|
|
 ID
|
 Abbreviation
|
Name
|
OMIM ID
|
Individuals
|
Phenotypes
|
Associated with genes
|
| 00012 |
CAN |
CANCER |
- |
1 |
1 |
- |
| 00006 |
CAN-BDC |
BILE DUCT CANCER |
- |
0 |
0 |
- |
| 00013 |
CAN-BRCA |
BREAST CANCER FAMILIAL |
114479 |
2 |
2 |
BRCA1, BRCA2 |
| 00002 |
CAN-COL |
COLON CANCER |
- |
23 |
23 |
MLH1, MSH2, MSH6, PMS2 |
| 00003 |
CAN-END |
ENDOMETRIAL CANCER |
- |
3 |
3 |
- |
| 00014 |
CAN-FAP1 |
FAMLILIAL ADENOMATOUS POLYPOSIS 1 |
175100 |
0 |
0 |
APC |
| 00007 |
CAN-GAS |
GASTRIC CANCER |
- |
0 |
0 |
- |
| 00015 |
CAN-LFS1 |
LI-FRAUMENI SYNDROME 1 |
151623 |
0 |
0 |
TP53 |
| 00011 |
CAN-LYNCH |
LYNCH SYNDROME |
120435 |
24 |
0 |
MLH1, MSH2, MSH6, PMS2 |
| 00016 |
CAN-MEN1 |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I |
131100 |
0 |
0 |
MEN1 |
| 00004 |
CAN-OVA |
OVARIAN CANCER |
- |
0 |
0 |
- |
| 00009 |
CAN-PAN |
PANCREATIC CANCER |
- |
0 |
0 |
- |
| 00010 |
CAN-PRO |
PROSTATE CANCER |
- |
0 |
0 |
- |
| 00001 |
CAN-RB1 |
RETINOBLASTOMA |
180200 |
1 |
169 |
RB1 |
| 00008 |
CAN-SBC |
SMALL BOWEL CANCER |
- |
0 |
0 |
- |
| 00005 |
CAN-URO |
UROTHELIAL CANCER |
- |
0 |
0 |
- |
| 00017 |
CAR |
CARDIOVASCULAR DISEASE |
- |
0 |
0 |
- |
| 00018 |
CAR-CADASIL |
CADASIL |
125310 |
0 |
0 |
NOTCH3 |
| 00019 |
END |
ENDOCRINE/METABOLIC DISEASE |
- |
0 |
0 |
- |
| 00020 |
END-CF |
CYSTIC FIBROSIS |
219700 |
0 |
0 |
CFTR |
| 00021 |
END-IGHD1A |
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA |
262400 |
0 |
0 |
GH1 |
| 00022 |
END-WD |
WILSON DISEASE |
277900 |
0 |
0 |
ATP7B |
| 00023 |
HEM |
HEMATOLOGICAL DISEASE |
- |
0 |
0 |
- |
| 00024 |
HEM-HEMA |
HEMOPHILIA A |
306700 |
0 |
0 |
- |
| 00025 |
HEM-HEMB |
HEMOPHILIA B |
306900 |
0 |
0 |
- |
| 00026 |
KID |
KIDNEY DISEASE |
- |
0 |
0 |
- |
| 00027 |
KID-BSND |
BARTTER SYNDROME |
602522 |
0 |
0 |
BSND |
| 00028 |
KID-OCRL |
LOWE OCULOCEREBRORENAL SYNDROME |
309000 |
0 |
0 |
OCRL |
| 00029 |
NEU |
NEUROLOGICAL DISEASE |
- |
0 |
0 |
- |
| 00030 |
NEU-ALD |
ADRENOLEUKODYSTROPHY |
300100 |
0 |
0 |
ABCD1 |
| 00031 |
NEU-CMTX0 |
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT 0 |
302799 |
0 |
0 |
MPZ |
| 00032 |
NEU-CMTX1 |
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT 1 |
302800 |
0 |
0 |
GJB1 |
| 00033 |
NEU-CTX |
CEREBROTENDINOUS XANTHOMATOSIS |
213700 |
0 |
0 |
CYP27A1 |
| 00034 |
NEU-DMD |
DUCHENNE MUSCULAR DYSTROPHY |
310200 |
0 |
0 |
DMD |
| 00035 |
NEU-NF1 |
NEUROFIBROMATOSIS, TYPE I |
162200 |
0 |
0 |
NF1 |
| 00036 |
NEU-PARK2 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
600116 |
0 |
0 |
PARK2 |
| 00037 |
NEU-RTT |
RETT SYNDROME |
312750 |
0 |
0 |
MECP2 |
| 00038 |
NEU-SPG4 |
SPASTIC PARAPLEGIA 4 |
182601 |
0 |
0 |
SPAST |
| 00039 |
SEN |
SENSORIAL DISEASE |
- |
0 |
0 |
- |
| 00040 |
SEN-DFNB1A |
DEAFNESS, AUTOSOMAL RECESSIVE 1A |
220290 |
0 |
0 |
GJB2 |
| 00041 |
SEN-RP3 |
RETINITIS PIGMENTOSA 3 |
300029 |
0 |
0 |
RPGR |
| 00042 |
SEN-RS1 |
RETINOSCHISIS 1, X-LINKED JUVENILE |
312700 |
0 |
0 |
RS1 |
|
|
