Gene: POMK ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84197
Gene Symbol: POMK
POMK 		0.410 Biomarker disease BEFREE Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12). 31833209 2020
Entrez Id: 84197
Gene Symbol: POMK
POMK 		0.410 Biomarker disease GENOMICS_ENGLAND A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. 29910097 2018
Entrez Id: 84197
Gene Symbol: POMK
POMK 		0.410 Biomarker disease HPO