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: 11253
Gene Symbol: MAN1B1
MAN1B1 		mannosidase alpha class 1B member 1 0.606 0.577 1.2E-08
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		transcription factor 4 0.464 0.846 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 1
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 83737
Gene Symbol: ITCH
ITCH 		itchy E3 ubiquitin protein ligase 0.556 0.769 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 8558
Gene Symbol: CDK10
CDK10 		cyclin dependent kinase 10 0.650 0.577 1.2E-16
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 9841
Gene Symbol: ZBTB24
ZBTB24 		zinc finger and BTB domain containing 24 0.659 0.654 2.1E-04
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		ring finger protein 13 0.722 0.346 4.0E-04
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 1349
Gene Symbol: COX7B
COX7B 		cytochrome c oxidase subunit 7B 0.595 0.654 0.67
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 1896
Gene Symbol: EDA
EDA 		ectodysplasin A 0.553 0.808 0.97
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0