All diseases

34 entries on 1 page. Showing entries 1 - 34.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01164 - adenosine triphosphate, elevated 102900 AD 1 1 PKLR - -
04547 - lymphoma, Hodgkin, susceptibility to 246000 - - - KLHDC8B - -
04548 - kallikrein, decreased urinary activity of 615953 - - - KLK1 - -
01652 AI2A1 amelogenesis imperfecta, hypomaturation type, IIA1 (AI2A1) 204700 AR - - KLK4 - -
00230 AS Angelman syndrome (AS) 105830 AD 134 140 CDKL5, MECP2, UBE3A - -
03381 cancer, gastric cancer, gastric (Neoplasm of stomach) 613659 - 102 88 APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA - -
01524 cancer, prostate cancer, prostate 176807 AD;SMu 252 204 AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3 - -
04546 CDAN4 anemia, dyserythropoietic, congenital, type IV (CDAN-4) 613673 AD - - KLF1 - -
01843 CHL lymphoma, Hodgkin, classic (CHL) 236000 AR 1 1 KLHDC8B - -
03830 CWS4 Cowden syndrome, type 4 (CWS-4) 615107 - - - KLLN - -
00067 DEE2 encephalopathy, developmental and epileptic, type 2 300672 XLD 62 56 CDKL5 - -
06572 EBSSH Epidermolysis bullosa simplex, generalized, with scarring and hair loss 617294 AD - - KLHL24 - -
03139 EPM1B epilepsy, progressive myoclonic, type 1B (EPM1B) 612437 AR 8 7 PRICKLE1 - -
03364 HBFQTL6 hemoglobin, fetal, quantitative trait locus 6 (HBFQTL-6) 613566 - - - KLF1 - -
04472 HFTC calcinosis, tumoral, hyperphosphatemic, familial (HFTC) 211900 AR - - FGF23, GALNT3, KL - -
06219 HFTC3 ?Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 - - - KL - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06547 IMD66 ?Immunodeficiency 66 618847 AR - - MKL1 - -
01199 INLU blood group system, Lutheran inhibitor (INLU) 111150 - - - KLF1 - -
06167 MCPH16 Microcephaly 16, primary, autosomal recessive 616681 AR - - ANKLE2 - -
05421 microcephaly microcephaly - - 525 437 ASPM, CRNKL1, FAM178A, MCM7, SMC5 - -
02954 MODY7 diabetes of the young, maturity-onset, type 7 (MODY-7) 610508 - - - KLF11 - -
04164 NEM myopathy, nemaline (NEM) - - 471 470 CFL2, KLHL40, KLHL41, NEB - -
03901 NEM8 myopathy, nemaline, type 8 (NEM-8) 615348 AR 1 1 KLHL40 - -
04068 NEM9 myopathy, nemaline, type 9 (NEM-9) 615731 AR - - KLHL41 - -
06737 PERCHING PERCHING syndrome 617055 AR - - KLHL7 - -
03668 PHA2D pseudohypoaldosteronism type 2D (PHA-2D) 614495 AD;AR 1 1 KLHL3 - -
03138 PKKD prekallikrein (Fletcher factor) deficiency 612423 AR 18 17 KLKB1 - -
02045 pyr.kin. deficiency pyruvate kinase deficiency 266200 AR 770 327 PKLR - -
02757 RP26 retinitis pigmentosa, type 26 (RP26) 608380 - - - CERKL - -
03215 RP42 retinitis pigmentosa, type 42 (RP42) 612943 AD - - KLHL7 - -
03824 SPGF11 spermatogenic failure, type 11 (SPGF-11) 615081 AD 2 2 KLHL10 - -
05927 SPOAN paraplegia, spastic, optic atrophy, and neuropathy (SPOAN) 609541 AR 2 1 KLC2 - -
05740 XLID103 intellectual developmental disorder, X-linked, type 103 300982 XLR 2 2 KLHL15 - -
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