Statistics on dSysMap (ver. 2020_01)

Diseases
Phenotypes 3898
Diseases (clusters of phenotypes) 1337
Phenotypes/disease 2.9
Phenotypes with muts. on structures 2699
Diseases with muts. on structures 1076
Proteins
Proteins in the human proteome 20518
Proteins affected by disease mutations 2908
Mutated proteins with structural data 2328
  - Mutated proteins with complete structures 575
  - Mutated proteins with complete models 419
  - Mutated proteins with partial struct/models 1334
Mutated proteins w/o structural data 580
Mutated proteins in the interactome 2648
Mut. proteins with struct. data in the interactome 2195
Proteins affected by interaction mutations 850
Mutations
Mutations (in total) 29779
Mutations/phenotype 7.6
Mutations/disease 22.3
Structurally classified mutations 20385
  - Surface mutations 14391
  - Buried mutations 5994
  - Interface mutations 4692
Mutations w/o struct. classification 9394
Interactions
Interactions in the human binary interactome 124819
Interactions affected by disease mutations 2080
Interactions with structural data 15026
  - Interactions with exp. structures 7561
  - Interactions with global models 5193
  - Interactions with domain-domain models 2272
Interactions w/o structural data 109793
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 0 138 0% 0 0 0%
Bacterial infection or mycosis 8 348 2% 8 28 29%
Blood disease 215 649 33% 215 307 70%
Cancer 136 1154 12% 136 266 51%
Cardiovascular disease 270 1107 24% 270 428 63%
Congenital abnormality 880 3015 29% 880 1369 64%
Connective tissue disease 88 273 32% 88 121 73%
Digestive system disease 109 654 17% 109 201 54%
Ear-nose-throat disease 171 646 26% 171 326 52%
Endocrine system disease 214 748 29% 214 342 63%
Environmental origin disorders 0 5 0% 0 0 0%
Eye disease 433 1457 30% 433 708 61%
Fetal disease 12 53 23% 12 18 67%
Genetic disease 1485 3590 41% 1485 2142 69%
Immune system disease 140 641 22% 140 281 50%
Infant-newborn disease 72 234 31% 72 100 72%
Lymphatic disease 35 227 15% 35 70 50%
Mental disorder 194 913 21% 194 381 51%
Metabolic disease 694 1567 44% 694 911 76%
Mouth disease 92 607 15% 92 162 57%
Musculoskeletal disease 658 2451 27% 658 992 66%
Nervous system disease 1188 3931 30% 1188 1897 63%
Nutrition disorder 25 125 20% 25 54 46%
Occupational disease 1 29 3% 1 2 50%
Parasitic disease 0 157 0% 0 5 0%
Pathology 238 1626 15% 238 415 57%
Pregnancy complication 18 163 11% 18 29 62%
Respiratory tract disease 70 462 15% 70 132 53%
Signs and symptoms 467 1857 25% 467 817 57%
Skin disease 291 1244 23% 291 476 61%
Substance-related disorder 1 45 2% 1 6 17%
Urogenital disease 236 875 27% 236 359 66%
Viral disease 2 258 1% 2 18 11%
Wounds and injuries 6 282 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_01
Pfam 32.0
3did 2020_01
OMIM 18/05/2020
BINDTranslation 1.0
BioGRID 3.5.182
Database Version
DIP 05/02/2017
HPRD 041310
InnateDB 27/10/2015
IntAct 30/01/2020
PDB 2020_01