A Pattern Analysis of Gene Conversion Literature

Table 5

Gene Conversion Diseases/Disorders Part 2.

Disease/Disorder	Gene 1	Gene 2	Pseudogene?	Papers
Hereditary Neuropathy with liability to Pressure Palsies	N/A	N/A	N/A	2
Charcot-Marie-Tooth disease type 1A	N/A	N/A	N/A	3
Polycistic Kidney Disease	PKD1	N/A	Yes	3
Autosomal dominant facioscapulohumeral muscular dystrophy	N/A	N/A	N/A	2
Breast Cancer	BRCA1	BRCA2	No	1
Hereditary Pancreatitis	PRSS1	R122H	No	5
non-Hodgkin’s Lymphoma	D6S347	N/A	N/A	1
Spinocerebellar ataxia type 8	N/A	N/A	N/A	2
Neural Tube Defects	N/A	N/A	Yes	1
Friedreich’s ataxia	N/A	N/A	N/A	1
Pseudoxanthoma elasticum	ABCC6	psiABCC6	Yes (psiABCC6)	1
Incontinentia pigmenti	NEMO/LAGE2	N/A	N/A	1
Schwachman Diamond Syndrome	SBDS	SBDSP	Yes (SBDSP)	6
Hypergonadotrophic Hypogonadism	FSHR	N/A	N/A	1
Smith-Magenis Syndrome	N/A	N/A	N/A	1
Human Male Infertility	DAZ genes	N/A	N/A	2
Hemophilia A	F8	N/A	N/A	1
Chronic Pancreatitis	PRSS1	PRSS2	No	1
Campomelic dysplasia	SOX9	N/A	N/A	1
Machado-Joseph Disease	MJD/SCA3	N/A	N/A	2
Sodium-sensitive cardiac hypertrophy	CYPB112	N/A	N/A	1
Obesity	HTR2C	N/A	N/A	1
Velo-cardio-facial syndrome/DiGeorge syndrome	LCR22-2	LCR22-4	No	1
Hereditary Nonpolyposis Colorectal Cancer	MLH1	MSH2	No	1
Atypical Hemolytic Uremic Syndrome	CFH	CFH1	No	1
Pyridoxine-responsive Homocystinuria	CBS	N/A	N/A	1
Autosomal Dominant Cataract	CRYBB2	CRYBB2P1	Yes (CRYBB2P1)	1

In this table we list the diseases and disorders associated with gene conversions. In addition, we list the genes involved where applicable (listed here as Gene 1 and Gene 2) as well as whether one was a pseudogene (and listing which is if this information was available). Finally, we list the number of abstracts that dealt with the disease/disorder.