Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 Biomarker group BEFREE Recent studies reporting that microdeletions incorporating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KATNAL1 may play a prominent role in the CNS; however, such associations lack the functional data required to highlight potential mechanisms which link the gene to disease symptoms. 28373692 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 Biomarker group BEFREE In summary, we propose that microdeletion 13q12.3 represents a novel clinically recognizable condition and that the microtubule severing gene KATNAL1 and the chromatin-associated gene HMGB1 are candidate genes for intellectual disability inherited in an autosomal dominant pattern. 24664804 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 Biomarker disease BEFREE Therefore, circ_KATNAL1 plays an anti-cancer role in PCa cells through the miR-145-3p/WISP1 pathway, which may be an important target for the diagnosis and treatment of PCa. 31800303 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 Biomarker disease BEFREE Therefore, circ_KATNAL1 plays an anti-cancer role in PCa cells through the miR-145-3p/WISP1 pathway, which may be an important target for the diagnosis and treatment of PCa. 31800303 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Circ_KATNAL1 regulates prostate cancer cell growth and invasion through miR-145-3p/WISP1 pathway. 31800303 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.010 Biomarker disease BEFREE Recent studies reporting that microdeletions incorporating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KATNAL1 may play a prominent role in the CNS; however, such associations lack the functional data required to highlight potential mechanisms which link the gene to disease symptoms. 28373692 2018
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.010 GeneticVariation disease BEFREE This study suggests a lack of association of KATNAL1 gene sequence variants and azoospermia in humans. 24913027 2014
CUI: C0021364
Disease: Male infertility
Male infertility
0.010 GeneticVariation phenotype BEFREE Multiple methods of genetic analysis were employed to investigate whether mutations in human KATNAL1 have a causative role in male infertility. 24913027 2014
atopic eczema/dermatitis (non-specific)
0.010 GeneticVariation disease BEFREE A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. 24664804 2014