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KAAG1 (Kidney Associated Antigen 1) is a Protein Coding gene. Diseases associated with KAAG1 include Sclerosing Cholangitis, Neonatal and Nephronophthisis 19.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006955 | immune response | NAS | 10601354 |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KAAG1 30 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
917935 | Likely Pathogenic: Nephronophthisis 19 | 24,357,457(+) |
CTTGAGTTTCTTGAAG
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs) |
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR | |
994593 | Uncertain Significance: not provided | 24,357,634(+) |
C/T NM_016356.5(DCDC2):c.117G>A (p.Lys39=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs1042640142 | Pathogenic: Sclerosing cholangitis, neonatal | 24,357,700(+) |
C/G NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn) |
MISSENSE | |
rs138670560 | Conflicting Interpretations: Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal; not provided | 24,357,529(+) |
G/T NM_016356.5(DCDC2):c.222C>A (p.Ile74=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs140803474 | Likely Benign: not provided | 24,357,379(+) |
G/A NM_016356.5(DCDC2):c.293+79C>T |
FIVE_PRIME_UTR_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1026638 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
sclerosing cholangitis, neonatal |
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nephronophthisis 19 |
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deafness, autosomal recessive 66 |
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inflammatory bowel disease 3 |
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succinic semialdehyde dehydrogenase deficiency |
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