Source: HPO

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 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C1861357
Disease: 1-5 finger complete cutaneous syndactyly
1-5 finger complete cutaneous syndactyly 		phenotype 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		disease 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH 		sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		disease 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C4021235
Disease: 1-5 toe syndactyly
1-5 toe syndactyly 		disease 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		phenotype 0.100 None 0 0
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		phenotype 0.100 None 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 2563
Gene Symbol: GABRD
GABRD 		gamma-aminobutyric acid type A receptor subunit delta 0.558 0.692 0.99
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 2879
Gene Symbol: GPX4
GPX4 		glutathione peroxidase 4 0.516 0.808 4.8E-05
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
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 0
Entrez Id: 545
Gene Symbol: ATR
ATR 		ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16 		PR/SET domain 16 0.522 0.808 1.00
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB 		small nuclear ribonucleoprotein polypeptides B and B1 0.595 0.731 0.71
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
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