All diseases

61 entries on 1 page. Showing entries 1 - 61.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01162 - Globozoospermia 102530 - - - GOPC, SPATA16 - -
01221 - Hepatocellular carcinoma 114550 - - - APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53 - -
02010 - deficiency, phosphoenolpyruvate carboxykinase, mitochondrial 261650 - - - PCK2 - -
02012 - deficiency, phosphoenolpyruvate carboxykinase, cytosolic 261680 - - - PCK1 - -
02028 - Hyperphenylalaninemia, bh4-deficient, d 264070 - - - PCBD1 - -
02044 - Pyruvate carboxylase deficiency 266150 - - - PC - -
02266 - Spondyloepiphyseal dysplasia tarda 313400 - - - TRAPPC2 - -
02325 - Proprotein convertase 1/3 deficiency 600955 - - - PCSK1 - -
02571 - Propionic acidemia 606054 - - - PCCA, PCCB - -
02804 - Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 - - - PCYT1A - -
03381 - cancer, gastric (Neoplasm of stomach) 613659 - - - APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA - -
03519 - Hepatic lipase deficiency 614025 - - - LIPC - -
03717 - Mitochondrial pyruvate carrier deficiency 614741 - - - MPC1 - -
04132 - ataxia-telangiectasia-like disorder 2 615919 - - - PCNA - -
05062 BBS-15 Bardet-Biedl syndrome?, type 15 (BBS-15) 615992 - - - WDPCP - -
03130 BMIQ-12 body mass index quantitative trait locus 12 (BMIQ-12) 612362 - - - PCSK1 - -
00424 cancer, ovarian cancer, ovarian 167000 - - - AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
05063 CHDTHP heart defects, congential?, hamartomas of tongue, and polysyndactyly (CHDTHP) 217085 - - - WDPCP - -
01226 CMH-4 cardiomyopathy, hypertrophic, familial, type 4 (CMH-4) 115197 - - - MYBPC3 - -
00091 CRC cancer, colorectal (CRC) 114500 - - - AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
03609 DA-1B arthrogryposis, distal, type 1B (DA-1B) 614335 - - - MYBPC1 - -
02398 DFNB-15 deafness, autosomal recessive, type 15 (DFNB-15) 601869 - - - GIPC3 - -
02858 DFNB-23 deafness, autosomal recessive, type 23 (DFNB-23) 609533 - - - PCDH15 - -
03286 DIAR-5 diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5) 613217 - - - EPCAM - -
04503 DYT-2 dystonia, type 2, torsion, autosomal recessive (DYT-2) 224500 - - - HPCA - -
02142 EIEE-9 encephalopathy, epileptic, early infantile, type 9 (EIEE-9) 300088 - - - PCDH19 - -
00312 FAP-1 adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome) 175100 - - - APC - -
02476 FSGS-2 glomerulosclerosis, segmental, focal, type 2 (FSGS-2) 603965 - - - TRPC6 - -
04498 GE blood group, Gerbich (GE) 616089 - - - GYPC - -
01819 GSD-1A storage disease, glycogen, type 1A (GSD-1A) 232200 - - - G6PC - -
00164 HCHOLA-3;LDLCQ-1 hypercholesterolemia, autosomal dominant, type 3 (HCHOLA-3, LDL cholesterol level QTL locus 1 (LDLCQ-1)) 603776 - - - PCSK9 - -
00313 HDD desmoid disease, hereditary (HDD) 135290 - - - APC - -
03192 HDLCQ-12 HDL cholesterol level, quantitative trait locus 12 (HDLCQ-12) 612797 - - - LIPC - -
00513 HNPCC-1;Lynch cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome) 120435 - - - EPCAM, GALNT12, MLH1, MLH3, MSH2, MSH6, PMS2 - -
00520 HNPCC-8 cancer, colorectal, nonpolyposis, hereditary, type 8 (HNPCC-8) 613244 - - - EPCAM - -
02548 HYPT-1 hypotrichosis, type 1 (HYPT-1) 605389 - - - APCDD1 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
01536 IPF fibrosis, pulmonary, idiopathic (IPF) 178500 - - - MUC5B, SFTPA1, SFTPA2, SFTPC - -
03787 LCCS-4 contracture syndrome, lethal, congenital, type 4 (LCCS-4) 614915 - - - MYBPC1 - -
03907 LGMD-2S dystrophy, muscular, limb-girdle, type 2S (LGMD-2S) 615356 - - - TRAPPC11 - -
03924 LVNC-10;CMD-1MM ventricular noncompaction, left, type 10 (LVNC-10, cardiomyopathy, dilated, type 1MM (CMD-1MM)) 615396 - - - MYBPC3 - -
00309 MLRS malaria, susceptibility to, resistance (MLRS) 611162 - - - CD36, CISH, CR1, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF - -
00275 MOPD-2 microcephalic osteodysplastic primordial dwarfism, type II (MOPD-2) 210720 - - - PCNT - -
00801 MRT-13 mental retardation, autosomal recessive, type 13 (MRT-13) 613192 - - - TRAPPC9 - -
00151 NIDDM diabetes mellitus, noninsulin-dependent (NIDDM) 125853 - - - ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
01583 NMTC-1 cancer, thyroid, nonmedullary, type 1 (NMTC-1, papillary thyroid carcinoma) 188550 - - - CCDC6, GOLGA5, NCOA4, NKX2-1, PCM1, PRKAR1A, TRIM24, TRIM33 - -
01975 NPC-1 Niemann-Pick disease type C1 (NPC-1) 257220 - - - NPC1 - -
02680 NPC-2 Niemann-Pick disease type C2 (NPC-2) 607625 - - - NPC2 - -
01981 OMOD-1 omodysplasia, type 1 (OMOD-1) 258315 - - - GPC6 - -
04608 PCH-3 hypoplasia, pontocerebellar?, type 3 (PCH-3) 608027 - - - PCLO - -
00314 polyposis polyposis - - - - APC - -
05043 SCA-41 ataxia, spinocerebellar, type 41 (SCA-41) 616410 - - - TRPC3 - -
00726 SCN-4 neutropenia, severe congenital, type 4, autosomal recessive (SCN-4) 612541 - - - G6PC3 - -
00773 SGBS-1 Simpson-Golabi-Behmel syndrome, type 1 (SGBS-1) 312870 - - - GPC3, GPC4 - -
03110 SHEP-10 pigmentation, skin/hair/eye, variation in, type 10 (SHEP-10) 612267 - - - TPCN2 - -
00947 SHFM-3 split-hand/foot malformation, type 3, gene duplication syndrome (SHFM-3) - - - - BTRC, DPCD, FBXW4, LBX1, POLL - -
02991 SMDP-2 surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2) 610913 - - - SFTPC - -
02337 USH-1D Usher syndrome, type 1D (USH-1D) 601067 - - - CDH23, PCDH15 - -
02413 USH-1F Usher syndrome, type 1F (USH-1F) 602083 - - - PCDH15 - -
00774 WT-1 Wilms tumor, type 1, somatic (WT-1, nephroblastoma) 194070 - - - BRCA2, GPC3, H19, WT1 - -
02135 XPC xeroderma pigmentosum, complementation group C (XPC) 278720 - - - XPC - -
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