WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.690 Biomarker disease GENOMICS_ENGLAND
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.690 Biomarker disease CTD_human
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.690 Biomarker disease GENOMICS_ENGLAND
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4747658
Disease: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 		0.600 CausalMutation disease CLINVAR
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.420 GeneticVariation disease CLINVAR
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.420 Biomarker disease CTD_human
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.410 Biomarker disease HPO
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		0.400 Biomarker disease HPO
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 Biomarker disease GENOMICS_ENGLAND
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		0.190 CausalMutation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.120 Biomarker disease HPO
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.110 CausalMutation disease CLINVAR
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.110 GeneticVariation group CLINVAR
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.110 GeneticVariation disease CLINVAR
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0001122
Disease: Acidosis
Acidosis 		0.100 Biomarker phenotype HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO