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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