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: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 8309
Gene Symbol: ACOX2
ACOX2 		acyl-CoA oxidase 2 0.769 0.423 2.2E-10
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA 		alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		ALX homeobox 4 0.560 0.692 0.36
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		aminoacyl tRNA synthetase complex interacting multifunctional protein 1 0.566 0.769 3.0E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 178
Gene Symbol: AGL
AGL 		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 288
Gene Symbol: ANK3
ANK3 		ankyrin 3 0.578 0.654 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 55129
Gene Symbol: ANO10
ANO10 		anoctamin 10 0.663 0.500 1.0E-14
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 51319
Gene Symbol: RSRC1
RSRC1 		arginine and serine rich coiled-coil 1 0.650 0.462 7.5E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		ARVCF delta catenin family member 0.540 0.769 5.0E-11
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0