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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 |
|---|---|---|---|---|---|
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | CAT | 847 | catalase | P04040 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C2675491 | AMYOTROPHIC LATERAL SCLEROSIS 11 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1842675 | AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1834304 | AMYOTROPHY, HEREDITARY NEURALGIC | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2720289 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
