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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
Displaying entries 56401 - 56425 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▲
C0010417 Cryptorchidism ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0009081 Congenital clubfoot ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0020224 Polyhydramnios ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C2931001 Congenital disorder of glycosylation type 1G ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0282577 Congenital Disorders of Glycosylation ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0016522 Foramen Ovale, Patent ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0035334 Retinitis Pigmentosa ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0013604 Edema ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0020598 Hypocalcemia ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0035305 Retinal Detachment ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0013274 Patent ductus arteriosus ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0848558 Hypospadias ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C1837396 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C4317295 Congenital disorder of glycosylation type 1s ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0036341 Schizophrenia MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0029124 Optic Atrophy MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0013384 Dyskinetic syndrome MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0009402 Colorectal Carcinoma MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0752202 Childhood Onset Dystonias MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0008489 Chorea MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0007789 Cerebral Palsy MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0027066 Myoclonus MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0028738 Nystagmus MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C3665347 Visual Impairment MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
C0019269 Hermaphroditism MECR 51102 mitochondrial trans-2-enoyl-CoA reductase Q9BV79
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Last updated: August 19, 2024