Disorders in FINDbase:
Data was compiled from the following disorders:

disorder	gene
21-Hydroxylase deficiency	CYP21
22q11.2 micro-deletion
Achondroplasia	FGFR3
Alpha-thalassemia	HBA2,HBA1
Alpha1-antitrypsin deficiency	PI
APOE
Beta-thalassemia	HBB
Cystic Fibrosis	b
Cystic Fibrosis	CFTR
Cystinuria	SLC3A1
Delta-thalassemia	HBD
Familial Mediterranean Fever	MEFV
Familiar hypercholesterolemia	LDLR
Familiar Mediterranean Fever	MEFV
Fragile X syndrome	FMR1
Gilbert syndrome	UGT1A1
Glycose-6P-Dehydrogenase deficiency	G6PD
GM1 gangliosidosis type I	GLB1
Hemochromatosis	HFE
Huntington disease	IT15
Non-syndromic sensorineural deafness	GJB2
Oculocutaneous albinism	TYR
Phenylketonuria	PAH
Prader Willi/Angelman
Retinoblastoma
Sandhoff disease	PAH
Sensorineural deafness	GJB2
Subtelomeric Rearrangements
Venous thrombosis	Factor V
Venous thrombosis	Prothrombin
Williams-Beuren Syndrome
Wilson Disease	ATP7B
X-Linked Ichthyosis
Y-linked Spermatogenic Failure	AZF