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: C1843108
Disease: Short palm
Short palm 		0.100 Biomarker phenotype HPO
CUI: C1854912
Disease: Short long bone
Short long bone 		0.100 Biomarker phenotype HPO
CUI: C0576226
Disease: Short foot
Short foot 		0.100 Biomarker phenotype HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE In the haplotype analysis, rs2788478 G-rs2657375 T-rs1039621 A within the region between WDR60 and ESYT genes and rs2013 C (ESYT2)-rs6459896 A (NCAPG2) haplotypes were associated with SCZ in the same sample. 28508933 2017
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: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.100 Biomarker phenotype HPO
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.100 Biomarker disease HPO
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.100 Biomarker disease HPO
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		0.100 Biomarker disease HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease GENOMICS_ENGLAND Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462 2013
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 GeneticVariation disease BEFREE Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 29271569 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 GeneticVariation disease BEFREE Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462 2013
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.100 Biomarker disease HPO
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 Biomarker phenotype HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.100 Biomarker phenotype HPO