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: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0030193
Disease: Pain
Pain 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0031941
Disease: Pineal Gland Neoplasm
Pineal Gland Neoplasm 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1848435
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS 		disease 0.100 None 0 1
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		disease 0.100 None 0 1
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		disease 0.300 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0496956
Disease: Neoplasm of uncertain or unknown behavior of breast
Neoplasm of uncertain or unknown behavior of breast 		disease 0.300 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		disease 0.300 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		disease 0.300 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		disease 0.300 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease 0.100 None 0 0