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: 2271
Gene Symbol: FH
FH
fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1977 1977
Entrez Id: 3572
Gene Symbol: IL6ST
IL6ST
interleukin 6 signal transducer 0.475 0.808 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1979 1979
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC
leucine rich pentatricopeptide repeat containing 0.493 0.769 2.3E-10
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1979 1979
Entrez Id: 4827
Gene Symbol: NM
NM
neutrophil migration 0.473 0.808
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1979 1979
Entrez Id: 3930
Gene Symbol: LBR
LBR
lamin B receptor 0.473 0.808 0.18
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 1979 1980
Entrez Id: 7218
Gene Symbol: TRP-AGG2-6
TRP-AGG2-6
tRNA-Pro (anticodon AGG) 2-6 0.666 0.462
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1980 1980
Entrez Id: 1638
Gene Symbol: DCT
DCT
dopachrome tautomerase 0.619 0.654 7.4E-14
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1980 1980
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
RAN binding protein 2 0.578 0.615 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1980 1980
Entrez Id: 2936
Gene Symbol: GSR
GSR
glutathione-disulfide reductase 0.494 0.846 1.3E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1981 1981
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
lactate dehydrogenase B 0.604 0.615 5.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1981 1981
Entrez Id: 5973
Gene Symbol: RENBP
RENBP
renin binding protein 0.528 0.769 0.45
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1982 1982
Entrez Id: 57486
Gene Symbol: NLN
NLN
neurolysin 0.597 0.731 3.9E-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 1975 1983
Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
opioid receptor mu 1 0.457 0.808 7.9E-11
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 1975 1983
Entrez Id: 94233
Gene Symbol: OPN4
OPN4
opsin 4 0.579 0.769 9.0E-13
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 1975 1983
Entrez Id: 80818
Gene Symbol: ZNF436
ZNF436
zinc finger protein 436 0.670 0.500 5.1E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 56242
Gene Symbol: ZNF253
ZNF253
zinc finger protein 253 0.736 0.346 3.2E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 284390
Gene Symbol: ZNF763
ZNF763
zinc finger protein 763 0.691 0.500 1.8E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 148266
Gene Symbol: ZNF569
ZNF569
zinc finger protein 569 0.666 0.538 6.6E-08
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 387522
Gene Symbol: TMEM189-UBE2V1
TMEM189-UBE2V1
TMEM189-UBE2V1 readthrough 0.659 0.577 8.4E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 387521
Gene Symbol: TMEM189
TMEM189
transmembrane protein 189 0.659 0.577 8.4E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 23361
Gene Symbol: ZNF629
ZNF629
zinc finger protein 629 0.691 0.500 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 7335
Gene Symbol: UBE2V1
UBE2V1
ubiquitin conjugating enzyme E2 V1 0.641 0.654 1.2E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 3502
Gene Symbol: IGHG3
IGHG3
immunoglobulin heavy constant gamma 3 (G3m marker) 0.513 0.769
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1984 1984