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: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14 		peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1 		paired related homeobox 1 0.543 0.769 0.24
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 54716
Gene Symbol: SLC6A20
SLC6A20 		solute carrier family 6 member 20 0.805 0.269 2.7E-17
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 5624
Gene Symbol: PROC
PROC 		protein C, inactivator of coagulation factors Va and VIIIa 0.504 0.808 1.9E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7 		mitogen-activated protein kinase kinase kinase 7 0.477 0.808 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		TSPY like 1 0.705 0.500 5.6E-07
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 491
Gene Symbol: ATP2B2
ATP2B2 		ATPase plasma membrane Ca2+ transporting 2 0.659 0.731 1.00
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 153201
Gene Symbol: SLC36A2
SLC36A2 		solute carrier family 36 member 2 0.861 0.154 6.2E-10
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		cytochrome P450 family 24 subfamily A member 1 0.518 0.692 3.2E-23
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19 		solute carrier family 6 member 19 0.695 0.577 1.8E-24
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		tubulin beta 2B class IIb 0.610 0.385 0.99
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 387733
Gene Symbol: IFITM5
IFITM5 		interferon induced transmembrane protein 5 0.736 0.231 2.2E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3 		laminin subunit alpha 3 0.576 0.731 8.8E-46
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA 		alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0