Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.020 Biomarker disease BEFREE MATER (maternal antigen that embryos require) is a known ovarian autoantigen targeted in autoimmune syndromes of POI. 21447630 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.020 Biomarker disease LHGDN Characterization of the human MATER and its protein provides a basis for investigating their clinical implications in autoimmune premature ovarian failure and infertility in women. 11925379 2002
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE Most interesting was the finding that the enigmatic development-related NLRP5 (also known as MATER) was not expressed in normal colon tissue but in colon cancer tissue and cell lines. 29928061 2018
CUI: C0014179
Disease: Endometritis
Endometritis 		0.010 Biomarker disease BEFREE The "RESEAU MATER": An efficient infection control for endometritis, but not for urinary tract infection after vaginal delivery. 27592614 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE Most interesting was the finding that the enigmatic development-related NLRP5 (also known as MATER) was not expressed in normal colon tissue but in colon cancer tissue and cell lines. 29928061 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 GeneticVariation disease BEFREE In addition, PSMG4 p.W99R and NLRP5 p.R761L were found to correlate with an earlier age at MS clinical onset, and MC1R p.R160W with delayed onset of clinical symptoms (p=0.010-0.041). 28501589 2017
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 GeneticVariation phenotype BEFREE CACNA1H p.R1871Q was found associated with patients presenting relapsing remitting MS at clinical onset (p=0.028) whereas NLRP5 p.M459I and EIF2AK1 p.K558R were associated with primary progressive disease (p=0.031 and 0.023). 28501589 2017
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 GeneticVariation disease BEFREE CACNA1H p.R1871Q was found associated with patients presenting relapsing remitting MS at clinical onset (p=0.028) whereas NLRP5 p.M459I and EIF2AK1 p.K558R were associated with primary progressive disease (p=0.031 and 0.023). 28501589 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Offspring of mothers with NLRP5 mutations have heterogenous clinical and epigenetic features, but cases include a discordant monozygotic twin pair, individuals with idiopathic developmental delay and autism, and families affected by infertility and reproductive wastage. 26323243 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE Offspring of mothers with NLRP5 mutations have heterogenous clinical and epigenetic features, but cases include a discordant monozygotic twin pair, individuals with idiopathic developmental delay and autism, and families affected by infertility and reproductive wastage. 26323243 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 AlteredExpression group BEFREE Transgenic expression of MATER in APC can induce antigen-specific tolerance with a significant reduction in ovarian autoimmunity. 21447630 2011
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		0.010 GeneticVariation disease BEFREE As a known autoantigen in the human APS1 (autoimmune polyglandular syndrome type 1), which is associated with POI, MATER may represent a relevant target for future diagnostic and therapeutic clinical interventions. 21447630 2011
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.010 Biomarker disease LHGDN Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. 18322283 2008
CUI: C0021359
Disease: Infertility
Infertility 		0.010 Biomarker phenotype LHGDN Characterization of the human MATER and its protein provides a basis for investigating their clinical implications in autoimmune premature ovarian failure and infertility in women. 11925379 2002