All diseases

28 entries on 1 page. Showing entries 1 - 28.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00593 - RIDDLE syndrome 611943 AR 4 5 RNF168 - -
01005 - melanoma, desmoplastic neurotrophic - - 0 0 NF1 - -
01364 - hepatic adenoma, somatic 142330 - 0 0 HNF1A - -
06586 EIEE73 Epileptic encephalopathy, early infantile, 73 618379 AD 0 0 RNF13 - -
00723 FSNF neurofibromatosis, familial spinal 162210 AD 0 0 NF1 - -
00139 ID intellectual disability (ID) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
00150 IDDM diabetes mellitus, insulin-dependent (IDDM) 222100 AR 8 8 FOXP3, HNF1A, IL6, INS, ITPR3, OAS1, PTPN22 - -
03143 IDDM20 diabetes mellitus, insulin-dependent, type 20 (IDDM-20) 612520 - 0 0 HNF1A - -
00704 JMML;CMML leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML)) 607785 AD;SMu 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 MC3DN7 mitochondrial complex III deficiency, nuclear type 7 (MC3DN-7) 615824 AR 1 1 MNF1 - -
00722 MMFD macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD) 614192 - 9 9 RNF135 - -
02303 MODY3 diabetes of the young, maturity-onset, type 3 (MODY-3) 600496 AD 3 3 HNF1A - -
06485 NEDISHM Neurodevelopmental disorder with impaired speech and hyperkinetic movements 618425 AR 0 0 ZNF142 - -
00515 NF neurofibromatosis (NF) - - 547 347 NF1, NF2 - -
00439 NF1 neurofibromatosis, type 1 (NF1) 162200 AD 3895 3709 NF1 - -
00724 NFNS neurofibromatosis-Noonan syndrome (NFNS) 601321 AD 1 1 NF1 - -
00960 NGPS progeria syndrome, Nestor-Guillermo (NGPS) 614008 AR 2 2 BANF1 - -
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 - -
05296 OI osteogenesis imperfecta (OI) - AD 4234 1117 BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, MBTPS2, MESDC2, P3H1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 - -
03504 OI6 osteogenesis imperfecta, type VI (OI6) 613982 AR 2 2 SERPINF1 - -
03859 PAPA6 polydactyly, postaxial, type A6 (PAPA-6) 615226 AR 1 1 ZNF141 - autosomal recessive
01348 RCAD;MODY5 renal cysts and diabetes syndrome (RCAD, maturity-onset diabetes of the young, type 5 (MODY-5)) 137920 AD 219 219 HNF1B - -
01382 RCC carcinoma, renal cell, nonpapillary (RCC) 144700 - 2 1 DIRC2, FLCN, HNF1A, HNF1B, OGG1, RNF139, VHL - -
02808 SNAX1 ataxia, sensory, type 1, autosomal dominant (SNAX-1) 608984 AD 0 0 RNF170 - -
04647 TNORS Tenorio syndrome (TNORS) 616260 AD 0 0 RNF125 - -
04326 TTD5 trichothiodystrophy, type 5, nonphotosensitive (TTD-5) 300953 XLD 3 1 RNF113A - X-linked dominant
00725 WTSN Watson syndrome 193520 AD 0 0 NF1 - -
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