Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 GeneticVariation disease BEFREE Recently, causative variants in SPECC1L were reported in a pedigree reported in 1988 as atypical Opitz GBBB syndrome. 30472488 2019
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 GeneticVariation disease BEFREE SPECC1L causative variants were first identified in individuals with oblique facial clefts. 30472488 2019
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. 25412741 2015
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 GeneticVariation disease UNIPROT Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. 25412741 2015
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 Biomarker disease GENOMICS_ENGLAND Here we report on two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. 26111080 2015
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 Biomarker disease GENOMICS_ENGLAND Here we report on two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. 26111080 2015
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 GeneticVariation disease BEFREE Here we report on two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. 26111080 2015
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 GermlineCausalMutation disease ORPHANET Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. 25412741 2015
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 Biomarker disease GENOMICS_ENGLAND Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. 26111080 2015
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 Biomarker disease BEFREE Previously, SPECC1L was shown to be required for proper facial morphogenesis with disruptions identified in two patients with oblique facial clefts. 25412741 2015
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 Biomarker disease GENOMICS_ENGLAND Previously, SPECC1L was shown to be required for proper facial morphogenesis with disruptions identified in two patients with oblique facial clefts. 25412741 2015
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 GeneticVariation disease UNIPROT Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. 21703590 2011
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 Biomarker disease GENOMICS_ENGLAND Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. 21703590 2011
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 GermlineCausalMutation disease ORPHANET Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. 21703590 2011
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 GeneticVariation disease CLINVAR
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 CausalMutation disease CLINVAR
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.720 Biomarker disease CTD_human
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 Biomarker disease CTD_human
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		0.720 CausalMutation disease CLINVAR
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome 		0.710 GermlineCausalMutation disease ORPHANET We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome 		0.710 GeneticVariation disease UNIPROT We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome 		0.710 GeneticVariation disease BEFREE Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. 26111080 2015
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C0796179
Disease: Teebi syndrome
Teebi syndrome 		0.710 GeneticVariation disease CLINVAR