WDR60, WD repeat domain 60, 55112

N. diseases: 91; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
0.620 CausalMutation disease CLINVAR
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
0.600 Biomarker disease GENOMICS_ENGLAND
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
0.600 CausalMutation disease CLINVAR
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
0.600 GeneticVariation disease CLINVAR
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
0.400 Biomarker disease CTD_human
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
0.400 CausalMutation disease CLINVAR
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
0.310 Biomarker disease CTD_human
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
0.300 Biomarker disease CTD_human
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.100 Biomarker phenotype HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.100 Biomarker disease HPO
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.100 Biomarker disease HPO
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital
0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia
0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
0.100 Biomarker phenotype HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
0.100 Biomarker disease HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
0.100 Biomarker disease HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.100 Biomarker group HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0025995
Disease: Micromelia
Micromelia
0.100 Biomarker disease HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
0.100 Biomarker group HPO