Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
0.700 GermlineCausalMutation disease ORPHANET Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 17701898 2007
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
0.700 GeneticVariation disease UNIPROT Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 17701898 2007
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
0.700 Biomarker disease GENOMICS_ENGLAND Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 17701898 2007
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
0.700 Biomarker disease GENOMICS_ENGLAND
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
0.700 Biomarker disease CTD_human
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
0.700 CausalMutation disease CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
0.100 Biomarker phenotype HPO
CUI: C0410916
Disease: Neonatal Death
Neonatal Death
0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
0.100 Biomarker phenotype HPO
CUI: C0030193
Disease: Pain
Pain
0.020 GeneticVariation phenotype BEFREE In addition, given the prominent role of the opioid system in pain signaling, we investigated the effects of acute alcohol exposure on PIP5K1C expression in humanized transgenic mice for the μ-opioid receptor that included the OPRM1 A118G polymorphism, a widely used mouse model to study analgesic response to opioids in pain. 29667742 2018
CUI: C0030193
Disease: Pain
Pain
0.020 Biomarker phenotype BEFREE Previously, we found that pain signaling and pain sensitization were reduced in Pip5k1cþ/ global heterozygous knockout 29020859 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE Phosphatidylinositol 4-phosphate 5-kinase type I γ (PIPKIγ90) regulates cell migration, invasion, and metastasis. 30040488 2019
CUI: C0034494
Disease: Rabies (disorder)
Rabies (disorder)
0.010 Biomarker disease BEFREE Up to 15 mitogen-activated protein kinases (MAPKs) and effectors, including MKK7 (associated with Jun N-terminal protein kinase [JNK] signalization) and DUSP5, as well as 17 phosphatidylinositol (PI)-related proteins, including PIP5K1C and MTM1, were found to be involved in the later stage of RABV infection. 31118297 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype BEFREE These data suggest that Cdk5-mediated PIPKIγ90 phosphorylation regulates cell invasion by controlling PIPKIγ90 activity and fibronectin secretion.-Li, L., Kołodziej, T., Jafari, N., Chen, J., Zhu, H., Rajfur, Z., Huang, C. Cdk5-mediated phosphorylation regulates phosphatidylinositol 4-phosphate 5-kinase type I γ 90 activity and cell invasion. 30040488 2019
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
0.010 GeneticVariation disease BEFREE In the case-control association study using an NIAAA discovery sample, 8 SNPs in PIP5K1C were significantly associated with AUD in the African ancestry (AA) group (p < 0.05 after correction; rs4807493, rs10405681, rs2074957, rs10432303, rs8109485, rs1476592, rs10419980, and rs4432372). 29667742 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE By comparing normal breast tissue to carcinoma <i>in situ</i> and invasive ductal carcinoma subtypes, we here show that the phosphorylation status of PIP5K1C at serine residue 448 (S448) can be predictive for breast cancer progression to an aggressive phenotype, while PIP5K1C expression levels are not indicative for this event. 30555634 2018
CUI: C0150055
Disease: Chronic pain
Chronic pain
0.010 GeneticVariation phenotype BEFREE Given the high comorbidity between AUD and chronic pain, we hypothesized that genetic variation in PIP5K1C might contribute to susceptibility to AUD. 29667742 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE By comparing normal breast tissue to carcinoma <i>in situ</i> and invasive ductal carcinoma subtypes, we here show that the phosphorylation status of PIP5K1C at serine residue 448 (S448) can be predictive for breast cancer progression to an aggressive phenotype, while PIP5K1C expression levels are not indicative for this event. 30555634 2018
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
0.010 Biomarker disease BEFREE The phosphorylation status of PIP5K1C at serine 448 can be predictive for invasive ductal carcinoma of the breast. 30555634 2018
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.010 AlteredExpression disease BEFREE Downregulation of IL-17A, IL-17F, IL-22, IL-26, HMGB1, and IRF4 and upregulation of PIP5K1C indicate suppression of the Th1 response due to MAP infection and loss of granuloma integrity. 29698503 2018