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: 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: 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: 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: 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: 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: 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: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
immunoglobulin heavy variable 3/OR16-7 (pseudogene) 0.566 0.654
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 15 0 2005 2019
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
T cell receptor beta variable 20/OR9-2 (non-functional) 0.403 0.923
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 12 0 1990 2011
Entrez Id: 100310785
Gene Symbol: ALL1
ALL1
Leukemia, acute lymphocytic, susceptibility to, 1 0.636 0.269
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.050 None 1.000 5 0 1994 2007
Entrez Id: 100653382
Gene Symbol: DEL13Q14
DEL13Q14
Chromosome 13q14 deletion syndrome 0.805 0.192
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 0.750 4 0 2011 2019
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 1.000 4 0 1999 2017
Entrez Id: 560
Gene Symbol: AZF1
AZF1
azoospermia factor 1 0.711 0.269
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 1.000 4 0 2005 2019
Entrez Id: 105379528
Gene Symbol: LOC105379528
LOC105379528
uncharacterized LOC105379528 0.617 0.615
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 2005 2014
Entrez Id: 115482684
Gene Symbol: H3P9
H3P9
H3 histone pseudogene 9 0.505 0.731
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 2004 2012
Entrez Id: 390714
Gene Symbol: LOC390714
LOC390714
immunoglobulin heavy chain variable region 0.617 0.615
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 2005 2014
Entrez Id: 7974
Gene Symbol: HRX
HRX
Hyperreflexia 0.695 0.192
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 1995 2007
Entrez Id: 116833
Gene Symbol: ANIB1
ANIB1
aneurysm, intracranial berry 1 0.608 0.500
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 1999 2008
Entrez Id: 3210
Gene Symbol: HOXB@
HOXB@
homeobox B cluster 0.631 0.538
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2015 2016
Entrez Id: 3440
Gene Symbol: IFNA2
IFNA2
interferon alpha 2 0.442 0.885
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 1996 2015
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2007 2008
Entrez Id: 60500
Gene Symbol: BRCA3
BRCA3
breast cancer 3 0.705 0.269
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2005 2008
Entrez Id: 100133941
Gene Symbol: CD24
CD24
CD24 molecule 0.472 0.769
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1986 1986
Entrez Id: 100505887
Gene Symbol: LINC01672
LINC01672
long intergenic non-protein coding RNA 1672 0.462 0.846
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 100528024
Gene Symbol: DEL11P13
DEL11P13
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 0.716 0.538
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1988 1988
Entrez Id: 100689229
Gene Symbol: H3P12
H3P12
H3 histone pseudogene 12 0.603 0.615
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019