Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 Biomarker disease CTD_human
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.480 Biomarker disease HPO
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.430 Biomarker phenotype HPO
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		0.130 Biomarker disease HPO
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		0.100 Biomarker disease HPO
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.100 Biomarker disease HPO
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.100 Biomarker group HPO
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.100 Biomarker disease HPO
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		0.100 Biomarker phenotype HPO
CUI: C1527284
Disease: Dental Pulp Stone
Dental Pulp Stone 		0.100 Biomarker disease HPO
CUI: C1968899
Disease: Decreased renal tubular phosphate excretion
Decreased renal tubular phosphate excretion 		0.100 Biomarker phenotype HPO
CUI: C1968901
Disease: Conjunctival whitish salt-like deposits
Conjunctival whitish salt-like deposits 		0.100 Biomarker phenotype HPO
CUI: C1968910
Disease: Increased renal tubular phosphate reabsorption
Increased renal tubular phosphate reabsorption 		0.100 Biomarker phenotype HPO
CUI: C2674853
Disease: Subperiosteal bone formation
Subperiosteal bone formation 		0.100 Biomarker phenotype HPO
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.020 GeneticVariation disease BEFREE HHS shares several clinical and metabolic features with hyperphosphatemic familial tumoral calcinosis (HFTC), which is caused by mutations in GALNT3 encoding a glycosyltransferase responsible for initiating O-glycosylation. 15599692 2005
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.020 GeneticVariation disease BEFREE HHS shares several clinical and metabolic features with hyperphosphatemic familial tumoral calcinosis (HFTC), which is caused by mutations in GALNT3 encoding a glycosyltransferase responsible for initiating O-glycosylation. 15599692 2005
CUI: C4551976
Disease: HYPOTRICHOSIS 1
HYPOTRICHOSIS 1 		0.020 GeneticVariation disease BEFREE HHS shares several clinical and metabolic features with hyperphosphatemic familial tumoral calcinosis (HFTC), which is caused by mutations in GALNT3 encoding a glycosyltransferase responsible for initiating O-glycosylation. 15599692 2005
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.020 GeneticVariation disease BEFREE HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. 17311862 2007
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.020 GeneticVariation disease BEFREE HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. 17311862 2007
CUI: C4551976
Disease: HYPOTRICHOSIS 1
HYPOTRICHOSIS 1 		0.020 GeneticVariation disease BEFREE HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. 17311862 2007
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.010 GeneticVariation disease BEFREE Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. 19751230 2010
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.800 GeneticVariation disease BEFREE Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes. 25153226 2015
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		0.050 GeneticVariation disease BEFREE Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes. 25153226 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease LHGDN GalNAc-T3 was positively detected in the majority of the cases of SCC, but not in dysplasia as well as the normal counterparts in resected esophagus. 15860931 2005