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: 100216344
Gene Symbol: DYT17
DYT17 		dystonia 17 1.000 0.038
CUI: C2676281
Disease: DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 100359402
Gene Symbol: SPG41
SPG41 		spastic paraplegia 41 (autosomal dominant) 1.000
CUI: C3888208
Disease: SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 107305681
Gene Symbol: DHS6S1
DHS6S1 		Macular dystrophy, North Carolina type 1.000 0.077
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		disease 0.500 None 1.000 1 0 2016 2016
Entrez Id: 26130
Gene Symbol: GAPVD1
GAPVD1 		GTPase activating protein and VPS9 domains 1 1.000 0.077 1.00
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 283008
Gene Symbol: NUTM2E
NUTM2E 		NUT family member 2E 1.000 0.115 1.5E-05
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 64145
Gene Symbol: RBSN
RBSN 		rabenosyn, RAB effector 1.000 2.3E-02
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 100049159
Gene Symbol: SPG37
SPG37 		spastic paraplegia 37 (autosomal dominant) 1.000 0.077
CUI: C2936880
Disease: SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder) 		disease 0.300 None 0 0
Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1 		double homeobox 4 like 1 (pseudogene) 1.000 0.115
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease 0.350 None 1.000 0 0 2007 2018
Entrez Id: 387583
Gene Symbol: SPG25
SPG25 		spastic paraplegia 25 (autosomal recessive, with disc herniation) 1.000 0.154
CUI: C2936860
Disease: Spastic paraplegia 25, autosomal recessive
Spastic paraplegia 25, autosomal recessive 		disease 0.300 None 0 0
Entrez Id: 407973
Gene Symbol: SCA20
SCA20 		spinocerebellar ataxia 20 1.000 0.077
CUI: C1837541
Disease: SPINOCEREBELLAR ATAXIA 20
SPINOCEREBELLAR ATAXIA 20 		disease 0.300 None 0 0
Entrez Id: 724107
Gene Symbol: SPG32
SPG32 		spastic paraplegia 32 (autosomal recessive) 1.000 0.192
CUI: C1970009
Disease: SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE 		disease 0.300 None 0 0
Entrez Id: 724110
Gene Symbol: SPG34
SPG34 		spastic paraplegia 34 (autosomal dominant) 1.000 0.077
CUI: C2677897
Disease: SPASTIC PARAPLEGIA 34, X-LINKED (disorder)
SPASTIC PARAPLEGIA 34, X-LINKED (disorder) 		disease 0.300 None 0 0
Entrez Id: 100359393
Gene Symbol: SCA30
SCA30 		spinocerebellar ataxia 30 0.931 0.077
CUI: C2936793
Disease: Spinocerebellar ataxia 30
Spinocerebellar ataxia 30 		disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 100885773
Gene Symbol: DYT21
DYT21 		dystonia 21, torsion (autosomal dominant) 0.931 0.077
CUI: C3281236
Disease: DYSTONIA 21
DYSTONIA 21 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 103753527
Gene Symbol: SCA37
SCA37 		spinocerebellar ataxia 37 0.931 0.115
CUI: C3889636
Disease: SPINOCEREBELLAR ATAXIA 37
SPINOCEREBELLAR ATAXIA 37 		disease 0.310 None 1.000 1 0 2013 2018
Entrez Id: 1260
Gene Symbol: CNGA2
CNGA2 		cyclic nucleotide gated channel subunit alpha 2 0.931 0.154 9.8E-04
CUI: C0393778
Disease: Congenital anosmia
Congenital anosmia 		disease 0.320 None 1.000 1 0 2015 2017
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14 		schlafen family member 14 0.931 3.5E-09
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		disease 0.700 None 1.000 1 0 2015 2016
Entrez Id: 388531
Gene Symbol: RGS9BP
RGS9BP 		regulator of G protein signaling 9 binding protein 0.931 2.3E-03
CUI: C1842073
Disease: Prolonged Electroretinal Response Suppression
Prolonged Electroretinal Response Suppression 		phenotype 0.700 limited 1.000 1 0 2004 2004
Entrez Id: 619379
Gene Symbol: SPG29
SPG29 		spastic paraplegia 29 (autosomal dominant) 0.931 0.077
CUI: C1857855
Disease: SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT 		disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 7783
Gene Symbol: ZP2
ZP2 		zona pellucida glycoprotein 2 0.931 6.2E-08
CUI: C4014291
Disease: OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 1 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 7783
Gene Symbol: ZP2
ZP2 		zona pellucida glycoprotein 2 0.931 6.2E-08
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 79703
Gene Symbol: C11orf80
C11orf80 		chromosome 11 open reading frame 80 0.931 0.115 2.0E-09
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 80217
Gene Symbol: CFAP43
CFAP43 		cilia and flagella associated protein 43 0.931 0.038 1.3E-22
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 140907
Gene Symbol: SPG19
SPG19 		spastic paraplegia 19 (autosomal dominant) 0.931 0.077
CUI: C1846685
Disease: SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder) 		disease 0.300 None 0 0
Entrez Id: 338090
Gene Symbol: SPG24
SPG24 		spastic paraplegia 24 (autosomal recessive) 0.931 0.077
CUI: C1843569
Disease: SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 None 0 0