Source: BEFREE

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: 100750329
Gene Symbol: TET18P
TET18P
Tetrasomy 18p 1.000 0.038
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1986 1986
Entrez Id: 255967
Gene Symbol: PAN3
PAN3
poly(A) specific ribonuclease subunit PAN3 0.890 0.115 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 203430
Gene Symbol: RTL3
RTL3
retrotransposon Gag like 3 0.890 0.269 4.4E-11
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 340595
Gene Symbol: RTL4
RTL4
retrotransposon Gag like 4 0.890 0.269 3.4E-06
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 57381
Gene Symbol: RHOJ
RHOJ
ras homolog family member J 0.686 0.308 6.4E-03
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.020 None 1.000 2 0 1997 2002
Entrez Id: 220107
Gene Symbol: DLEU7
DLEU7
deleted in lymphocytic leukemia 7 0.705 0.346 0.18
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1987 1987
Entrez Id: 8909
Gene Symbol: ENDOU
ENDOU
endonuclease, poly(U) specific 0.682 0.423 3.2E-14
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1996 1996
Entrez Id: 118460
Gene Symbol: EXOSC6
EXOSC6
exosome component 6 0.674 0.462 0.52
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1996 1996
Entrez Id: 202
Gene Symbol: CRYBG1
CRYBG1
crystallin beta-gamma domain containing 1 0.743 0.462 3.5E-33
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2012 2012
Entrez Id: 55272
Gene Symbol: IMP3
IMP3
IMP U3 small nucleolar ribonucleoprotein 3 0.566 0.462 1.5E-07
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2016 2016
Entrez Id: 7502
Gene Symbol: XIC
XIC
X chromosome inactivation center 0.821 0.462
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1982 1982
Entrez Id: 8115
Gene Symbol: TCL1A
TCL1A
T cell leukemia/lymphoma 1A 0.558 0.500 5.7E-10
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 9623
Gene Symbol: TCL1B
TCL1B
T cell leukemia/lymphoma 1B 0.561 0.500 1.0E-02
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 26039
Gene Symbol: SS18L1
SS18L1
SS18L1 subunit of BAF chromatin remodeling complex 0.670 0.538 0.98
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1990 1990
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
solute carrier family 45 member 2 0.626 0.538 1.7E-06
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2012 2012
Entrez Id: 23089
Gene Symbol: PEG10
PEG10
paternally expressed 10 0.597 0.615 0.87
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.020 None 1.000 2 0 1983 1996
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
lactate dehydrogenase B 0.604 0.615 5.0E-06
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1987 1987
Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
immunoglobulin heavy variable 1-12 (pseudogene) 0.569 0.654
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.100 None 1.000 38 0 1984 2019
Entrez Id: 369
Gene Symbol: ARAF
ARAF
A-Raf proto-oncogene, serine/threonine kinase 0.619 0.654 0.96
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
paired box 1 0.593 0.654 0.70
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5079
Gene Symbol: PAX5
PAX5
paired box 5 0.487 0.654 1.00
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.020 None 1.000 2 0 2004 2009
Entrez Id: 6419
Gene Symbol: SETMAR
SETMAR
SET domain and mariner transposase fusion gene 0.617 0.692 1.0E-04
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.020 None 1.000 2 0 1983 1996
Entrez Id: 7841
Gene Symbol: MOGS
MOGS
mannosyl-oligosaccharide glucosidase 0.626 0.731 5.8E-11
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype 0.010 None 1.000 1 0 1997 1997