Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.600 GeneticVariation disease UNIPROT Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 20087400 2010
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.600 GeneticVariation disease UNIPROT Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 18775957 2008
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.600 GeneticVariation disease CLINVAR
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Introduction of a point of mutation into HES7, a specific mutation previously associated with clinical SCDO, eliminated clock gene oscillations, successfully reproducing the defects in the segmentation clock. 31461642 2019
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. 23897666 2013
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 20087400 2010
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 GeneticVariation disease BEFREE Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 18775957 2008
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
0.440 CausalMutation disease CLINVAR
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
0.310 GeneticVariation disease BEFREE Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. 25659135 2015
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
0.310 Biomarker disease CTD_human
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
0.300 Biomarker disease CTD_human
CUI: C4017128
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4
SPONDYLOCOSTAL DYSOSTOSIS 4
0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
0.100 Biomarker phenotype HPO
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO