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: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 None 0 1
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: 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: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 2
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
PHD finger protein 6 0.581 0.692 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
disease 0.700 None 1.000 3 6 2012 2016
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10 0.656 0.538 0.94
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
phenotype 0.750 definitive 1.000 0 8 1999 2019
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
2-Methylbutyryl-CoA Dehydrogenase Deficiency
disease 0.700 definitive 1.000 3 3 2000 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
disease 1.000 definitive 1.000 0 9 2001 2020
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
3 beta-Hydroxysteroid dehydrogenase deficiency
disease 0.780 None 1.000 1 9 1993 2015