MEGF8, multiple EGF like domains 8, 1954

N. diseases: 89; N. variants: 5
Disease: Acrocephalopolysyndactyly type 2 ×
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