Source: ALL

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: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		disease 0.310 None 1.000 2 0 2013 2018
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease 0.120 None 1.000 2 0 2003 2017
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0