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: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease 0.420 None 1.000 0 0 2006 2012
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 None 1.000 0 0 2004 2019
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease 0.130 None 1.000 0 0 2003 2014
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.120 None 1.000 0 0 2019 2019
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.110 None 1.000 0 0 2008 2008
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1850348
Disease: Hypodysplasia of the corpus callosum
Hypodysplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0575497
Disease: Short sternum
Short sternum 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		disease 0.100 None 0 0