Table 3.
Protein Name | UniProt Accession | pProS Residues | No. Disease | Disease Category | Disease |
---|---|---|---|---|---|
DNA excision repair protein ERCC-6 | Q03468 | 63 | 4 | Ner | Age-related macular degeneration |
Ner | Cockayne syndrome | ||||
Mal | Disorders of nucleotide excision repair | ||||
Ski | Ultra violet-sensitive syndrome | ||||
Cellular tumor antigen p53 | P04637 | 61 | 46 | * | |
E3 ubiquitin-protein ligase RNF168 | Q8IYW5 | 55 | 1 | Imm | RIDDLE syndrome |
CD2-associated protein | Q9Y5K6 | 50 | 1 | Uri | Focal segmental glomerulosclerosis |
Synaptic functional regulator FMR1 | Q06787 | 47 | 3 | Rep | Premature ovarian failure |
Low-density lipoprotein receptor-related protein 2 | P98164 | 44 | 1 | Mal | Donnai–Barrow syndrome |
Eukaryotic translation initiation factor 4 gamma 1 | Q04637 | 44 | 1 | Ner | Parkinson disease |
DNA (cytosine-5)-methyltransferase 1 | P26358 | 41 | 1 | Ner | Hereditary sensory and autonomic neuropathy |
Period circadian protein homolog 2 | O15055 | 40 | 1 | Ner | Familial advanced sleep phase syndrome |
Latent-transforming growth factor β-binding protein 2 | Q14767 | 40 | 1 | Ner | Primary congenital glaucoma |
Low-density lipoprotein receptor-related protein 6 | O75581 | 39 | 3 | Can | Breast cancer |
Car | Coronary artery disease | ||||
Dig | Tooth agenesis | ||||
DNA damage-inducible transcript 3 protein | P35638 | 39 | 1 | Can | Myxoid liposarcoma |
KN motif and ankyrin repeat domain-containing protein 1 | Q14678 | 39 | 1 | Ner | Spastic quadriplegic cerebral palsy |
Retinoic acid-induced protein 1 | Q7Z5J4 | 36 | 1 | Oco | Smith–Magenis syndrome |
Histone-lysine N-methyltransferase 2D | O14686 | 35 | 2 | Can | Follicular lymphoma |
Mal | Kabuki syndrome | ||||
FYN-binding protein 1 | O15117 | 35 | 1 | Car | Thrombocytopenia |
Low-density lipoprotein receptor adapter protein 1 | Q5SW96 | 33 | 1 | Dme | Familial autosomal recessive hypercholesterolemia |
Catenin β-1 | P35222 | 32 | 8 | Can | Thyroid cancer |
Can | Medulloblastoma | ||||
Can | Endometrial cancer | ||||
Can | Colorectal cancer | ||||
Can | Gastric cancer | ||||
Can | Hepatocellular carcinoma | ||||
Oth | Autosomal dominant mental retardation | ||||
Ski | Pilomatricoma | ||||
Sp110 nuclear body protein | Q9HB58 | 31 | 1 | Dig | Hepatic veno-occlusive disease with immunodeficiency |
Low-density lipoprotein receptor-related protein 5 | O75197 | 30 | 6 | Mal | Osteopetrosis |
Mal | Worth type autosomal dominant osteosclerosis | ||||
Mal | Osteoporosis-pseudoglioma syndrome | ||||
Mus | Hyperostosis corticalis generalisata | ||||
Mus | Osteoporosis | ||||
Ner | Familial exudative vitreoretinopathy | ||||
LEM domain-containing protein 2 | Q8NC56 | 30 | 1 | Ner | Cataract |
Single-stranded DNA cytosine deaminase | Q9GZX7 | 30 | 1 | Imm | Hyper IgM syndromes, autosomal recessive type |
* The list of diseases involving p53 is found in Supplementary Table S2. Can: Cancers; Car: Cardiovascular diseases; Dme: Congenital disorders of metabolism; Mal: Congenital malformations; Dig: Digestive system diseases; End: Endocrine and metabolic diseases; Imm: Immune system diseases; Mus: Musculoskeletal diseases; Ner: Nervous system diseases; Oco: Other congenital disorders; Rep: Reproductive system diseases; Res: Respiratory diseases; Ski: Skin diseases; Uri: Urinary system diseases; Oth: Other diseases.