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: 1146
Gene Symbol: CHRNG
CHRNG 		cholinergic receptor nicotinic gamma subunit 0.573 0.692 3.3E-19
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14 		peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 64065
Gene Symbol: PERP
PERP 		p53 apoptosis effector related to PMP22 0.663 0.577 7.9E-02
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 1
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		pantothenate kinase 2 0.559 0.808 7.4E-07
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3 		peroxisomal biogenesis factor 3 0.595 0.731 1.6E-02
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		collagen type V alpha 2 chain 0.568 0.731 1.00
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21 		DnaJ heat shock protein family (Hsp40) member C21 0.606 0.731 2.1E-07
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 1
Entrez Id: 162514
Gene Symbol: TRPV3
TRPV3 		transient receptor potential cation channel subfamily V member 3 0.610 0.577 4.6E-20
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3 		tectonic family member 3 0.566 0.615 4.2E-12
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 9409
Gene Symbol: PEX16
PEX16 		peroxisomal biogenesis factor 16 0.597 0.615 8.3E-05
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0