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: 6611
Gene Symbol: SMS
SMS 		spermine synthase 0.491 0.846 0.97
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3 		retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 57187
Gene Symbol: THOC2
THOC2 		THO complex 2 0.650 0.538 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 56159
Gene Symbol: TEX11
TEX11 		testis expressed 11 0.686 0.500 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		arginine vasopressin receptor 2 0.568 0.769 0.56
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE 		trimethyllysine hydroxylase, epsilon 0.821 0.231 8.0E-05
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW 		opsin 1, long wave sensitive 0.497 0.808 0.98
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 60506
Gene Symbol: NYX
NYX 		nyctalopin 0.678 0.192 0.13
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 6094
Gene Symbol: ROM1
ROM1 		retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B 		UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN 		biglycan 0.484 0.808 0.45
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 63035
Gene Symbol: BCORL1
BCORL1 		BCL6 corepressor like 1 0.682 0.500 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 6247
Gene Symbol: RS1
RS1 		retinoschisin 1 0.686 0.500 0.96
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		ribosomal protein L10 0.568 0.731 0.91
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4 		POU class 3 homeobox 4 0.633 0.654 0.57
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 5422
Gene Symbol: POLA1
POLA1 		DNA polymerase alpha 1, catalytic subunit 0.653 0.731 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 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: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		p21 (RAC1) activated kinase 3 0.569 0.731 0.99
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0