All diseases

129 entries on 2 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00683 - cancer, breast, familial 114480 765 748 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
00754 - Van den Ende-Gupta syndrome 600920 0 0 SCARF2 - -
00845 - Alazami syndrome 615071 1 1 LARP7 - -
01058 - Proud syndrome 300004 0 0 ARX - -
01196 - blood group system, Dyffy 110700 0 0 DARC - -
01291 - Symmetrical dyschromatosis of extremities 127400 0 0 ADAR - -
01524 - cancer, prostate 176807 175 173 AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3 - -
01871 - Schimke immunoosseous dysplasia 242900 1 1 SMARCAL1 - -
01897 - chylomicron retention disease 246700 0 0 SAR1B - -
01962 - myxoma, intracardiac 255960 0 0 PRKAR1A - -
02063 - Sarcosine dehydrogenase deficiency 268900 0 0 SARDH - -
02733 - heterotopia, periventricular, autosomal recessive 608097 1 1 ARFGEF2 - -
02846 - carotid intimal medial thickness 1 609338 0 0 PPARG - -
02938 - Hepatitis b virus, susceptibility to 610424 0 0 IFNAR2, IFNGR1 - -
03064 - White blood cell count quantitative trait locus 1 611862 0 0 DARC - -
03132 - leukemia, acute, promyelocytic 612376 1 1 NUMA1, RARA - -
03461 - Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 0 0 SARS2 - -
03852 - CARD11 immunodeficiency 615206 0 0 CARD11 - -
03946 - retinitis pigmentosa, with or without situs inversus 615434 0 0 ARL2BP - -
03948 - liver failure syndrome, infantile, type 1 615438 0 0 LARS - -
04123 - leukoencephalopathy, progressive, with ovarian failure 615889 0 0 AARS2 - -
04136 - webb-dattani syndrome 615926 0 0 ARNT2 - -
04145 - acth-independent macronodular adrenal hyperplasia 2 615954 0 0 ARMC5 - -
01160 ACRDYS-1 acrodysostosis, with/without hormone resistance (ACRDYS-1) 101800 39 33 PRKAR1A - -
01333 ADERM adermatoglyphia (ADERM) 136000 0 0 SMARCAD1 - -
03805 AGS-6 Aicardi-Goutieres syndrome, type 6 (AGS-6) 615010 0 0 ADAR - -
02139 AIS;CAIS syndrome, insensitivity, androgen (AIS, complete androgen insensitivity syndrome (CAIS)) 300068 587 587 AR - -
03085 ALS-10 sclerosis, lateral, amyotrophic, type type 10 (ALS-10) 612069 0 0 TARDBP - -
03617 ALS-16 sclerosis, lateral, amyotrophic, type 16, juvenile (ALS-16) 614373 0 0 SIGMAR1 - -
00137 AOS-1 Adams-Oliver syndrome, type 1 (AOS-1) 100300 0 0 ARHGAP31 - -
01662 argininemia argininemia 207800 14 7 ARG1 - -
03428 ARMD-8 macular degeneration, age-related, type 8 (ARMD-8) 613778 0 0 ARMS2 - -
00089 BBS-1 Bardet-Biedl syndrome, type 1 (BBS-1) 209900 8 7 ARL6, BBS1, CCDC28B, MKS1, TMEM67 - -
04364 BBS-3 Bardet-Biedl syndrome, type 3 (BBS-3) 600151 0 0 ARL6 - -
04393 BENTA B-cell expansion with NFKB and T-cell anergy (BENTA) 616452 0 0 CARD11 - -
04505 CAGSSS cataracts?, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) 616007 0 0 IARS2 - -
00639 cancer, lung cancer, lung (adenocarcinoma) 211980 10 7 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SLC22A18 - -
00424 cancer, ovarian cancer, ovarian 167000 105 76 AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
01688 CANDF-2 candidiasis, familial, type 2 (CANDF-2) 212050 0 0 CARD9 - -
03953 CILD-23 dyskinesia, ciliary, type 23 (CILD-23) 615451 0 0 ARMC4 - -
02364 CMT-2D Charcot-Marie-Tooth disease, type 2D (CMT-2D) 601472 0 0 GARS - -
03301 CMT-2N Charcot-Marie-Tooth disease, type 2N (CMT-2N) 613287 0 0 AARS - -
04569 CMT-2U Charcot-Marie-Tooth disease, axonal, type 2U (CMT-2U) 616280 2 2 MARS - -
02751 CMTDIC Charcot-Marie-Tooth disease, dominant intermediate, type C (CMTDIC) 608323 4 4 YARS - -
03374 CMTRIB Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB) 613641 0 0 KARS - -
01459 CNC-1 Carney complex, type 1 (CNC-1) 160980 1 1 PRKAR1A - -
03792 COXPD-12 combined oxidative phosphorylation deficiency, type 12 (COXPD-12) 614924 0 0 EARS2 - -
00847 COXPD-14 oxidative phosphorylation deficiency, combined, type 14 (COXPD-14) 614946 0 0 FARS2 - -
05060 COXPD-20 oxidative phosphorylation deficiency, combined, type 20 (COXPD-20) 615917 0 0 VARS2 - -
04131 COXPD-21 combined oxidative phosphorylation deficiency, type 21 (COXPD-21) 615918 0 0 TARS2 - -
04590 COXPD-24 oxidative phosphorylation deficiency, combined, type 24 (COXPD-24) 616239 0 0 NARS2 - -
04570 COXPD-25 oxidative phosphorylation deficiency?, combined, type 25 (COXPD-25) 616430 0 0 MARS2 - -
03546 COXPD-8 combined oxidative phosphorylation deficiency, type 8 (COXPD-8) 614096 0 0 AARS2 - -
02221 CPDX-1 chondrodysplasia punctata, type 1, X-linked recessive (CPDX-1) 302950 56 56 ARSE - -
00156 CSS Coffin-Siris syndrome (CSS) 135900 139 122 ARID1B - -
02908 DFNB-49 deafness, autosomal recessive, type 49 (DFNB-49) 610153 0 0 MARVELD2 - -
03486 DFNB-89 deafness, autosomal recessive, type 89 (DFNB-89) 613916 0 0 KARS - -
03756 DFNB-98 deafness, autosomal recessive, type 98 (DFNB-98) 614861 0 0 TSPEAR - -
04604 DKCB-6 dyskeratosis congenita, autosomal recessive, type 6 (DKCB-6) 616353 0 0 PARN - -
04365 DO blood group, Dombrock (DO) 616060 0 0 ART4 - -
01298 ECTD-10A dysplasia, ectodermal, type 10A, hypohidrotic/hair/nail, autosomal dominant (ECTD-10A) 129490 8 8 EDAR - -
01763 ECTD-10B dysplasia, ectodermal, type 10B, hypohidrotic/hair/tooth, autosomal recessive (ECTD-10B) 224900 3 3 EDAR - -
03795 ECTD-11A dysplasia, ectodermal, type 11A, hypohidrotic/hair/tooth, autosomal dominant (ECTD-11A) 614940 2 2 EDARADD - -
03796 ECTD-11B dysplasia, ectodermal, type 11B, hypohidrotic/hair/tooth, autosomal recessive (ECTD-11B) 614941 0 0 EDARADD - -
00264 EIEE-1 encephalopathy, epileptic, early infantile, type 1 (EIEE-1) 308350 5 2 ARX - -
04342 EIEE-29 encephalopathy, epileptic, early infantile, type 29 (EIEE-29) 616339 0 0 AARS - -
04363 EIEE-8 encephalopathy, epileptic, early infantile, type 8 (EIEE-8) 300607 0 0 ARHGEF9 - -
01954 EPM-4 epilepsy, myoclonic, progressive, type 4, with or without renal failure (EPM-4) 254900 0 0 SCARB2 - -
02503 FPLD-3 lipodystrophy, familial partial, type 3 (FPLD-3) 604367 0 0 PPARG, PPP1R3A - -
00337 HBSL leukoencephalopathy, hypomyelination with brain stem and spinal cord involvement, leg spasticity (HBSL) 615281 8 8 DARS - -
02979 HDLCQ-6 HDL cholesterol level, quantitative trait locus 6 (HDLCQ-6) 610762 0 0 SCARB1 - -
04640 HLD-9 leukodystrophy, hypomyelinating, type 9 (HLD-9) 616140 1 1 RARS - -
00195 HMN-5A neuropathy, motor, distal, hereditary, type Va (HMN-5A) 600794 22 21 BSCL2, GARS - -
03164 HRM-1 hair morphology, type 1, thickness (HRM-1) 612630 0 0 EDAR - -
02131 HYPT-8 hypotrichosis, type 8 (HYPT-8) 278150 0 0 LPAR6 - -
02173 HYSP-1 hypospadias, type 1, X-linked (HYSP-1) 300633 1 1 AR - -
00139 ID intellectual disability (ID) - 458 388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 516 more - -
00187 IDX (MRX) intellectual disability, X-linked (IDX, mental retardation (MRX)) - 368 352 ARX, IL1RAPL1 - -
03964 ILLD lung and liver disease, interstitial (ILLD, liver failure syndrome, infantile, type 2) 615486 6 6 MARS - -
00582 JBTS-8 Joubert syndrome, type 8 (JBTS-8) 612291 0 0 ARL13B - -
00704 JMML;CMML leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML)) 607785 119 119 ARHGAP26, EZH2, MLLT11, NF1, PTPN11 - -
00338 LBSL leukoencephalopathy, brain stem and spinal cord involvement, lactate elevation (LBSL) 611105 39 39 DARS2 - -
01627 LCAH hyperplasia, adrenal, lipoid, congenital (LCAH) 201710 0 0 STAR - -
00266 LISX-2;XLAG lissencephaly, X-linked, type 2 (LISX-2, with ambiguous genitalia (XLAG)) 300215 9 0 ARX - -
02673 LPRS-2 leprosy, type 2 (LPRS-2) 607572 0 0 PARK2 - -
05272 MAIS syndrome, insensitivity, androgen, mild (MAIS) - 27 27 AR - -
03987 MCOPCB-12 microphthalmia, syndromic, type 12 (MCOPCB-12) 615524 0 0 RARB - -
00816 MDDGA-6 dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A6 (MDDGA-6) 613154 0 0 LARGE - -
00817 MDDGB-5 dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B5 (MDDGB-5) 608840 1 1 LARGE - -
02638 meningioma meningioma, familial, susceptibility to 607174 3 3 MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU - -
03363 MLASA-2 myopathy, lactic acidosis, and sideroblastic anemia, type 2 (MLASA-2) 613561 0 0 YARS2 - -
00448 MLD leukodystrophy, metachromatic (MLD, arylsulfatase A deficiency) 250100 190 190 ARSA - -
00309 MLRS malaria, susceptibility to, resistance (MLRS) 611162 0 0 CD36, CISH, CR1, DARC, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF - -
01939 MPS-6 mucopolysaccharidosis type VI (MPS-6) 253200 0 0 ARSB - -
00799 MRD-12 mental retardation, autosomal dominant, type 12 (MRD-12) 614562 2 2 ARID1B - -
00790 MRD-14 mental retardation, autosomal dominant, type 14 (MRD-14) 614607 0 0 ARID1A - -
00756 MRD-15 mental retardation, autosomal dominant, type 15 (MRD-15) 614608 0 0 SMARCB1 - -
01018 MRD-16 mental retardation, autosomal dominant, type 16 (MRD-16) 614609 0 0 SMARCA4 - -
01057 MRX-29 mental retardation, X-linked, type 29 and others (MRX-29) 300419 0 0 ARX - -
00837 MRX-46 mental retardation, X-linked, type 46 (MRX-46) 300436 0 0 ARHGEF6 - -
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