Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1855350
Disease: Inferior vermis hypoplasia
Inferior vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556 		KIAA0556 0.644 0.538 1.2E-29
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0