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: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.624 0.103 9.4E-09
1-5 finger complete cutaneous syndactyly
phenotype 0.100 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog 0.434 0.724 0.99
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
disease 0.100 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.624 0.103 9.4E-09
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
disease 0.100 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.485 0.724 1.00
CUI: C4021235
Disease: 1-5 toe syndactyly
1-5 toe syndactyly
disease 0.100 0 0
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.486 0.759 1.7E-08
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 2879
Gene Symbol: GPX4
GPX4
glutathione peroxidase 4 0.579 0.655 2.5E-04
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR
lamin B receptor 0.516 0.690 0.13
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.527 0.793 0.82
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB
small nuclear ribonucleoprotein polypeptides B and B1 0.648 0.552 0.73
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box 9 0.459 0.724 1.00
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.596 0.586 5.2E-27
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.630 0.517 2.1E-02
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
phenotype 0.100 0 0
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.486 0.655 2.1E-04
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
disease 0.460 1.000 2 0 1989 2015
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3 0.667 0.276 1.1E-06
17-Hydroxysteroid Dehydrogenase Deficiency
disease 0.750 1.000 12 0 1977 2016
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
NAD kinase 2, mitochondrial 0.713 0.207 0.23
2,4-Dienoyl-CoA Reductase Deficiency
disease 0.600 1 0 2015 2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.431 0.793 0.14
CUI: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly
phenotype 0.100 0 0
Entrez Id: 150468
Gene Symbol: CKAP2L
CKAP2L
cytoskeleton associated protein 2 like 0.672 0.379 6.2E-04
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
disease 0.100 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
dehydrogenase E1 and transketolase domain containing 1 0.762 0.241 1.0E-30
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
disease 0.700 3 0 2013 2017
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10 0.645 0.483 0.90
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
disease 0.600 13 0 1999 2017
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
acyl-CoA dehydrogenase short/branched chain 0.752 0.241 3.6E-11
2-Methylbutyryl-CoA Dehydrogenase Deficiency
disease 0.700 3 0 2000 2007
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.607 0.586 2.2E-04
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.200 0.947 56 0 1969 2017
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.594 0.448 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
disease 0.800 1.000 3 0 2003 2018
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.541 0.621 5.3E-02
2nd-5th toe middle phalangeal hypoplasia
phenotype 0.100 0 0