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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 |
|---|---|---|---|---|---|
| C1527349 | Ductal Breast Carcinoma | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0302592 | Cervix carcinoma | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0524851 | Neurodegenerative Disorders | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0003873 | Rheumatoid Arthritis | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C1621958 | Glioblastoma Multiforme | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0699791 | Stomach Carcinoma | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0007097 | Carcinoma | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C1846707 | SPINOCEREBELLAR ATAXIA 17 | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0025362 | Mental Retardation | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0677886 | Epithelial ovarian cancer | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0700095 | Central neuroblastoma | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0019196 | Hepatitis C | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0276289 | Zika Virus Infection | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C1269683 | Major Depressive Disorder | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0025958 | Microcephaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150418 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266544 | Microcornea | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1531647 | Cerebral ventriculomegaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150411 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
