Systemic/Other

Disease	Protein	BMRB entry
Autosomal Dominant Polycystic Kidney Disease	EF-hand domain of Human Polycystin 2	17621
Axenfeld-Rieger Syndrome	Pituitary homeobox protein 2	18015
Bloom Syndrome	Regulatory HRDC domain from Bloom syndrome protein	16766
Cleft Lip/Palate	Human Copper transporter 1	18408 18409 18410
DiGeorge Syndrome	DiGeorge Critical Region 8	17773
Menkes Syndrome	ATPase 7A	6130 6480 6481 6482 6483 7068 7069
Nonsyndromic Deafness	LCCL Domain of deafness autosomal dominant type 9	5047
Noonan Syndrome	KRas171	17785
Short Bowel Syndrome	Glucagon-like peptide-2	17297
Werner Syndrome	C30S/C59S-Cox17 mutant	17821
	HRDC domain from Werner syndrome protein	11252
	Rad51D	16996
	Werner syndrome protein	6540