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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
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C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | LDHB | 3945 | lactate dehydrogenase B | P07195 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SDC1 | 6382 | syndecan 1 | P18827 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CALR | 811 | calreticulin | P27797 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PARG | 8505 | poly(ADP-ribose) glycohydrolase | Q86W56 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PARG | 8505 | poly(ADP-ribose) glycohydrolase | Q86WA6 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | HYAL2 | 8692 | hyaluronidase 2 | Q12891 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | KL | 9365 | klotho | Q9UEF7 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CD38 | 952 | CD38 molecule | P28907 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CEL | 1056 | carboxyl ester lipase | P19835 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | VCAN | 1462 | versican | P13611 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | DPEP1 | 1800 | dipeptidase 1 | P16444 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
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Last updated: August 19, 2024