Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54800
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Kelch like family member 24 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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KLHL24 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CMH29, DRE1, EBS6, EBSSH, KRIP6 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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CMH29, EBS6 |
Chromosome
Chromosome number
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3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q27.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protei |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Epidermolysis bullosa |
Epidermolysis Bullosa Simplex Kobner |
rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901, rs1558088792, rs121912466, rs2147483647, rs746056280, rs121912832, rs121912833, rs121912834, rs121912836, rs121912837, rs759990189, rs121912839, rs121912844, rs121912845, rs1575495784, rs121912848, rs121912849, rs121912851, rs121912852, rs121912853, rs121912854, rs121912855, rs121912769, rs1564673127, rs121912770, rs753898533, rs121912771, rs1589562891, rs2134563935, rs2134581672, rs121912772, rs121912773, rs121912774, rs121912856, rs201551805, rs769967565, rs786204774, rs797045084, rs886039330, rs886039412, rs1553277702, rs886041187, rs368007918, rs886041186, rs766902987, rs886041555, rs752657203, rs757415879, rs886058642, rs752317971, rs201307156, rs1057517096, rs774133746, rs772421306, rs758886532, rs144023803, rs1057517723, rs760063197, rs916512411, rs772381373, rs768128088, rs374718902, rs762162799, rs1064793916, rs780623622, rs747522386, rs1064793760, rs775196743, rs1131691385, rs201940939, rs200972872, rs139318843, rs1368134215, rs1203706188, rs772038362, rs1553281335, rs1181742615, rs1553853022, rs1553612928, rs1055680335, rs1057517023, rs760094345, rs1560241522, rs199527325, rs751535193, rs767539005, rs775244527, rs769808745, rs1032335328, rs1478395810, rs777672897, rs1575466699, rs776841521, rs1589572214, rs761388039, rs769294243, rs761927109, rs754621187 View all (97 more) |
27889062, 27798626 |
Palmoplantar keratoderma |
Keratoderma, Palmoplantar, Diffuse |
rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561 View all (10 more) |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Epidermolysis Bullosa Simplex |
epidermolysis bullosa simplex 6, generalized, with scarring and hair loss |
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GenCC |
Cardiomyopathy |
cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies |
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GenCC |
Hypertrophic cardiomyopathy |
hypertrophic cardiomyopathy |
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GenCC |
Hypertension |
Hypertension |
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GWAS |
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