All diseases

14 entries on 1 page. Showing entries 1 - 14.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00933 - leukemia, acute, lymphoblastic - - 30 30 PTPN11 - -
00908 AML leukemia, myeloid, acute (AML) 601626 - 43 28 CBFB, CEBPA, CHIC2, ETV6, FLT3, GATA2, JAK2, KIT, KRAS, LPP, MLF1, MLLT10, NPM1, NSD1, NUP214, PICALM, PTPN11, RUNX1, SH3GL1, TERT, WHSC1L1 - -
00100 CATLPH atresia, choanal, and lymphedema (CATLPH) 613611 AR - 21 PTPN14 - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
00139 ID intellectual disability (ID) - - 2792 2473 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
00704 JMML;CMML leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML)) 607785 AD;SMu 120 120 ARHGAP26, MLLT11, NF1, PTPN11 - -
00703 LPRD1 LEOPARD syndrome, type 1 (LPRD-1) 151100 AD 1 1 PTPN11 - -
00132 MDS myelodysplastic syndrome (MDS) 614286 SMo 10 13 ASXL1, GATA2, PTPN11, SF3B1, TET2 - -
00705 METCDS metachondromatosis (METCDS) 156250 AD 1 1 PTPN11 - -
05106 MPD myopathy, distal (MPD) - - 168 154 DNAJB4, PTPN11 - -
00151 NIDDM diabetes mellitus, type II (NIDDM) 125853 AD 8 7 ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
00383 NS Noonan syndrome (NS) - - 232 225 BRAF, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, SOS1, SOS2, SPRED2 - autosomal dominant
05441 NS1 Noonan syndrome, type 1 (NS1) 163950 AD 8 8 PTPN11 - autosomal dominant
01545 RMSE2 rhabdomyosarcoma, embryonal, type 2 (RMSE-2) 180295 - 1 - DICER1, PTPN11 - -
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