Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 GeneticVariation disease BEFREE Haploinsufficiency of Klippel-Trenaunay syndrome gene Aggf1 inhibits developmental and pathological angiogenesis by inactivating PI3K and AKT and disrupts vascular integrity by activating VE-cadherin. 27522498 2016
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 AlteredExpression disease BEFREE We have previously reported that upregulation of angiogenic factor AGGF1 is associated with KTS, but the molecular mechanism is not clear. 23197652 2013
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 Biomarker disease BEFREE AGGF1 is an angiogenic factor, and its deregulation is associated with a vascular malformation consistent with Klippel-Trenaunay syndrome (KTS). 19556247 2009
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 GeneticVariation disease BEFREE These results suggest that common AGGF1 variants confer risk of KTS. 18564129 2008
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 SusceptibilityMutation disease ORPHANET These results suggest that common AGGF1 variants confer risk of KTS. 18564129 2008
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 GeneticVariation disease BEFREE The findings bring into question the assertion that VG5Q, E133K is a mutation and that it causes KTS. 16443853 2006
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 Biomarker disease BEFREE AGGF1 encodes a potent angiogenic factor, and KTS-associated mutations enhance angiogenic activity of AGGF1, defining 'increased angiogenesis' as one molecular mechanism for the pathogenesis of KTS. 15905966 2005
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 Biomarker disease BEFREE These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome. 16379592 2005
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 Biomarker disease BEFREE Here we use human genetics as an approach to identify an angiogenic factor, VG5Q, and further define two genetic defects of VG5Q in patients with the vascular disease Klippel-Trenaunay syndrome (KTS). 14961121 2004
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		0.580 GeneticVariation disease UNIPROT Here we use human genetics as an approach to identify an angiogenic factor, VG5Q, and further define two genetic defects of VG5Q in patients with the vascular disease Klippel-Trenaunay syndrome (KTS). 14961121 2004
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 Biomarker disease BEFREE Here the authors uncover a pathway whereby AGGF1 blocks ER stress by inhibiting ERK1/2 activation and the transcriptional repressor ZEB1, leading to induction of miR-183-5p and down-regulation of CHOP, and show that AGGF1 can effectively treat cardiac hypertrophy and heart failure. 28743963 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 Biomarker disease HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO
CUI: C0007642
Disease: Cellulitis
Cellulitis 		0.100 Biomarker phenotype HPO
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.100 Biomarker disease HPO
CUI: C0018965
Disease: Hematuria
Hematuria 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.100 Biomarker disease HPO
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.100 Biomarker disease HPO