Statistics on dSysMap (ver. 2020_05)

Diseases
Phenotypes 3989
Diseases (clusters of phenotypes) 1387
Phenotypes/disease 2.9
Phenotypes with muts. on structures 2858
Diseases with muts. on structures 1131
Proteins
Proteins in the human proteome 20596
Proteins affected by disease mutations 2974
Mutated proteins with structural data 2429
  - Mutated proteins with complete structures 649
  - Mutated proteins with complete models 442
  - Mutated proteins with partial struct/models 1338
Mutated proteins w/o structural data 545
Mutated proteins in the interactome 2719
Mut. proteins with struct. data in the interactome 2295
Proteins affected by interaction mutations 909
Mutations
Mutations (in total) 30036
Mutations/phenotype 7.5
Mutations/disease 21.7
Structurally classified mutations 21852
  - Surface mutations 15629
  - Buried mutations 6223
  - Interface mutations 5004
Mutations w/o struct. classification 8184
Interactions
Interactions in the human binary interactome 136329
Interactions affected by disease mutations 2302
Interactions with structural data 15984
  - Interactions with exp. structures 8359
  - Interactions with global models 5311
  - Interactions with domain-domain models 2314
Interactions w/o structural data 120345
Mutations in predicted disordered regions (*)
Proteins with disordered fragments (at least 30 res) 15577 (out of 20341, 77%)
Disordered residues (at least 30 res) 4068081 (out of 11371216, 36%)
Proteins with >20% of interf disordered 1583 (out of 4847 prots with known interf., 33%)
Interactions with >20% of interf disordered 2993 (out of 7737 ints with known interf., 39%)
Mutations in a disordered fragment (at least 30 res) 3558 (out of 23912 total mutations, 15%)
Mutations in a disordered residue at an interface (at least 30 res) 312 (out of 3558 mutations in a disordered fragment, 9%)

(*) Disordered regions were predicted with VSL2B.
Representation of MeSH categories
Category Number of disease phenotypes Number of OMIM phenotypes
In dSysMap Total % in dSysMap In dSysMap Total % in dSysMap
Animal disease 0 141 0% 0 0 0%
Bacterial infection or mycosis 7 349 2% 7 26 27%
Blood disease 215 647 33% 215 304 71%
Cancer 136 1154 12% 136 266 51%
Cardiovascular disease 271 1124 24% 271 430 63%
Congenital abnormality 882 3022 29% 882 1368 64%
Connective tissue disease 88 273 32% 88 121 73%
Digestive system disease 109 653 17% 109 201 54%
Ear-nose-throat disease 172 647 27% 172 326 53%
Endocrine system disease 213 748 28% 213 342 62%
Environmental origin disorders 0 5 0% 0 0 0%
Eye disease 436 1461 30% 436 710 61%
Fetal disease 12 53 23% 12 18 67%
Genetic disease 1520 3637 42% 1520 2183 70%
Immune system disease 139 642 22% 139 277 50%
Infant-newborn disease 72 234 31% 72 100 72%
Lymphatic disease 36 228 16% 36 70 51%
Mental disorder 196 926 21% 196 381 51%
Metabolic disease 694 1564 44% 694 911 76%
Mouth disease 92 608 15% 92 162 57%
Musculoskeletal disease 661 2455 27% 661 993 67%
Nervous system disease 1191 3933 30% 1191 1893 63%
Nutrition disorder 25 126 20% 25 54 46%
Occupational disease 1 29 3% 1 2 50%
Parasitic disease 0 157 0% 0 5 0%
Pathology 238 1639 15% 238 412 58%
Pregnancy complication 18 163 11% 18 29 62%
Respiratory tract disease 70 468 15% 70 132 53%
Signs and symptoms 472 1868 25% 472 818 58%
Skin disease 293 1243 24% 293 476 62%
Substance-related disorder 1 46 2% 1 6 17%
Urogenital disease 234 875 27% 234 357 66%
Viral disease 2 262 1% 2 18 11%
Wounds and injuries 6 284 2% 6 14 43%

The data in the current version of dSysMap is based on the contents of the following databases:

Database Version
UniprotKB 2020_05
Pfam 32.0
3did 2020_05
OMIM 23/06/2021
BINDTranslation 1.0
BioGRID 4.2.192
Database Version
DIP 05/02/2017
HPRD 041310
InnateDB 27/10/2015
IntAct 30/01/2020
PDB 2020_05