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: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 9382
Gene Symbol: COG1
COG1 		component of oligomeric golgi complex 1 0.628 0.692 4.9E-08
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		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: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		oligophrenin 1 0.633 0.538 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 1
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 23241
Gene Symbol: PACS2
PACS2 		phosphofurin acidic cluster sorting protein 2 0.700 0.423 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0