MEGF8, multiple EGF like domains 8, 1954

N. diseases: 89; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.820 GeneticVariation disease BEFREE Mutations of the gene MEGF8 cause Carpenter syndrome in humans, and the mouse orthologue has been functionally associated with Nodal and Bmp4 signalling. 29884872 2018
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.820 GermlineCausalMutation disease ORPHANET We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members. 23063620 2012
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.820 GeneticVariation disease BEFREE We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members. 23063620 2012
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.820 Biomarker disease CTD_human
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.820 Biomarker disease GENOMICS_ENGLAND
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.820 Biomarker disease MGD
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 23063620 2012
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 23063620 2012
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.600 CausalMutation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 23063620 2012
CUI: C4551510
Disease: CARPENTER SYNDROME 1
CARPENTER SYNDROME 1 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		0.200 Biomarker disease MGD
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.200 Biomarker disease MGD
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO