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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 79 5 1991 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.957 46 0 1999 2019
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.923 39 0 1994 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.972 36 0 1990 2017
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.969 32 0 1980 2017
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.964 28 0 1990 2018
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
ETS variant transcription factor 6 0.477 0.731 0.97
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 27 0 1996 2018
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.920 25 0 1988 2018
Entrez Id: 2944
Gene Symbol: GSTM1
GSTM1
glutathione S-transferase mu 1 0.380 0.923 2.1E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.960 25 0 1996 2017
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.955 22 0 1991 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 21 0 1997 2019
Entrez Id: 102723407
Gene Symbol: LOC102723407
LOC102723407
immunoglobulin heavy variable 4-38-2-like 0.514 0.769
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 20 0 2004 2019
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 20 0 1997 2016
Entrez Id: 102724971
Gene Symbol: LOC102724971
LOC102724971
putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 0.527 0.769
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 20 0 2004 2019
Entrez Id: 947
Gene Symbol: CD34
CD34
CD34 molecule 0.368 0.808 5.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 20 0 1993 2012
Entrez Id: 3492
Gene Symbol: IGH
IGH
immunoglobulin heavy locus 0.473 0.654
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.947 19 0 2003 2019
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1
glutathione S-transferase theta 1 0.393 0.923 1.5E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.947 19 0 1996 2016
Entrez Id: 28402
Gene Symbol: IGHV3-69-1
IGHV3-69-1
immunoglobulin heavy variable 3-69-1 (pseudogene) 0.561 0.654
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 19 0 2004 2019
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.468 0.769 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.889 18 0 1984 2012
Entrez Id: 923
Gene Symbol: CD6
CD6
CD6 molecule 0.489 0.808 9.3E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 17 0 1988 2016
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
zeta chain of T cell receptor associated protein kinase 70 0.497 0.769 0.88
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.882 17 0 2004 2018
Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
immunoglobulin heavy variable 1-12 (pseudogene) 0.569 0.654
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.875 16 0 1984 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 16 0 2001 2018
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
X-ray repair cross complementing 1 0.421 0.923 6.3E-09
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 16 3 2004 2017
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
high mobility group AT-hook 2 0.429 0.808 0.87
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.933 15 0 1996 2015