Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
0.110 GeneticVariation disease BEFREE Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. 27071622 2016
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
0.110 Biomarker disease HPO
Entrez Id: 846
Gene Symbol: CASR
CASR
0.100 CausalMutation disease CLINVAR [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report]. 15751724 2004
Entrez Id: 846
Gene Symbol: CASR
CASR
0.100 CausalMutation disease CLINVAR In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. 9011580 1997
Entrez Id: 846
Gene Symbol: CASR
CASR
0.100 CausalMutation disease CLINVAR Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. 8702647 1996
Entrez Id: 846
Gene Symbol: CASR
CASR
0.100 CausalMutation disease CLINVAR A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems. 791660 1976
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
0.100 Biomarker disease HPO
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
0.100 Biomarker disease HPO
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
0.100 CausalMutation disease CLINVAR
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
0.100 Biomarker disease HPO
Entrez Id: 284098
Gene Symbol: PIGW
PIGW
0.100 Biomarker disease HPO
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
0.100 Biomarker disease HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
0.100 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.100 Biomarker disease HPO
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.100 GeneticVariation disease CLINVAR
Entrez Id: 202018
Gene Symbol: TAPT1
TAPT1
0.100 Biomarker disease HPO
Entrez Id: 84992
Gene Symbol: PIGY
PIGY
0.100 Biomarker disease HPO
Entrez Id: 91179
Gene Symbol: SCARF2
SCARF2
0.100 Biomarker disease HPO
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
0.100 Biomarker disease HPO
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
0.100 Biomarker disease HPO
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
0.100 Biomarker disease HPO
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
0.100 Biomarker disease HPO
Entrez Id: 7473
Gene Symbol: WNT3
WNT3
0.100 Biomarker disease HPO
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2
0.100 Biomarker disease HPO
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
0.100 Biomarker disease HPO