Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.110 GeneticVariation disease BEFREE A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins. 30471091 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.110 Biomarker disease HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker phenotype HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0578038
Disease: Thin lips
Thin lips 		0.100 Biomarker phenotype HPO
CUI: C1835884
Disease: Triangular face
Triangular face 		0.100 Biomarker phenotype HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1839783
Disease: Large forehead
Large forehead 		0.100 Biomarker phenotype HPO
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		0.100 Biomarker phenotype HPO
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.100 Biomarker phenotype HPO
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 Biomarker disease BEFREE Together, the results indicated that downregulated HS6ST2 targeted by miR-23b-3p promotes matrix degradation by activating p38 MAPK in chondrocytes and OA cartilage. 29899528 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 Biomarker disease BEFREE Down-regulated HS6ST2 in osteoarthritis and Kashin-Beck disease inhibits cell viability and influences expression of the genes relevant to aggrecan metabolism of human chondrocytes. 21972422 2011
CUI: C0027092
Disease: Myopia
Myopia 		0.010 GeneticVariation disease BEFREE Taken together, the results suggest that mutant HS6ST2 is possibly involved in the development of myopia and cognitive impairment, characteristics of the probands reported here. 30471091 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 GeneticVariation disease BEFREE Taken together, the results suggest that mutant HS6ST2 is possibly involved in the development of myopia and cognitive impairment, characteristics of the probands reported here. 30471091 2019