GPKOW, G-patch domain and KOW motifs, 27238

N. diseases: 37; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1844016
Disease: Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence
Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence 		0.300 GermlineCausalMutation phenotype ORPHANET Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. 28612833 2017
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.110 Biomarker phenotype BEFREE Based on our and published data we propose that the GPKOW gene is essential for fetal development and when disrupted, leads to a severe, male-lethal phenotype characterised by microcephaly and IUGR. 28612833 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE Based on our and published data we propose that the GPKOW gene is essential for fetal development and when disrupted, leads to a severe, male-lethal phenotype characterised by microcephaly and IUGR. 28612833 2017
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.110 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.100 Biomarker disease HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		0.100 Biomarker disease HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		0.100 Biomarker phenotype HPO
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.100 Biomarker phenotype HPO
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.100 Biomarker phenotype HPO
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		0.100 Biomarker phenotype HPO
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		0.100 Biomarker phenotype HPO
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon 		0.100 Biomarker phenotype HPO
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		0.100 Biomarker phenotype HPO
CUI: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura 		0.100 Biomarker disease HPO