Source: ALL

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
CUI: C1861357
Disease: 1-5 finger complete cutaneous syndactyly
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: 1584
Gene Symbol: CYP11B1
CYP11B1 		cytochrome P450 family 11 subfamily B member 1 0.588 0.552 7.6E-07
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.400 1.000 23 6 1991 2016
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2 		cytochrome P450 family 11 subfamily B member 2 0.572 0.483 9.5E-19
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.020 1.000 2 0 2005 2016
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.607 0.586 2.2E-04
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 1.000 1 1 2016 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.382 0.862 9.4E-05
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 1.000 1 0 1980 1980
Entrez Id: 404663
Gene Symbol: LINC01194
LINC01194 		long intergenic non-protein coding RNA 1194 0.500 0.690
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 1.000 1 0 1994 1994
Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1 		hydroxysteroid 11-beta dehydrogenase 1 0.577 0.655 0.41
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		disease 0.200 6 0 1998 2004
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2 		high mobility group AT-hook 2 0.474 0.655 0.88
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		disease 0.300 0 0
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3 		LEM domain containing 3 0.639 0.379 1.00
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		disease 0.300 0 0
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.561 0.517 0.95
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		disease 0.300 0 0
Entrez Id: 1445
Gene Symbol: CSK
CSK 		C-terminal Src kinase 0.633 0.621 1.00
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		disease 0.010 1.000 1 0 2012 2012
Entrez Id: 5371
Gene Symbol: PML
PML 		promyelocytic leukemia 0.519 0.759 0.22
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		disease 0.010 1.000 1 0 2012 2012