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 |
---|---|---|---|---|---|
C0012236 | DiGeorge Syndrome | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
C0012236 | DiGeorge Syndrome | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
C0012236 | DiGeorge Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C3257801 | Dextrotransposition of aorta | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
C3257801 | Dextrotransposition of aorta | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C0011813 | Dextrocardia | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
C0011813 | Dextrocardia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
C0011813 | Dextrocardia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
C0920296 | Developmental reading disorder | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
C0920296 | Developmental reading disorder | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
C0920296 | Developmental reading disorder | NCAN | 1463 | neurocan | O14594 |
C0920296 | Developmental reading disorder | PTGES3 | 10728 | prostaglandin E synthase 3 | Q15185 |
C0920296 | Developmental reading disorder | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
C0399352 | Developmental absence of tooth | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
C0011757 | Developmental Coordination Disorder | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
C0011757 | Developmental Coordination Disorder | ARSD | 414 | arylsulfatase D | P51689 |
C0011757 | Developmental Coordination Disorder | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C1330966 | Developmental Academic Disorder | KL | 9365 | klotho | Q9UEF7 |
C1330966 | Developmental Academic Disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
C3887938 | Deuteranomaly | ARSA | 410 | arylsulfatase A | P15289 |
C3887938 | Deuteranomaly | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
C3887938 | Deuteranomaly | CHAT | 1103 | choline O-acetyltransferase | P28329 |
C3887938 | Deuteranomaly | CEL | 1056 | carboxyl ester lipase | P19835 |
C3887938 | Deuteranomaly | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C3887938 | Deuteranomaly | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
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Last updated: August 19, 2024