KIAA0556, KIAA0556, 23247

N. diseases: 60; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.100 Biomarker disease HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.100 Biomarker disease HPO
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.100 Biomarker disease HPO
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		0.100 Biomarker disease HPO
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		0.100 Biomarker disease HPO
CUI: C1836047
Disease: Long face
Long face 		0.100 Biomarker phenotype HPO
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		0.100 Biomarker phenotype HPO
CUI: C1855350
Disease: Inferior vermis hypoplasia
Inferior vermis hypoplasia 		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: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		0.100 Biomarker phenotype HPO