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: 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: 22917
Gene Symbol: ZP1
ZP1 		zona pellucida glycoprotein 1 0.890 1.9E-21
CUI: C4014291
Disease: OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 1 		disease 0.600 None 1.000 1 0 2014 2014
Entrez Id: 22917
Gene Symbol: ZP1
ZP1 		zona pellucida glycoprotein 1 0.890 1.9E-21
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3 		disease 0.300 None 1.000 1 0 2014 2014
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: 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: 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: 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: 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: 346288
Gene Symbol: SEPTIN14
SEPTIN14 		septin 14 0.805 0.077 6.9E-06
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		disease 0.300 None 1.000 2 0 2013 2013
Entrez Id: 346288
Gene Symbol: SEPTIN14
SEPTIN14 		septin 14 0.805 0.077 6.9E-06
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		disease 0.500 None 1.000 2 0 2013 2013
Entrez Id: 728118
Gene Symbol: NUTM2A
NUTM2A 		NUT family member 2A 0.805 0.077 5.4E-07
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		disease 0.360 None 1.000 2 0 2012 2017
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: 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: 152816
Gene Symbol: ODAPH
ODAPH 		odontogenesis associated phosphoprotein 0.839 0.077 5.0E-02
CUI: C0399372
Disease: Amelogenesis Imperfecta hypomaturation type
Amelogenesis Imperfecta hypomaturation type 		disease 0.300 None 1.000 1 0 2012 2012
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: 51134
Gene Symbol: CEP83
CEP83 		centrosomal protein 83 0.839 0.077 4.3E-14
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		disease 0.310 None 1.000 1 0 2014 2014
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: 84957
Gene Symbol: RELT
RELT 		RELT TNF receptor 0.821 0.077 1.1E-06
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease 0.340 None 1.000 1 0 2013 2016
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: 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