Statistics on dSysMap (ver. 2025_04)

Diseases
Phenotypes 4586
Diseases (clusters of phenotypes) 1469
Phenotypes/disease 3.1
Phenotypes with muts. on structures 3517
Diseases with muts. on structures 1259
Proteins
Proteins in the human proteome 20399
Proteins affected by disease mutations 3372
Mutated proteins with structural data 2885
  - Mutated proteins with complete structures 934
  - Mutated proteins with complete models 412
  - Mutated proteins with partial struct/models 1539
Mutated proteins w/o structural data 487
Mutated proteins in the interactome 3232
Mut. proteins with struct. data in the interactome 2811
Proteins affected by interaction mutations 1248
Mutations
Mutations (in total) 31816
Mutations/phenotype 6.9
Mutations/disease 21.7
Structurally classified mutations 24901
  - Surface mutations 18362
  - Buried mutations 6539
  - Interface mutations 6597
Mutations w/o struct. classification 6915
Interactions
Interactions in the human binary interactome 162261
Interactions affected by disease mutations 3470
Interactions with structural data 22184
  - Interactions with exp. structures 11965
  - Interactions with global models 7147
  - Interactions with domain-domain models 3072
Interactions w/o structural data 140077
Mutations in predicted disordered regions (*)
Proteins with disordered fragments (at least 30 res) 10438 (out of 20399, 51.17%)
Disordered residues (at least 30 res) 2116585 (out of 11422501, 18.52%)
Proteins with >20% of interf disordered 614 (out of 9155 prots with known interf., 6.7%)
Interactions with >20% of interf disordered 1252 (out of 22167 ints with known interf., 5.64%)
Mutations in a disordered fragment (at least 30 res) 1150 (out of 31816 total mutations, 3.61%)
Mutations in a disordered residue at an interface (at least 30 res) 105 (out of 1150 mutations in a disordered fragment, 9.13%)

(*) Disordered regions are extracted from AlphaFoldDB, considering residues with pLDDT < 50. The statistics are based on the version 4 of the predicted structures for the Homo sapiens reference proteome (UP000005640).

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 0 143 0% 0 0 100%
Bacterial infection or mycosis 7 355 2% 7 26 27%
Blood disease 218 698 31% 218 312 70%
Cancer 136 1147 12% 136 258 53%
Cardiovascular disease 272 1152 24% 272 429 63%
Congenital abnormality 883 3044 29% 883 1367 65%
Connective tissue disease 87 276 32% 87 122 71%
Digestive system disease 109 661 16% 109 201 54%
Ear-nose-throat disease 171 657 26% 171 326 52%
Endocrine system disease 216 751 29% 216 342 63%
Environmental origin disorders 0 5 0% 0 0 100%
Eye disease 441 1487 30% 441 712 62%
Fetal disease 13 55 24% 13 19 68%
Genetic disease (inborn) 1526 3627 42% 1526 2178 70%
Immune system disease 139 668 21% 139 283 49%
Infant-newborn disease 72 231 31% 72 98 73%
Lymphatic disease 36 229 16% 36 70 51%
Mental disorder 200 989 20% 200 385 52%
Metabolic disease 694 1558 45% 694 909 76%
Mouth disease 92 618 15% 92 162 57%
Musculoskeletal disease 665 2453 27% 665 991 67%
Nervous system disease 1195 3962 30% 1195 1888 63%
Nutrition disorder 25 126 20% 25 54 46%
Occupational disease 1 30 3% 1 2 50%
Parasitic disease 0 153 0% 0 5 0%
Pathology (anatomical condition) 53 402 13% 53 105 50%
Pathology (process) 223 1405 16% 223 361 62%
Pregnancy complication 20 166 12% 20 33 61%
Respiratory tract disease 71 488 15% 71 132 54%
Signs and symptoms 480 1917 25% 480 831 58%
Skin disease 290 1269 23% 290 472 61%
Substance-related disorder 1 50 2% 1 6 17%
Urogenital disease (female) 218 756 29% 218 304 72%
Urogenital disease (male) 214 733 29% 214 319 67%
Viral disease 2 267 1% 2 18 11%
Wounds and injuries 6 301 2% 6 14 43%

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

Database Version
UniprotKB 2024_05
Pfam 37.0
3did 2024_12
OMIM 23/06/2021
BINDTranslation 1.0
Database Version
BioGRID 4.4.239
IntAct 25/09/2024
PDB 2024_12