Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.300 Biomarker group CTD_human Dental anomalies in a child with craniometaphysial dysplasia. 18027777 2007
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Dental anomalies in a child with craniometaphysial dysplasia. 18027777 2007
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.110 Biomarker group HPO
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.110 AlteredExpression group BEFREE The upregulation of ANK expression in OA cartilage and the capacity of increased ANK expression to induce MMP-13 and to promote matrix loss suggest that increased ANK expression and ecPP(i) exert noxious effects in degenerative arthropathies beyond stimulation of calcification. 15023384 2004
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.100 GeneticVariation group GWASCAT Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. 27005778 2016
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.100 GeneticVariation group GWASCAT Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. 27005778 2016
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.010 Biomarker group BEFREE Biochemical and genetic analysis of ANK in arthritis and bone disease. 17186460 2006
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.010 GeneticVariation group BEFREE To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. 23726953 2013
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		0.010 GeneticVariation group BEFREE This study aimed to carry out a histological examination of the temporomandibular joint (TMJ) in ank mutant mice and to identify polymorphisms of the human ANKH gene in order to establish the relationship between the type of temporomandibular disorders (TMD) and ANKH polymorphisms. 22003394 2011
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.010 Biomarker group BEFREE These results suggest a role for ANKH in sporadic CPPD disease and in CPPD associated with degenerative disease. 15474385 2004
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE A mutation within the ANKH gene on chromosome 5p has been found previously in this family; other patients with familial CCAL (but without seizures) have mutations in the same gene. 15461680 2004
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype LHGDN A mutation within the ANKH gene on chromosome 5p has been found previously in this family; other patients with familial CCAL (but without seizures) have mutations in the same gene. 15461680 2004
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.120 AlteredExpression phenotype BEFREE Progressive ankylosis (Ank) protein is expressed by neurons and Ank immunohistochemical reactivity is increased by limbic seizures. 12861042 2003
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		0.100 Biomarker phenotype HPO
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
CUI: C0152031
Disease: Joint swelling
Joint swelling 		0.100 Biomarker phenotype HPO
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO