All diseases

25 entries on 1 page. Showing entries 1 - 25.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00593 - RIDDLE syndrome 611943 - 0 0 RNF168 - -
00723 - neurofibromatosis, familial spinal 162210 - 0 0 NF1 - -
01005 - melanoma, desmoplastic neurotrophic - - 0 0 NF1 - -
01364 - Hepatic adenomas, familial 142330 - 0 0 HNF1A - -
00139 ID intellectual disability (ID) - - 1411 1150 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 526 more - -
00150 IDDM diabetes mellitus, insulin-dependent (IDDM) 222100 - 8 8 FOXP3, HNF1A, IL6, ITPR3, OAS1, PTPN22 - -
03143 IDDM-20 diabetes mellitus, insulin-dependent, type 20 (IDDM-20) 612520 - 0 0 HNF1A - -
00704 JMML;CMML leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML)) 607785 - 120 120 ARHGAP26, EZH2, MLLT11, NF1, PTPN11 - -
05452 MC3DN mitochondrial complex III deficiency, nuclear (MC3DN)] - - 4 4 BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ - -
04094 MC3DN-7 mitochondrial complex III deficiency, nuclear type 7 (MC3DN-7) 615824 - 0 0 MNF1 - -
00722 MMFD macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD) 614192 - 9 9 RNF135 - -
02303 MODY-3 diabetes of the young, maturity-onset, type 3 (MODY-3) 600496 - 2 2 HNF1A - -
00515 NF neurofibromatosis (NF) - - 360 358 NF1, NF2 - -
00439 NF-1 neurofibromatosis, type 1 (NF-1) 162200 - 3736 3646 NF1 - -
00724 NFNS neurofibromatosis-Noonan syndrome (NFNS) 601321 - 0 0 NF1 - -
00960 NGPS syndrome, progeria, Nestor-Guillermo (NGPS) 614008 - 2 2 BANF1 - -
00151 NIDDM diabetes mellitus, noninsulin-dependent (NIDDM) 125853 - 8 7 ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
03504 OI-6 osteogenesis imperfecta, type VI (OI-6) 613982 - 0 0 SERPINF1 - -
03859 PAPA-6 polydactyly, postaxial, type A6 (PAPA-6) 615226 - 1 1 ZNF141 - autosomal recessive
01348 RCAD;MODY-5 renal cysts and diabetes syndrome (RCAD, maturity-onset diabetes of the young, type 5 (MODY-5)) 137920 - 219 219 HNF1B - -
01382 RCC carcinoma, renal cell, nonpapillary (RCC) 144700 - 2 1 DIRC2, FLCN, HNF1A, HNF1B, OGG1, RNF139, VHL - -
02808 SNAX-1 ataxia, sensory, type 1, autosomal dominant (SNAX-1) 608984 - 0 0 RNF170 - -
04647 TNORS Tenorio syndrome (TNORS) 616260 - 0 0 RNF125 - -
04326 TTD-5 trichothiodystrophy, type 5, nonphotosensitive (TTD-5) 300953 - 3 1 RNF113A - X-linked dominant
00725 Watson Watson syndrome 193520 - 0 0 NF1 - -
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