Source: INFERRED

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: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 0 0
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2
potassium voltage-gated channel subfamily A regulatory beta subunit 2 0.593 0.692 0.80
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 0 0
Entrez Id: 100532732
Gene Symbol: MSH5-SAPCD1
MSH5-SAPCD1
MSH5-SAPCD1 readthrough (NMD candidate) 0.760 0.423
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 101929163
Gene Symbol: TSBP1-AS1
TSBP1-AS1
TSBP1 and BTNL2 antisense RNA 1 0.638 0.692
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 259197
Gene Symbol: NCR3
NCR3
natural cytotoxicity triggering receptor 3 0.638 0.769 3.7E-04
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 401247
Gene Symbol: LINC00243
LINC00243
long intergenic non-protein coding RNA 243 0.729 0.423
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 4439
Gene Symbol: MSH5
MSH5
mutS homolog 5 0.641 0.692 3.2E-11
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 9656
Gene Symbol: MDC1
MDC1
mediator of DNA damage checkpoint 1 0.628 0.692 2.3E-08
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3 0.641 0.346 8.5E-07
17-Hydroxysteroid Dehydrogenase Deficiency
disease 0.790 strong 1.000 9 4 1994 2018
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
clusterin associated protein 1 0.805 0.231 4.2E-04
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 10087
Gene Symbol: CERT1
CERT1
ceramide transporter 1 0.674 0.500 0.67
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 10682
Gene Symbol: EBP
EBP
EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
thioredoxin like 4A 0.711 0.385 7.2E-05
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 11043
Gene Symbol: MID2
MID2
midline 2 0.695 0.500 0.18
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
interleukin 1 receptor accessory protein like 1 0.617 0.692 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
mannosidase alpha class 1B member 1 0.606 0.577 1.2E-08
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
RAB39B, member RAS oncogene family 0.619 0.615 0.83
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 0