Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0157743
Disease: Vibratory urticaria
Vibratory urticaria 		0.620 GeneticVariation disease BEFREE This includes the Mas-related G protein-coupled receptor X2, which might contribute to reactions to diverse antimicrobials and polybasic compounds, and the adhesion G protein-coupled receptor E2, variants of which are associated with familial vibratory urticaria and are activated by mechanical vibration. 29454835 2018
CUI: C0157743
Disease: Vibratory urticaria
Vibratory urticaria 		0.620 CausalMutation disease CLINVAR
CUI: C0157743
Disease: Vibratory urticaria
Vibratory urticaria 		0.620 GeneticVariation disease BEFREE We identified a previously unknown missense substitution in ADGRE2 (also known as EMR2), which was predicted to result in the replacement of cysteine with tyrosine at amino acid position 492 (p.C492Y), as the only nonsynonymous variant cosegregating with vibratory urticaria in two large kindreds. 26841242 2016
CUI: C0157743
Disease: Vibratory urticaria
Vibratory urticaria 		0.620 GermlineCausalMutation disease ORPHANET Vibratory Urticaria Associated with a Missense Variant in ADGRE2. 26841242 2016
CUI: C0157743
Disease: Vibratory urticaria
Vibratory urticaria 		0.620 GeneticVariation disease UNIPROT Vibratory Urticaria Associated with a Missense Variant in ADGRE2. 26841242 2016
CUI: C1852146
Disease: DERMODISTORTIVE URTICARIA
DERMODISTORTIVE URTICARIA 		0.500 GermlineCausalMutation disease ORPHANET Vibratory Urticaria Associated with a Missense Variant in ADGRE2. 26841242 2016
CUI: C1852146
Disease: DERMODISTORTIVE URTICARIA
DERMODISTORTIVE URTICARIA 		0.500 Biomarker disease CTD_human
CUI: C0473546
Disease: Vibratory angioedema
Vibratory angioedema 		0.300 GermlineCausalMutation disease ORPHANET Vibratory Urticaria Associated with a Missense Variant in ADGRE2. 26841242 2016
CUI: C1852145
Disease: Familial dermographism
Familial dermographism 		0.300 Biomarker disease CTD_human
CUI: C0042109
Disease: Urticaria
Urticaria 		0.100 Biomarker disease HPO
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT The PHF21B gene is associated with major depression and modulates the stress response. 27777418 2017
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 AlteredExpression disease BEFREE CD97 expression is related closely to the dedifferentiation and tumor stage in thyroid carcinomas. 12428789 2002
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 AlteredExpression disease BEFREE CD97 is an EGF-TM7 receptor found on various carcinomas where expression levels correlate with dedifferentiation and tumor stage, smooth muscle cells and leukocytes. 15386373 2004
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 AlteredExpression disease BEFREE Intratumoral progression also showed that CD97 expression correlates with invasiveness and dedifferentiation. 22797060 2013
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 AlteredExpression disease BEFREE CD97 is over-expressed in the majority of gastric adenocarcinomas and is associated with its dedifferentiation and aggressiveness. 22768192 2012
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 AlteredExpression disease BEFREE The data suggest that CD97 expression may be a sensitive marker of dedifferentiation and of lymph node involvement in human thyroid tumors. 9135025 1997
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 AlteredExpression disease BEFREE In summary, CD97 expression correlates with dedifferentiation, migration, and invasion in colorectal tumor cell lines. 12414513 2002
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 AlteredExpression disease BEFREE Various studies revealed that elevated expression of CD97 in carcinomas is associated with the dedifferentiation, aggressiveness and metastasis of tumour. 30883974 2019
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.080 Biomarker disease BEFREE Studies have demonstrated the involvement of CD97 in dedifferentiation, migration, invasiveness, and metastasis of tumors. 29704239 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.060 Biomarker disease BEFREE Given its proven roles in tumor invasion, expression among aggressive genetic subtypes of GBM, and association with overall survival, CD97 is an attractive therapeutic target for patients with GBM. 25714433 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.060 Biomarker disease BEFREE Gene expression data relating to the invasion-associated proteins ITGA5 (integrin α5), CD97, and ANXA1 (annexin A1) showed prognostic significance in independent GBM cohorts. 25853691 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.060 Biomarker disease BEFREE When comparing cells transfected with siRNA targeting EMR2 to those transfected with a negative, scramble control, there was no difference in proliferation over 72 h in the SF767 and G55 glioblastoma cell lines. 21503828 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.060 AlteredExpression disease BEFREE Of these, CD97 expression was consistently suppressed across the 3 different GBM cell lines studied and was found on further investigation to significantly impact GBM cell invasiveness. 22313360 2012
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.060 Biomarker disease BEFREE CD97 promotes invasion and migration in GBM, but has no effect on tumor proliferation. 23658650 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.060 Biomarker disease BEFREE The authors suggest that further research into WT1 and CD97 will allow clinicians to begin to deal more effectively with the infiltrative behavior displayed by GBM and design new therapies that target this deadly disease. 25434383 2014