B4GALT7, beta-1,4-galactosyltransferase 7, 11285

N. diseases: 79; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease GENOMICS_ENGLAND Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation. 27827381 2017
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease GENOMICS_ENGLAND The Ehlers-Danlos syndromes, rare types. 28306225 2017
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease GENOMICS_ENGLAND This study expands the phenotypic spectrum of B4GALT7 mutations, initially described as responsible for the progeroid variant of Ehlers-Danlos syndrome. 24755949 2015
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 GeneticVariation disease BEFREE This study expands the phenotypic spectrum of B4GALT7 mutations, initially described as responsible for the progeroid variant of Ehlers-Danlos syndrome. 24755949 2015
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 GeneticVariation disease BEFREE Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers-Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. 23956117 2013
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease GENOMICS_ENGLAND A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. 15211654 2004
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease BEFREE Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. 12417421 2002
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 GeneticVariation disease UNIPROT Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 10506123 1999
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease GENOMICS_ENGLAND Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. 3631078 1987
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 CausalMutation disease CLINVAR
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		0.730 Biomarker disease CTD_human
CUI: C1869122
Disease: EHLERS-DANLOS SYNDROME, PROGEROID FORM
EHLERS-DANLOS SYNDROME, PROGEROID FORM 		0.500 GermlineCausalMutation disease ORPHANET A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. 15211654 2004
CUI: C1869122
Disease: EHLERS-DANLOS SYNDROME, PROGEROID FORM
EHLERS-DANLOS SYNDROME, PROGEROID FORM 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression. 16759393 2006
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.110 Biomarker disease BEFREE These findings expand the phenotype of B4GALT7-related linkeropathies to include lethal skeletal dysplasia due to more severe loss of function. 31278392 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. 28882145 2017
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 Biomarker disease BEFREE To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. 28882145 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease BEFREE To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. 28882145 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.110 CausalMutation disease CLINVAR
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.100 Biomarker disease BEFREE Our report extends the phenotypic spectrum of B4GALT7-associated spondylodysplastic Ehlers-Danlos syndrome and reports results of growth hormone treatment for patients with this rare disorder. 30914273 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018