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: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 3955
Gene Symbol: LFNG
LFNG 		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 0.659 0.500 9.8E-02
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		phosphofurin acidic cluster sorting protein 1 0.603 0.615 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 1
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 1
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 84942
Gene Symbol: WDR73
WDR73 		WD repeat domain 73 0.610 0.500 2.8E-09
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3 		mitogen-activated protein kinase 8 interacting protein 3 0.682 0.462 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 1
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		collagen type XII alpha 1 chain 0.615 0.692 0.97
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		collagen type VI alpha 3 chain 0.563 0.769 1.8E-20
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 10525
Gene Symbol: HYOU1
HYOU1 		hypoxia up-regulated 1 0.633 0.731 0.86
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype 0.100 None 0 0