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: 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: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 56521
Gene Symbol: DNAJC12
DNAJC12 		DnaJ heat shock protein family (Hsp40) member C12 0.705 0.423 2.1E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 5648
Gene Symbol: MASP1
MASP1 		mannan binding lectin serine peptidase 1 0.565 0.885 1.2E-11
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 5611
Gene Symbol: DNAJC3
DNAJC3 		DnaJ heat shock protein family (Hsp40) member C3 0.670 0.577 1.7E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 51663
Gene Symbol: ZFR
ZFR 		zinc finger RNA binding protein 0.729 0.346 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: 51185
Gene Symbol: CRBN
CRBN 		cereblon 0.551 0.654 2.9E-04
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1 		solute carrier family 45 member 1 0.674 0.269 2.5E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1 		neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 4841
Gene Symbol: NONO
NONO 		non-POU domain containing octamer binding 0.554 0.731 0.99
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 5279
Gene Symbol: PIGC
PIGC 		phosphatidylinositol glycan anchor biosynthesis class C 0.691 0.346 5.5E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4 		POU class 3 homeobox 4 0.633 0.654 0.57
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 54862
Gene Symbol: CC2D1A
CC2D1A 		coiled-coil and C2 domain containing 1A 0.628 0.462 8.5E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0