Statistics on dSysMap (ver. 2019_01)

Diseases
Phenotypes 3712
Diseases (clusters of phenotypes) 1310
Phenotypes/disease 2.8
Phenotypes with muts. on structures 2514
Diseases with muts. on structures 1042
Proteins
Proteins in the human proteome 20540
Proteins affected by disease mutations 2779
Mutated proteins with structural data 2200
  - Mutated proteins with complete structures 508
  - Mutated proteins with complete models 421
  - Mutated proteins with partial struct/models 1271
Mutated proteins w/o structural data 579
Mutated proteins in the interactome 2495
Mut. proteins with struct. data in the interactome 2051
Proteins affected by interaction mutations 771
Mutations
Mutations (in total) 29255
Mutations/phenotype 7.9
Mutations/disease 22.3
Structurally classified mutations 19296
  - Surface mutations 13468
  - Buried mutations 5828
  - Interface mutations 4074
Mutations w/o struct. classification 9959
Interactions
Interactions in the human binary interactome 118706
Interactions affected by disease mutations 1893
Interactions with structural data 13889
  - Interactions with exp. structures 6847
  - Interactions with global models 4955
  - Interactions with domain-domain models 2087
Interactions w/o structural data 104817
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 0 136 0% 0 0 100%
Bacterial infection or mycosis 14 441 3% 14 37 38%
Blood disease 203 634 32% 203 295 69%
Cancer 135 1146 12% 135 263 51%
Cardiovascular disease 268 1098 24% 268 425 63%
Congenital abnormality 876 3007 29% 876 1363 64%
Connective tissue disease 87 275 32% 87 121 72%
Digestive system disease 108 651 17% 108 202 53%
Ear-nose-throat disease 171 646 26% 171 326 52%
Endocrine system disease 214 749 29% 214 342 63%
Environmental origin disorders 0 5 0% 0 0 100%
Eye disease 432 1449 30% 432 707 61%
Fetal disease 11 53 21% 11 18 61%
Genetic disease 1441 3515 41% 1441 2089 69%
Immune system disease 133 625 21% 133 275 48%
Infant-newborn disease 68 229 30% 68 95 72%
Lymphatic disease 34 226 15% 34 69 49%
Mental disorder 195 902 22% 195 380 51%
Metabolic disease 699 1589 44% 699 922 76%
Mouth disease 91 606 15% 91 161 57%
Musculoskeletal disease 655 2457 27% 655 990 66%
Nervous system disease 1185 3922 30% 1185 1897 62%
Nutrition disorder 25 124 20% 25 54 46%
Occupational disease 1 29 3% 1 2 50%
Parasitic disease 0 159 0% 0 5 0%
Pathology 232 1574 15% 232 401 58%
Pregnancy complication 17 161 11% 17 29 59%
Respiratory tract disease 69 458 15% 69 131 53%
Signs and symptoms 467 1853 25% 467 816 57%
Skin disease 292 1237 24% 292 476 61%
Substance-related disorder 1 43 2% 1 6 17%
Urogenital disease 236 875 27% 236 359 66%
Viral disease 3 255 1% 3 18 17%
Wounds and injuries 6 277 2% 6 14 43%

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

Database Version
UniprotKB 2019_01
Pfam 32.0
3did 2019_01
BINDTranslation 1.0
BioGRID 3.5.168
Database Version
DIP 05/02/2017
HPRD 041310
InnateDB 27/10/2015
IntAct 30/11/2018
PDB 2019_01