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: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10 		FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B 		RAP1B, member of RAS oncogene family 0.565 0.769 0.91
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A 		RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 55603
Gene Symbol: TENT5A
TENT5A 		terminal nucleotidyltransferase 5A 0.695 0.577 0.92
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5479
Gene Symbol: PPIB
PPIB 		peptidylprolyl isomerase B 0.641 0.577 4.7E-05
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0542514
Disease: Blue sclera
Blue sclera 		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: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		prolyl 4-hydroxylase subunit beta 0.488 0.808 1.00
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		xylosyltransferase 1 0.581 0.731 0.92
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 64359
Gene Symbol: NXN
NXN 		nucleoredoxin 0.584 0.577 1.00
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13 		solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1 		cAMP responsive element binding protein 3 like 1 0.601 0.615 0.98
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1 		serpin family H member 1 0.545 0.769 2.8E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG 		inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 0.493 0.769 8.5E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469 		zinc finger protein 469 0.584 0.769 0.72
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0