Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		1.000 ChromosomalRearrangement ORPHANET

Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 8910
Gene Symbol: SGCE
SGCE
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5897
Gene Symbol: RAG2
RAG2
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		0.990 GermlineCausalMutation ORPHANET

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.980 GermlineCausalMutation ORPHANET

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		0.970 GermlineCausalMutation ORPHANET

Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.960 GermlineCausalMutation ORPHANET

Entrez Id: 2259
Gene Symbol: FGF14
FGF14
CUI: C1836383
Disease: SPINOCEREBELLAR ATAXIA 27
SPINOCEREBELLAR ATAXIA 27 		0.950 GermlineCausalMutation ORPHANET

Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		0.940 GermlineCausalMutation ORPHANET

Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		0.940 GermlineCausalMutation ORPHANET

Entrez Id: 83706
Gene Symbol: FERMT3
FERMT3
CUI: C2748536
Disease: Leukocyte Adhesion Deficiency, Type III
Leukocyte Adhesion Deficiency, Type III 		0.930 GermlineCausalMutation ORPHANET

Entrez Id: 7018
Gene Symbol: TF
TF
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		0.910 GermlineCausalMutation ORPHANET

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		0.910 GeneticVariation ORPHANET

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		0.900 GermlineCausalMutation ORPHANET

Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.900 GermlineCausalMutation ORPHANET

Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.900 GermlineCausalMutation ORPHANET

Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		0.900 GermlineCausalMutation ORPHANET