All diseases

53 entries on 1 page. Showing entries 1 - 53.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00943 - De Sanctis-Cacchione syndrome 278800 AR 0 0 ERCC6 - -
01586 - addiction, tobacco, susceptibility to 188890 - 13 0 CHRNA4, CYP2A6, GABBR2, SLC6A3 - -
01870 - Iminoglycinuria, digenic 242600 AR;DR 0 0 SLC36A2, SLC6A19, SLC6A20 - -
02195 - chondrodysplasia, with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863 XLD 0 0 HDAC6 - -
02521 - intolerance, orthostatic 604715 - 0 0 SLC6A2 - -
02711 - anxiety 607834 - 0 0 SLC6A4 - -
03422 ARMD5 macular degeneration, age-related, type 5 (ARMD-5) 613761 - 0 0 ERCC6 - -
03390 BBIS Beaulieu-Boycott-Innes syndrome (BBIS) 613680 AR 7 7 THOC6 - autosomal recessive
04059 BMFS2 bone marrow failure syndrome, type 2 (BMFS-2) 615715 AR 0 0 ERCC6L2 - -
02147 BMIQ11 body mass index quantitative trait locus 11 (BMIQ-11) 300306 - 0 0 SLC6A14 - -
03141 C6D complement component 6 deficiency (C6D) 612446 - 0 0 C6 - -
00639 cancer, lung cancer, lung (adenocarcinoma) 211980 - 52 40 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18 - -
03185 CCDS deficiency, cerebral creatine, syndrome (CCDS) - - 0 0 GAMT, GATM, SLC6A8 - -
01085 CCDS1;CDSX deficiency, cerebral creatine, syndrome, type 1 (CCDS1, creatine deficiency syndrome, X-linked (CDSX)) 300352 XLR 238 237 SLC6A8 - X-linked recessive
01142 CILD19 dyskinesia, ciliary, primary, 19 (CILD-19) 614935 AR 0 0 LRRC6 - -
03973 CILD27 dyskinesia, ciliary, primary, 27 (CILD-27) 615504 AR 0 0 CCDC65 - -
00942 COFS1 cerebrooculofacioskeletal syndrome, type 1 (COFS-1 214150 AR 0 0 ERCC6 - -
05595 CS Cockayne syndrome (CS) - - 9 9 ERCC6, ERCC8 - -
00941 CSB Cockayne syndrome, type B (CSB) 133540 AR 0 0 ERCC6 - -
01772 EV epidermodysplasia verruciformis, susceptibiity to (EV) - - 26 25 CIB1, TMC6, TMC8 - -
05653 EV1 epidermodysplasia verruciformis, susceptibiity to 1 (EV-1) 226400 AR 0 0 TMC6 - -
05408 FAME epilepsy, myoclonic, familial adult (FAME) - - 69 68 CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2 - autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
05589 FAME6;FMCTE6 epilepsy, myoclonic, familial adult, type 6 (FAME6, FMCTE6) 618074 AD 0 0 TNRC6A - -
02476 FSGS2 glomerulosclerosis, segmental, focal, type 2 (FSGS-2) 603965 AD 0 0 TRPC6 - -
03657 GACI2 calcification, arterial, generalized, of infancy, type 2 (GACI-2) 614473 AR 0 0 ABCC6 - -
05841 glycine encephalopathy encephalopathy, glycine, with normal serum glycine 617301 AR 2 1 SLC6A9 - -
03689 HKPX3 hyperekplexia, type 3 (HKPX-3) 614618 AD;AR 0 0 SLC6A5 - -
01836 HND Hartnup disorder (HND) 234500 AR 0 0 SLC6A19 - -
06567 HNFJ4 Hyperuricemic nephropathy, familial juvenile, 4 617056 AD 0 0 SEC61A1 - -
01350 hyperglycinuria hyperglycinuria 138500 AD 0 0 SLC36A2, SLC6A19, SLC6A20 - -
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 - -
04665 MAE epilepsy, myoclonic-atonic (MAE) 616421 AD 1 1 SLC6A1 - -
00718 MGORS3 Meier-Gorlin syndrome, type 3 (MGORS-3) 613803 AR 1 0 ORC6 - -
00728 MGORS5 Meier-Gorlin syndrome, type 5 (MGORS-5) 613805 AR 0 0 CDC6 - -
04666 MRT48 mental retardation, autosomal recessive, type 48 (MRT-48) 616269 AR 0 0 SLC6A17 - -
06240 NEDMEBA Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 617862 AR 0 0 TRAPPC6B - -
01583 NMTC1 cancer, thyroid, nonmedullary, type 1 (NMTC-1, papillary thyroid carcinoma) 188550 AD 0 0 CCDC6, GOLGA5, NCOA4, NKX2-1, PCM1, PRKAR1A, TRIM24, TRIM33 - -
00292 OCD obsessive compulsive disorder (OCD) 164230 AD 3 1 BDNF, HTR2A, SLC6A4 - -
01981 OMOD omodysplasia (OMOD) - - 2 2 FZD2, GPC6 - -
05844 OMOD1 omodysplasia, type 1 (OMOD1) 258315 AR 0 0 GPC6 - -
03989 PARK19 Parkinson disease, type 19, juvenile-onset (PARK-19) 615528 AR 0 0 DNAJC6 - -
01512 PCLD liver disease, polycystic (PCLD) - - 2 1 PRKCSH, SEC63 - -
05343 PCLD2 liver disease, polycystic, type 2 (PCLD-2) 617004 - 0 0 SEC63 - -
03268 PKDYS1;DTDS Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS)) 613135 AR 12 12 SLC6A3 - -
06075 POF11 ovarian failure, premature, type 11 616946 AD 0 0 ERCC6 - -
03996 PVNH6 heterotopia, nodular, periventricular, type 6 (PVNH-6) 615544 AD 0 0 C6orf70 - -
02035 PXE pseudoxanthoma elasticum (PXE) 264800 AR 421 399 ABCC6, XYLT1, XYLT2 - -
01533 PXEFF pseudoxanthoma elasticum, forme fruste (PXEFF) 177850 AD 0 0 ABCC6 - -
06482 SEMDJL3 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 618395 AR 0 0 EXOC6B - -
05562 SPGF spermatogenic failure (SPGF) - - 83 83 AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, SOHLH1, STAG3, TDRD9, ZPBP - -
06912 SPGF67 spermatogenic failure, type 67 619803 AR 0 0 CCDC62 - -
06701 THAMY ?Thrombocytopenia, anemia, and myelofibrosis 617441 AR 0 0 C6orf25 - -
02306 UVSS UV-sensitive syndrome (UVSS) 600630 AR 1 1 ERCC6 - -
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