|
|
 ID
|
 Abbreviation
|
Name
|
OMIM ID
|
Individuals
|
Phenotypes
|
Associated with genes
|
| 00033 |
a-THAL |
ALPHA-THALASSEMIA |
604131 |
0 |
0 |
HBA1, HBA2 |
| 00034 |
ACH |
ACHONDROPLASIA |
100800 |
0 |
0 |
FGFR3 |
| 00032 |
b-THAL |
BETA-THALASSEMIA |
613985 |
0 |
0 |
HBB |
| 00055 |
BLAUS |
BLAU SYNDROME |
186580 |
0 |
0 |
NOD2 |
| 00028 |
BREAST CANCER |
BREAST CANCER, FAMILIAL |
114480 |
0 |
0 |
ATM, BRCA2, BRIP1, CDH1, CHEK2, FANCM, PALB2, TP53 |
| 00002 |
BROVCA1 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 |
604370 |
0 |
0 |
BRCA1 |
| 00011 |
BROVCA2 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 |
612555 |
0 |
0 |
BRCA2 |
| 00012 |
BROVCA3 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 |
613399 |
0 |
0 |
RAD51C |
| 00013 |
BROVCA4 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 |
614291 |
0 |
0 |
RAD51D |
| 00030 |
CAH1 |
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
201910 |
0 |
0 |
CYP21A2 |
| 00004 |
CF |
CYSTIC FIBROSIS |
219700 |
0 |
0 |
CFTR |
| 00037 |
CWS2 |
COWDEN SYNDROME 2 |
612359 |
0 |
0 |
SDHB |
| 00031 |
DFNB1A |
DEAFNESS, AUTOSOMAL RECESSIVE 1A |
220290 |
0 |
0 |
GJB2 |
| 00059 |
EDSCL2 |
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 |
130010 |
0 |
0 |
COL5A2 |
| 00052 |
FANCA |
FANCONI ANEMIA, COMPLEMENTATION GROUP A |
227650 |
0 |
0 |
FANCA |
| 00027 |
FANCN |
FANCONI ANEMIA, COMPLEMENTATION GROUP N |
610832 |
0 |
0 |
PALB2 |
| 00049 |
FAP2 |
FAMILIAL ADENOMATOUS POLYPOSIS 2 |
608456 |
0 |
0 |
MUTYH |
| 00026 |
FD |
FABRY DISEASE |
301500 |
0 |
0 |
GLA |
| 00025 |
FMF |
FAMILIAL MEDITERRANEAN FEVER |
249100 |
0 |
0 |
MEFV |
| 00044 |
GC |
Gastric cancer, familial diffuse, with or without cleft lip and/or palate |
137215 |
0 |
0 |
CDH1 |
| 00038 |
GIST |
GASTROINTESTINAL STROMAL TUMOR |
606764 |
0 |
0 |
SDHB |
| 00035 |
HCH |
HYPOCHONDROPLASIA |
146000 |
0 |
0 |
FGFR3 |
| 00005 |
HNPCC1 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1 |
120435 |
0 |
0 |
MSH2 |
| 00008 |
HNPCC2 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 |
609310 |
0 |
0 |
MLH1 |
| 00010 |
HNPCC4 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 |
614337 |
0 |
0 |
PMS2 |
| 00009 |
HNPCC5 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 |
614350 |
0 |
0 |
MSH6 |
| 00043 |
HPRCC |
Renal cell carcinoma, papillary, 1, familial and somatic |
605074 |
0 |
0 |
MET |
| 00022 |
ISS |
SHORT STATURE, IDIOPATHIC, X-LINKED |
300582 |
0 |
0 |
SHOX |
| 00021 |
LFS1 |
LI-FRAUMENI SYNDROME 1 |
151623 |
0 |
0 |
TP53 |
| 00058 |
MFS1 |
MARFAN SYNDROME, TYPE I |
154700 |
0 |
0 |
FBN1 |
| 00023 |
MJD |
MACHADO-JOSEPH DISEASE |
109150 |
0 |
0 |
ATXN3 |
| 00056 |
MJDS |
MAJEED SYNDROME |
609628 |
0 |
0 |
LPIN2 |
| 00048 |
MODY 11 |
Maturity-onset diabetes of the young, type 11 |
613375 |
0 |
0 |
BLK |
| 00047 |
MODY 9 |
Maturity-onset diabetes of the young, type IX |
612225 |
0 |
0 |
PAX4 |
| 00014 |
MODY1 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 |
125850 |
0 |
0 |
HNF4A |
| 00003 |
MODY2 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 |
125851 |
0 |
0 |
GCK |
| 00007 |
MODY3 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 |
600496 |
0 |
0 |
HNF1A |
| 00015 |
MODY5 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5 |
137920 |
0 |
0 |
HNF1B |
| 00046 |
MODY6 |
Maturity-onset diabetes of the young 6 |
606394 |
0 |
0 |
NEUROD1 |
| 00054 |
MODY8 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8 |
609812 |
0 |
0 |
CEL |
| 00042 |
NF1 |
NEUROFIBROMATOSIS, TYPE I; NF1 |
162200 |
0 |
0 |
NF1 |
| 00051 |
NIDDM |
DIABETES MELLITUS, NONINSULIN-DEPENDENT |
125853 |
0 |
0 |
ABCC8 |
| 00016 |
NS1 |
NOONAN SYNDROME 1 |
163950 |
0 |
0 |
PTPN11 |
| 00053 |
NS3 |
Noonan syndrome 3 |
609942 |
0 |
0 |
KRAS |
| 00036 |
PA, ACTH |
Pituitary adenoma, ACTH-secreting |
219090 |
0 |
0 |
AIP |
| 00006 |
PCTT |
PANCREATITIS, HEREDITARY |
167800 |
0 |
0 |
CFTR, PRSS1, SPINK1 |
| 00041 |
PCZ |
PHEOCHROMOCYTOMA |
171300 |
0 |
0 |
SDHB |
| 00040 |
PGL4 |
PARAGANGLIOMAS 4 |
115310 |
0 |
0 |
SDHB |
| 00039 |
PGSS |
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA |
606864 |
0 |
0 |
SDHB |
| 00045 |
PJS |
PEUTZ-JEGHERS SYNDROME |
175200 |
0 |
0 |
STK11 |
| 00029 |
PNCA3 |
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 |
613348 |
0 |
0 |
PALB2 |
| 00019 |
RTT |
RETT SYNDROME |
312750 |
0 |
0 |
MECP2 |
| 00017 |
THPH3 |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT |
176860 |
0 |
0 |
PROC |
| 00018 |
THPH5 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT |
612336 |
0 |
0 |
PROS1 |
| 00050 |
TPDS |
TUMOR PREDISPOSITION SYNDROME |
614327 |
0 |
0 |
BAP1 |
| 00020 |
WD |
WILSON DISEASE |
277900 |
0 |
0 |
ATP7B |
| 00057 |
YAOS |
YAO SYNDROME |
617321 |
0 |
0 |
NOD2 |
|
|
