All diseases

13 entries on 1 page. Showing entries 1 - 13.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05696 BARTS Bartter syndrome (BARTS) - - 52 51 KCNJ1, MAGED2 - -
00965 BARTS2 Bartter syndrome, type 2 (BARTS2) 241200 AR - - KCNJ1 - -
00864 DFNB4 deafness, autosomal recessive, type 4, with enlarged vestibular aqueduct 600791 AR 19 19 FOXI1, KCNJ10, SLC26A4 - -
02394 HHF2 hypoglycemia, hyperinsulinemic, familial, type 2 (HHF-2) 601820 AR 3 3 KCNJ11 - autosomal recessive
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 - -
03573 LCA16 Leber congenital amaurosis, type 16 (LCA-16) 614186 AR - - KCNJ13 - -
04542 MODY13 diabetes of the young, maturity-onset, type 13 (MODY-13) 616329 AD 1 1 KCNJ11 - -
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 - -
06156 PNDM2 Diabetes, permanent neonatal 2, with or without neurologic features 618856 - - - KCNJ11 - -
00863 SESAMES SESAME syndrome 612780 AR 10 10 KCNJ10 - -
01601 SVD vitreoretinal degeneration, snwoflake type (SVD) 193230 AD 1 1 KCNJ13 - -
05615 TNDM diabetes mellitus, transient neonatal (TNDM) - - - - ABCC8, KCNJ11, PLAGL1 - -
02959 TNMD3 diabetes mellitus, transient neonatal, type 3 (TNMD-3) 610582 AD - - KCNJ11 - autosomal dominant
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