Source: CLINVAR

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: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 1.000 9 1 2005 2009
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		cathepsin A 0.619 0.731 5.9E-09
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 1.000 3 2 1996 2014
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 9
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 2
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 84572
Gene Symbol: GNPTG
GNPTG 		N-acetylglucosamine-1-phosphate transferase subunit gamma 0.705 0.423 4.6E-09
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 90459
Gene Symbol: ERI1
ERI1 		exoribonuclease 1 0.890 0.192 1.2E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1 		treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		sorting nexin 14 0.659 0.423 6.1E-17
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 2
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS 		family with sequence similarity 120A opposite strand 0.861 0.154 2.2E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 2
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1