FOXP2-related speech and language disorder
- LMNB1 gene
September 8, 2016
August 30, 2016
August 23, 2016
August 2, 2016
- acute necrotizing encephalopathy type 1
- congenital nephrotic syndrome
- lateral meningocele syndrome
- NPHS1 gene
- NPHS2 gene
- RANBP2 gene
July 26, 2016
July 19, 2016
July 4, 2016
June 28, 2016
June 20, 2016
May 30, 2016
May 24, 2016
May 9, 2016
May 2, 2016
April 19, 2016
April 11, 2016
- Blood group antigens
- Collagen proteoglycans
- Complement
- cryptogenic cirrhosis
- Cytochrome p450
- Endogenous ligands
- fibrochondrogenesis
- Gene Families
- Homeoboxes
- Human leukocyte antigens
- Keratins
- Mitochondrial respiratory chain complex
- Myosins
- Transfer RNAs
March 14, 2016
March 7, 2016
February 22, 2016
February 15, 2016
February 8, 2016
February 1, 2016
January 25, 2016
January 18, 2016
December 28, 2015
December 21, 2015
December 14, 2015
December 7, 2015
- 3MC syndrome
- C8A gene
- C8B gene
- COLEC11 gene
- complement component 8 deficiency
- DOORS syndrome
- hepatic lipase deficiency
- hereditary xanthinuria
- LIPC gene
- MASP1 gene
- MOCOS gene
- TBC1D24 gene
- XDH gene
November 18, 2015
- DLL4 gene
- DSC2 gene
- DSP gene
- Is hair texture determined by genetics?
- JUP gene
- KANK2 gene
- keratoderma with woolly hair
November 9, 2015
- 5q minus syndrome
- AFF4 gene
- CHOPS syndrome
- deafness and myopia syndrome
- MIR145 gene
- MIR146A gene
- RPS14 gene
- SLITRK6 gene
October 19, 2015
- atopic dermatitis
- autosomal recessive hyper-IgE syndrome
- collagen VI-related myopathy
- DOCK8 gene
- FLG gene
October 12, 2015
October 5, 2015
Updated Pages
September 20, 2016
September 13, 2016
September 8, 2016
August 30, 2016
August 23, 2016
August 16, 2016
August 9, 2016
- EDN3 gene
- EDNRB gene
- epidermal nevus
- FGFR3 gene
- GAN gene
- giant axonal neuropathy
- HRAS gene
- MITF gene
- PAX3 gene
- SNAI2 gene
- SOX10 gene
- Waardenburg syndrome
August 2, 2016
- abdominal wall defect
- adult polyglucosan body disease
- Klippel-Trenaunay syndrome
- NOTCH3 gene
- PIK3CA gene
July 26, 2016
July 19, 2016
July 12, 2016
- adenosine monophosphate deaminase deficiency
- AMPD1 gene
- hereditary hemorrhagic telangiectasia
- hereditary neuropathy with liability to pressure palsies
- PMP22 gene
- Sjögren syndrome
June 28, 2016
June 20, 2016
- BRAF gene
- DLL3 gene
- MAP2K1 gene
- MESP2 gene
- Noonan syndrome with multiple lentigines
- spondylocostal dysostosis
- spondylothoracic dysostosis
June 13, 2016
June 6, 2016
- CDH23 gene
- CLRN1 gene
- Cockayne syndrome
- ERCC6 gene
- ERCC8 gene
- Ewing sarcoma
- Friedreich ataxia
- Leigh syndrome
- mitochondrial DNA
- MT-ATP6 gene
- MYO7A gene
- SURF1 gene
- surfactant dysfunction
- USH2A gene
- Usher syndrome
May 30, 2016
- common variable immune deficiency
- KRAS gene
- Noonan syndrome
- PTPN11 gene
- RAF1 gene
- SOS1 gene
- TNFRSF13B gene
May 24, 2016
- C10orf2 gene
- chromosome 14
- Hutchinson-Gilford progeria syndrome
- otospondylomegaepiphyseal dysplasia
- progressive external ophthalmoplegia
- Shprintzen-Goldberg syndrome
- SLC25A4 gene
- Weissenbacher-Zweymüller syndrome
May 9, 2016
May 2, 2016
- ACTA1 gene
- congenital fiber-type disproportion
- mycosis fungoides
- RYR1 gene
- TPM3 gene
- X-linked severe combined immunodeficiency
April 25, 2016
April 19, 2016
- ALS2 gene
- antiphospholipid syndrome
- chromosome 7
- infantile-onset ascending hereditary spastic paralysis
April 11, 2016
- COL11A1 gene
- COL11A2 gene
- Moebius syndrome
- Poland syndrome
- spondyloepiphyseal dysplasia congenita
- tetrasomy 18p
March 28, 2016
March 21, 2016
March 14, 2016
- ALX4 gene
- enlarged parietal foramina
- MSX2 gene
- Pendred syndrome
- pseudohypoaldosteronism type 2
- SLC26A4 gene
- WNK1 gene
- WNK4 gene
March 7, 2016
February 29, 2016
February 22, 2016
- Coffin-Lowry syndrome
- erythromelalgia
- IDH1 gene
- IDH2 gene
- Maffucci syndrome
- MECP2-related severe neonatal encephalopathy
February 15, 2016
February 8, 2016
February 1, 2016
- GJB2 gene
- GJB6 gene
- KCNQ4 gene
- mitochondrial DNA
- nonsyndromic hearing loss
- Pompe disease
- POU3F4 gene
- riboflavin transporter deficiency neuronopathy
- SLC52A3 gene
- STRC gene
- TECTA gene
January 18, 2016
- AGPAT2 gene
- BMPR2 gene
- BSCL2 gene
- chronic granulomatous disease
- congenital generalized lipodystrophy
- Kleefstra syndrome
- pulmonary arterial hypertension
January 11, 2016
December 28, 2015
December 21, 2015
December 14, 2015
- AGXT gene
- ataxia with vitamin E deficiency
- C3 gene
- C3 glomerulopathy
- CFH gene
- CFHR5 gene
- GRHPR gene
- primary hyperoxaluria
December 7, 2015
November 23, 2015
November 18, 2015
- 5q minus syndrome
- Adams-Oliver syndrome
- ADAMTS2 gene
- ARHGAP31 gene
- arterial tortuosity syndrome
- BIN1 gene
- carnitine-acylcarnitine translocase deficiency
- chromosome 5
- COL1A1 gene
- COL1A2 gene
- COL3A1 gene
- COL5A1 gene
- COL5A2 gene
- DNM2 gene
- DOCK6 gene
- Ehlers-Danlos syndrome
- EOGT gene
- MIR145 gene
- MIR146A gene
- NOTCH1 gene
- PLOD1 gene
- RBPJ gene
- RPS14 gene
- TNXB gene
- TTN gene
November 2, 2015
October 26, 2015
October 19, 2015
- autosomal dominant hyper-IgE syndrome
- COL6A1 gene
- COL6A2 gene
- COL6A3 gene
- Dandy-Walker malformation
- multiple sclerosis
- STAT3 gene
- ulcerative colitis
