SEM1, SEM1 26S proteasome complex subunit, 7979

N. diseases: 61; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.350 Biomarker disease GENOMICS_ENGLAND
CUI: C0221373
Disease: Claw hand
Claw hand 		0.170 Biomarker disease HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		0.100 Biomarker disease HPO
CUI: C0426868
Disease: Absence of hand
Absence of hand 		0.100 Biomarker phenotype HPO
CUI: C0728895
Disease: Absent finger
Absent finger 		0.100 Biomarker disease HPO
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		0.100 Biomarker disease HPO
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.350 GeneticVariation disease BEFREE These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7. 7606850 1995
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.340 GeneticVariation disease BEFREE These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7. 7606850 1995
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 GeneticVariation disease BEFREE These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7. 7606850 1995
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 Biomarker group BEFREE In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. 7912888 1994
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.350 GeneticVariation disease BEFREE Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder). 7987314 1994
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.340 GeneticVariation disease BEFREE Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder). 7987314 1994
CUI: C0221373
Disease: Claw hand
Claw hand 		0.170 Biomarker disease BEFREE Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder). 7987314 1994
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 GeneticVariation disease BEFREE Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder). 7987314 1994
CUI: C0432028
Disease: Split foot
Split foot 		0.060 GeneticVariation disease BEFREE Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder). 7987314 1994
CUI: C0221373
Disease: Claw hand
Claw hand 		0.170 GeneticVariation disease BEFREE Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. 8023840 1994
CUI: C0432028
Disease: Split foot
Split foot 		0.060 GeneticVariation disease BEFREE To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. 8023840 1994
CUI: C0432028
Disease: Split foot
Split foot 		0.060 GeneticVariation disease BEFREE Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. 8733122 1996
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		0.030 AlteredExpression disease BEFREE A deficiency in expression of Dss1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes. 8733122 1996
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.350 Biomarker disease BEFREE This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly. 8782053 1996
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.340 Biomarker disease BEFREE This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly. 8782053 1996
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.080 Biomarker disease BEFREE This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly. 8782053 1996