All diseases

19 entries on 1 page. Showing entries 1 - 19.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06679 BANDDOS Brain abnormalities, neurodegeneration, and dysosteosclerosis 618476 AR - - CSF1R - -
00639 cancer, lung cancer, lung (adenocarcinoma) 211980 - 57 45 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18 - -
01157 CHTE Hypothyroidism, central, testicular enlargement (CHTE) 300888 XLR 34 34 IGSF1 - -
01861 CVID2 immunodeficiency, variable, common, type 2 (CVID-2) 240500 AD;AR - - CD19, CR2, ICOS, TNFRSF13B, TNFRSF13C - -
03349 CVID4 immunodeficiency, variable, common, type 4 (CVID-4) 613494 AR - - TNFRSF13C - -
02430 FCHL1 hyperlipidemia, familial combined, susceptibility to 602491 - - - USF1 - -
01514 FEO osteolysis, familial expansile (FEO, McCabe disease) 174810 AD - - TNFRSF11A - -
01366 FPF fever, periodic, familial 142680 AD 1 1 TNFRSF1A - -
01749 HDLS leukoencephalopathy, diffuse hereditary, with spheroid (HDLS) 221820 AD 3 1 CSF1R - -
02107 HNSCC carcinoma, squamous cell, head and neck (HNSCC) 275355 AR 5 5 ING1, PTEN, TNFRSF10B - -
02856 IGAD2 immunoglobulin A deficiency, type 2 (IGAD-2) 609529 - - - TNFRSF13B - -
03731 MS5 multiple sclerosis susceptibility to, type 5 (MS-5) 614810 - - - TNFRSF1A - -
06803 MYP27 Myopia 27 618827 AD - - CPSF1 - -
05611 NDD neurodevelopmental disorder (NDD) - - 4454 4274 ACBD6, ADARB1, AP1G1, ARFGEF1, ATG12, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CHKA, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, 94 more - -
06722 NEDALVS Neurodevelopmental disorder with absent language and variable seizures 618707 AD - - WASF1 - -
01992 OPTB2 osteopetrosis, autosomal recessive, type 2 (OPTB-2) 259710 AR - - TNFSF11 - -
03117 OPTB7 osteopetrosis, autosomal recessive, type 7 (OPTB-7) 612301 AR 1 - TNFRSF11A - -
02411 PDB2 Paget disease of bone, type 2, early-onset (PDB-2) 602080 AD - - TNFRSF11A - -
01856 PDB5 Paget disease of bone, type 5, juvenile-onset (PDB-5, hyperphosphatasia) 239000 AR - - TNFRSF11B - -
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