neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)

protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)

melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)

survival of motor neuron 1, telomeric

lamin A/C

SIX homeobox 3

huntingtin

dystrophia myotonica-protein kinase

sal-like 4 (Drosophila)

myogenic factor 6 (herculin)

Factor VIII

hemochromatosis

hemoglobin, beta

fragile X mental retardation 1

glucosidase, beta; acid (includes glucosylceramidase)

fibrillin 1

Fibroblast growth factor receptor-3 gene

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

coagulation factor V (proaccelerin, labile factor)

glyoxalase I

Fas (TNF receptor superfamily, member 6)

polycystic kidney disease 1 (autosomal dominant)

BRCA1 interacting protein C-terminal helicase 1

myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)

Ras association (RalGDS/AF-6) domain family member 1

catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)

nucleotide-binding oligomerization domain containing 2

transforming growth factor, beta 1

Amyloid precursor protein

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

iduronidase, alpha-L-

myocilin, trabecular meshwork inducible glucocorticoid response

interleukin 2 receptor

T-box 1

hexosaminidase A

Mediterranean fever(MEFV)

low density lipoprotein receptor adaptor protein 1

von Hippel-Lindau tumor suppressor

aspartoacylase

glial fibrillary acidic protein