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: 28469
Gene Symbol: IGHV1-17
IGHV1-17
immunoglobulin heavy variable 1-17 (pseudogene)
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1983 1983
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.100 None 0.909 11 0 1992 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.020 None 1.000 2 0 2017 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.070 None 1.000 7 0 1999 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1997 1997
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
EPH receptor B2 0.374 0.846 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2001 2001
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1440
Gene Symbol: CSF3
CSF3
colony stimulating factor 3 0.377 0.885 0.38
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1993 1993
Entrez Id: 2247
Gene Symbol: FGF2
FGF2
fibroblast growth factor 2 0.383 0.923 1.8E-02
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.020 None 1.000 2 0 2005 2012
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3107
Gene Symbol: HLA-C
HLA-C
major histocompatibility complex, class I, C 0.415 0.846 1.6E-06
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1987 1987
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2010 2010
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2009 2009