Table 5

Phenotypes associated with QTLs mapped to 6 genes identified

Gene(s) (chromosome band)

OMIM phenotype (OMIM number)

Phenotypes for rat QTL from RGD

Phenotypes for mouse QTL from MGI


PAK7,

C20orf103 (20p12.2)

Body mass index(608559),

Atopic dermatitis(605804),

Systemic lupus erythematosus(610065),

Glaucoma(608696),

Alzheimer disease(607116)

Blood pressure, Body weight,

Cardiac mass, Stress response,

Non-insulin dependent diabetes mellitu, Renal disease susceptibility, Thymus enlargement suppressive

Blood glucose level,

Type 2 diabetes mellitus,

Bone mineral density, Crescentic glomerulonephritis, Modifier of retinal degeneration


NRIP1 (21q11.2)

Myeloproliferative syndrome(159595)

Narcolepsy(609039), Autism(610838)

Testicular tumor resistance


BCL2 (18q21.33)

Orthostatic hypotensive disorder

(143850), Insulin-dependent diabetes mellitus(601941), Amyotrophic lateral sclerosis(606640)

Blood pressure, Cardiac cell morphology, Insulin dependent diabetes mellitus, Renal function

Bone mineral density


TRPM3

(9q21.11

-9q21.13)

Hematocrit/hemoglobin quantitative trait(609320), Cataract(605749),

Pelvic organ prolapse(613088),

Deafness (chromosome 9q21.11 duplication syndrome)(613558),

Epilepsy(611631), paraplegia(607152), Otosclerosis(612096), Spastic

Amyotrophic lateral sclerosis(105550)

Blood pressure, Body weight,

Heart rate, Stress response, Cardiac mass, Glucose level, Lipid level,

Renal function, Kidney mass, Renin concentration,

Thyroid stimulating hormone level,

Abnormal inflammatory response,

Hepatocarcinoma susceptibility,

Atherosclerosis,

Bone mechanical trait,

Autoimmune aoritis,

Cataract severity


NAV1

(1q32.1)

Inflammatory bowel disease(612381),

Pseudohypoaldosteronism(145260),

Parkinson disease(613164),

Glomerulopathy(601894)

Blood pressure, Cardiac mass,

Stress response, Renal function,

Thymus enlargement,

Abnormal inflammatory response

Crescentic glomerulonephritis,

Bone mineral density


Phenotypes associated with QTLs were extracted from Phenotype and Disease Association tracks in UCSC genome browser. Phenotypes for OMIM, rat QTL, mouse QTL corresponded to OMIM phenotype loci, RGD RAT QTL and MGI Mouse QTL tracks respectively.

Park et al. BMC Systems Biology 2011 5(Suppl 2):S13   doi:10.1186/1752-0509-5-S2-S13

Open Data