RPS23, ribosomal protein S23, 6228

N. diseases: 37; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		0.700 CausalMutation disease CLINVAR
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		0.700 Biomarker disease CTD_human
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837402
Disease: Flat occiput
Flat occiput 		0.100 Biomarker phenotype HPO
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 Biomarker phenotype HPO
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO