Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 Biomarker disease BEFREE Mecp2<sup>ΔAT-hook1/y</sup> mutant male mice exhibited low locomotor activity, motor incoordination and cognitive deficit. 29074463 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 GeneticVariation disease BEFREE Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia (SCZ), de novo in a girl with atypical Rett syndrome, and de novo in a woman with SCZ. 29431277 2018
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.020 Biomarker disease BEFREE Btn2, a Hook1 ortholog and potential Batten disease-related protein, mediates late endosome-Golgi protein sorting in yeast. 17101785 2007
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.020 Biomarker disease BEFREE Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1. 15823567 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 AlteredExpression disease BEFREE HK-I/II expression and their activities increased in the synovium of RA compared with osteoarthritis (OA). 30944034 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE Based on Western blot analysis, we found that Hook1 was downregulated and that SHP2 has a tendency to overexpress without statistical significance in NSCLC tissues compared with their levels in normal lung tissues. 31413587 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 AlteredExpression disease BEFREE HK-I/II expression and their activities increased in the synovium of RA compared with osteoarthritis (OA). 30944034 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE We previously reported that Hook1 inhibits the phosphatase activity of SHP2 in the regulation of the epithelial-mesenchymal transition (EMT) in lung cancer. 31413587 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 AlteredExpression disease BEFREE We previously reported that Hook1 inhibits the phosphatase activity of SHP2 in the regulation of the epithelial-mesenchymal transition (EMT) in lung cancer. 31413587 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE We previously reported that Hook1 inhibits the phosphatase activity of SHP2 in the regulation of the epithelial-mesenchymal transition (EMT) in lung cancer. 31413587 2019
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 Biomarker group BEFREE Mecp2<sup>ΔAT-hook1/y</sup> mutant male mice exhibited low locomotor activity, motor incoordination and cognitive deficit. 29074463 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Hook1 expression differed significantly by histologic variants, maximal tumor diameter, and intrathyroidal dissemination (P < .05). 29953894 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia (SCZ), de novo in a girl with atypical Rett syndrome, and de novo in a woman with SCZ. 29431277 2018
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 GeneticVariation phenotype BEFREE Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia (SCZ), de novo in a girl with atypical Rett syndrome, and de novo in a woman with SCZ. 29431277 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 Biomarker disease BEFREE SHP2 was positively correlated with Hook1 in TC. 29953894 2018
CUI: C0859389
Disease: DDS syndrome
DDS syndrome 		0.010 GeneticVariation phenotype BEFREE Based on patients with severe decapitated and decaudated spermatozoa (DDS) syndrome, the study aimed to validate whether new mutation exists on their Hook microtubule-tethering protein 1 (<i>HOOK1</i>) genes and follow their results of assisted reproduction treatment (ART). 29330334 2018
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.010 GeneticVariation disease BEFREE Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia (SCZ), de novo in a girl with atypical Rett syndrome, and de novo in a woman with SCZ. 29431277 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE In addition, Hook1 expression was significantly associated with hepatocellular carcinoma malignancy. 28718370 2017
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 GeneticVariation phenotype BEFREE Disruption of murine Hook1 results in a disturbed spermatogenesis and consequently leads to male infertility in mice. 28283191 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 Biomarker disease BEFREE Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome. 28399682 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE In addition, Hook1 expression was significantly associated with hepatocellular carcinoma malignancy. 28718370 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE In summary, our results indicate that downregulation of Hook1 plays a pivotal role in hepatocellular carcinoma progression via epithelial-mesenchymal transition. 28718370 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE Furthermore, Hook proteins are associated with pathological hallmarks in AD; Hook1 and Hook3 are localized to tau aggregates and Hook2 to glial components within amyloid plaques. 25799409 2015
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.010 AlteredExpression disease BEFREE Furthermore, Hook proteins are associated with pathological hallmarks in AD; Hook1 and Hook3 are localized to tau aggregates and Hook2 to glial components within amyloid plaques. 25799409 2015