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 8926 - 8950 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1279945 Acute interstitial pneumonia ARSA 410 arylsulfatase A P15289
C1279945 Acute interstitial pneumonia ENO1 2023 enolase 1 P06733
C1279945 Acute interstitial pneumonia SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C1279945 Acute interstitial pneumonia AMY2A 279 amylase alpha 2A P04746
C1279945 Acute interstitial pneumonia DEGS1 8560 delta 4-desaturase, sphingolipid 1 O15121
C1279945 Acute interstitial pneumonia PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C1279481 X-Linked Combined Immunodeficiency Diseases FUT1 2523 fucosyltransferase 1 (H blood group) P19526
C1279481 X-Linked Combined Immunodeficiency Diseases PGK1 5230 phosphoglycerate kinase 1 P00558
C1279481 X-Linked Combined Immunodeficiency Diseases IL18R1 8809 interleukin 18 receptor 1 Q13478
C1279420 Anxiety neurosis (finding) NANS 54187 N-acetylneuraminate synthase Q9NR45
C1279420 Anxiety neurosis (finding) ARSI 340075 arylsulfatase family member I Q5FYB1
C1279420 Anxiety neurosis (finding) LGALS3 3958 galectin 3 P17931
C1279420 Anxiety neurosis (finding) GLO1 2739 glyoxalase I Q04760
C1279420 Anxiety neurosis (finding) AMY1A 276 amylase alpha 1A P04745
C1279420 Anxiety neurosis (finding) AMY1B 277 amylase alpha 1B P04745
C1279420 Anxiety neurosis (finding) AMY1C 278 amylase alpha 1C P04745
C1279412 periodic paralysis (finding) PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C1279296 Chronic leukemia (category) HMMR 3161 hyaluronan mediated motility receptor O75330
C1276035 Pena-Shokeir syndrome type I DPAGT1 1798 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Q9H3H5
C1276035 Pena-Shokeir syndrome type I PIGS 94005 phosphatidylinositol glycan anchor biosynthesis class S Q96S52
C1276035 Pena-Shokeir syndrome type I GBA 2629 glucosylceramidase beta P04062
C1276035 Pena-Shokeir syndrome type I GBE1 2632 1,4-alpha-glucan branching enzyme 1 Q04446
C1276035 Pena-Shokeir syndrome type I PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C1276035 Pena-Shokeir syndrome type I AGRN 375790 agrin O00468
C1276035 Pena-Shokeir syndrome type I CNTN1 1272 contactin 1 Q12860

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Last updated: August 19, 2024