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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CAT | 847 | catalase | P04040 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1863051 | ALZHEIMER DISEASE 2 | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1863051 | ALZHEIMER DISEASE 2 | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1863512 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C1863512 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C1863534 | Stargardt disease 4 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1863634 | Cone-Rod Dystrophy 7 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1863655 | Deafness, Autosomal Recessive 21 | TECTA | 7007 | tectorin alpha | O75443 |
| C1863844 | Adult-onset citrullinemia type 2 | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C1863844 | Adult-onset citrullinemia type 2 | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C1863999 | Peroxisome Biogenesis Disorder, Complementation Group D | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1863999 | Peroxisome Biogenesis Disorder, Complementation Group D | CAT | 847 | catalase | P04040 |
| C1864100 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1864111 | MYOPIA 3 (disorder) | FMOD | 2331 | fibromodulin | Q06828 |
| C1864112 | HUNTINGTON DISEASE-LIKE 1 | PRNP | 5621 | prion protein | P04156 |
| C1864112 | HUNTINGTON DISEASE-LIKE 1 | PRNP | 5621 | prion protein | F7VJQ1 |
