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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 ▲ |
|---|---|---|---|---|---|
| C0036572 | Seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0014877 | Esotropia | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C1384666 | hearing impairment | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036439 | Scoliosis, unspecified | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0494475 | Tonic - clonic seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0000768 | Congenital Abnormality | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0221356 | Brachycephaly | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036857 | Severe intellectual disability | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0025202 | melanoma | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0013336 | Dwarfism | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0023520 | Leukodystrophy | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0005697 | Neurogenic Urinary Bladder | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0235946 | Cerebral atrophy | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C3714756 | Intellectual Disability | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0013421 | Dystonia | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C2239176 | Liver carcinoma | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0023467 | Leukemia, Myelocytic, Acute | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C4721453 | Peripheral Nervous System Diseases | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0007758 | Cerebellar Ataxia | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0752125 | Spinocerebellar Ataxia Type 7 | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0524851 | Neurodegenerative Disorders | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0151313 | Sensory neuropathy | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C1168401 | Squamous cell carcinoma of the head and neck | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0031117 | Peripheral Neuropathy | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
