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: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C1839126
Disease: Premature posterior fontanelle closure
Premature posterior fontanelle closure 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		disease 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C4021300
Disease: Prominent palatine ridges
Prominent palatine ridges 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C4024588
Disease: Aplasia/Hypoplasia of the frontal sinuses
Aplasia/Hypoplasia of the frontal sinuses 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 10736
Gene Symbol: SIX2
SIX2 		SIX homeobox 2 0.604 0.654 0.94
CUI: C4025688
Disease: Abnormality of the skull base
Abnormality of the skull base 		disease 0.100 None 0 0