| Diagnosis | Omim Number | Sample Count |
| ADENOCARCINOMA OF THE ENDOMETRIUM | | 1 |
| ALZHEIMER DISEASE, FAMILIAL, TYPE 3 | 607822 | 171 |
| ALZHEIMER DISEASE, FAMILIAL, TYPE 4 | 606889 | 7 |
| ALZHEIMER DISEASE; AD | 104300 | 356 |
| ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC | | 5 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 13 | | 2 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18 | | 4 |
| ATAXIA-TELANGIECTASIA; AT | 208900 | 8 |
| BLOOM SYNDROME; BLM | 210900 | 1 |
| CANCER OF THE BREAST, FAMILIAL; BCS | 114480 | 4 |
| COCKAYNE SYNDROME TYPE A - 216400 | 216400 | 24 |
| COCKAYNE SYNDROME TYPE UNSPECIFIED | | 4 |
| COCKAYNE SYNDROME, TYPE A; CSA | 216400 | 1 |
| CYSTIC FIBROSIS; CF | 219700 | 1 |
| DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM | 222100 | 2 |
| DIABETES MELLITUS: MATURITY ONSET DIABETES - 222100 OR 125850 | | 10 |
| DYSKERATOSIS CONGENITA, X-LINKED; DKC | 305000 | 3 |
| DYSTROPHIA MYOTONICA 1; DM1 | 160900 | 1 |
| GERSTMANN-STRAUSSLER DISEASE; GSD | 137440 | 1 |
| HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS | 176670 | 49 |
| MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA | 248370 | 1 |
| MULIBREY NANISM | 253250 | 3 |
| PARKINSON DISEASE | 168600 | 13 |
| PICK DISEASE OF BRAIN | 172700 | 1 |
| PROGERIA, ADULT ONSET | | 3 |
| PROGEROID SYNDROME, NEONATAL | 264090 | 3 |
| PROSTATE CANCER | 176807 | 3 |
| ROTHMUND-THOMSON SYNDROME; RTS | 268400 | 18 |
| SEIP SYNDROME | 269700 | 1 |
| TRISOMY 21 | 190685 | 41 |
| WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED | 277700 | 28 |
| WOUND HEALING DISORDER | | 1 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | 278700 | 3 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 278720 | 8 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | 278780 | 2 |
| XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | 278750 | 2 |
| XERODERMA PIGMENTOSUM: COMPLEMENTATION GROUP UNDETERMINED | | 20 |