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 43551 - 43575 of 62743 in total
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