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
02562 - Cerebral amyloid angiopathy, APP-related 605714 AD 4 - APP - -
00204 AD Alzheimer disease (AD) 104300 AD 697 164 A2M, ACE, APBB2, APP, BLMH, HFE, MPO, NOS3, PAXIP1, PLAU, PRNP, SORL1 - -
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 - -
05126 LGMD dystrophy, muscular, limb-girdle (LGMD) - - 7500 3655 POPDC3, TCAP, TRAPPC11 - -
00141 LGMD2 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) - - 313 311 CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11 - -
03907 LGMDR18;LGMD2S dystrophy, muscular, limb-girdle, autosomal recessive, type 18 (LGMD2S) 615356 AR 5 2 TRAPPC11 - -
04361 MODY14 diabetes of the young, maturity-onset, type 14 (MODY-14) 616511 AD - - APPL1 - -
00801 MRT13 mental retardation, autosomal recessive, type 13 613192 AR 3 3 TRAPPC9 - hypoplastic supraorbital ridges; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, stereotypies, MRI changes (cerebral and cerebellar atrophy, thin corpus callosum, and multifocal supratentorial white matter abnormalities)
05819 NEDESBA neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) 618741 AR - - TRAPPC4 - -
06240 NEDMEBA Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 617862 AR - - TRAPPC6B - -
05585 PEBAS encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) 617669 AR - - TRAPPC12 - autosomal recessive
06314 PEERB Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 618331 AR - - TRAPPC2L - -
02266 SEDT Spondyloepiphyseal dysplasia tarda 313400 XLR - - TRAPPC2 - -
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