Source: ORPHANET

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: 7274
Gene Symbol: TTPA
TTPA 		alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		disease 1.000 None 1.000 0 0 1985 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease 1.000 None 0.974 0 0 1976 2020
Entrez Id: 7454
Gene Symbol: WAS
WAS 		WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease 1.000 definitive 0.987 0 0 1994 2020
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		disease 1.000 None 1.000 0 0 2004 2020
Entrez Id: 846
Gene Symbol: CASR
CASR 		calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease 1.000 None 0.993 0 0 1976 2020
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		disease 1.000 None 0.976 0 0 1997 2019
Entrez Id: 8626
Gene Symbol: TP63
TP63 		tumor protein p63 0.362 0.769 1.00
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		disease 1.000 None 1.000 0 0 2001 2019
Entrez Id: 8910
Gene Symbol: SGCE
SGCE 		sarcoglycan epsilon 0.626 0.538 2.4E-02
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		disease 1.000 None 0.956 0 0 2000 2019
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		disease 0.990 None 1.000 0 0 2011 2019
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		disease 0.980 None 1.000 0 0 1971 2020
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		disease 0.970 None 1.000 0 0 1989 2017
Entrez Id: 27130
Gene Symbol: INVS
INVS 		inversin 0.619 0.538 5.6E-18
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		disease 0.960 None 1.000 0 0 1993 2020
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		fibroblast growth factor 14 0.619 0.692 0.91
CUI: C1836383
Disease: SPINOCEREBELLAR ATAXIA 27
SPINOCEREBELLAR ATAXIA 27 		disease 0.950 None 1.000 0 0 2002 2019
Entrez Id: 5213
Gene Symbol: PFKM
PFKM 		phosphofructokinase, muscle 0.666 0.500 3.8E-18
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		disease 0.940 None 1.000 0 0 1990 2016
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		disease 0.940 None 1.000 0 0 1981 2017
Entrez Id: 83706
Gene Symbol: FERMT3
FERMT3 		fermitin family member 3 0.638 0.538 2.6E-04
CUI: C2748536
Disease: Leukocyte Adhesion Deficiency, Type III
Leukocyte Adhesion Deficiency, Type III 		disease 0.930 definitive 1.000 0 0 2006 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		disease 0.910 None 1.000 0 0 1992 2014
Entrez Id: 7018
Gene Symbol: TF
TF 		transferrin 0.527 0.846 4.1E-08
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		disease 0.910 strong 1.000 0 0 1987 2007
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		disease 0.900 None 0.995 0 0 2003 2019
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		disease 0.900 None 1.000 0 0 1983 2020
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		interferon regulatory factor 6 0.486 0.769 1.00
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		disease 0.900 strong 0.966 0 0 1999 2019
Entrez Id: 4281
Gene Symbol: MID1
MID1 		midline 1 0.621 0.654 0.98
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		disease 0.900 definitive 1.000 0 0 1997 2017
Entrez Id: 4644
Gene Symbol: MYO5A
MYO5A 		myosin VA 0.628 0.615 0.94
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		disease 0.900 None 1.000 0 0 1997 2011
Entrez Id: 5255
Gene Symbol: PHKA1
PHKA1 		phosphorylase kinase regulatory subunit alpha 1 0.839 0.115 2.1E-07
CUI: C1845151
Disease: Glycogen Storage Disease, Type IXD
Glycogen Storage Disease, Type IXD 		disease 0.900 strong 1.000 0 0 1970 2016
Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1 		solute carrier family 35 member C1 0.705 0.577 2.4E-02
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		disease 0.900 strong 1.000 0 0 2001 2016