View diseases

42 entries on 1 page. Showing entries 1 - 42.

ID     

AscendingAbbreviation     

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