Systemic / Other Diseases

Disease	Protein	BMRB entry
3-M syndrome	Obscurin-like protein 1	18511 18563
Agammaglobulinemia	Tyrosine-protein kinase Tec	18526
Asthma	Eosinophil cationic protein - trisaccharide heparin mimetic complex	18596
Ataxia telangiectasia	Tumor protein P53-binding protein 1	18579
Autosomal Dominant Polycystic Kidney Disease	EF-hand domain of Human Polycystin 2	17621
Axenfeld-Rieger syndrome	Pituitary homeobox protein 2	18015
Bloom syndrome	Rad51D	16996
	Regulatory HRDC domain from Bloom syndrome protein	16766
Brain Ischemia	Postsynaptic density protein 95	18516
Cataracts	P23T mutant of gamma-D crystallin	16173
Cervicitis	GPVI mimetic	18538
Complement component 7 deficiency	Complement control protein modules of human C7	18530
Costello syndrome	H-Ras-GppNHp bound to Ras-binding domain of cRaf1	18461
	H-Ras-GppNHp complex	18479
DiGeorge syndrome	DiGeorge Critical Region 8	17773
Familial Adenomatous Polyposis	CH domain of End-binding protein 1	18348 18371
Glaucoma	Optineurin Zinc-finger domain	18195
Menkes syndrome	ATPase 7A	6130 6480 6481 6482 6483 7068 7069
	C30S/C59S-Cox17 mutant	17821
Mitochondrial disease	NFU-1 iron sulfur cluster scaffold homolog	18489
Muckle-Wells syndrome	Pyrin domain of ASC with NLRP3 protein	18608
Nodular regenerative hyperplasia	Zinc finger protein Kaiso	18630 18631
Nonsyndromic Deafness	LCCL domain of deafness autosomal dominant type 9	5047
Obesity	Melanocortin receptor 4 agonist	18536
Oculodentodigital dysplasia	Connexin 43	18552
Polycystic Kidney disease	Polycystin-2	18268
Renal disease	Bromodomain containing 4	18439
Retinal degeneration	Guanylyl cyclase activating protein 1	18026
Short Bowel Syndrome	Glucagon-like peptide-2	17297
Staphyloenterotoxemia	Epha4 receptor	18613
Usher's syndrome	Cadherin 23	18441
	Harmonin	18441
Werner syndrome	HRDC domain from Werner syndrome protein	11252
	Werner syndrome protein	6540

Associated Human Genes

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