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: 338435
Gene Symbol: SCA25
SCA25 		spinocerebellar ataxia 25 0.931 0.077
CUI: C1837518
Disease: Spinocerebellar ataxia 25
Spinocerebellar ataxia 25 		disease 0.310 None 1.000 0 0 2005 2005
Entrez Id: 4977
Gene Symbol: OPA2
OPA2 		optic atrophy 2 (obscure) 0.931 0.115
CUI: C1839576
Disease: OPTIC ATROPHY 2 (disorder)
OPTIC ATROPHY 2 (disorder) 		disease 0.310 None 1.000 0 0 2006 2006
Entrez Id: 5260
Gene Symbol: PHKG1
PHKG1 		phosphorylase kinase catalytic subunit gamma 1 0.931 0.154 3.6E-15
CUI: C1845151
Disease: Glycogen Storage Disease, Type IXD
Glycogen Storage Disease, Type IXD 		disease 0.300 None 0 0
Entrez Id: 119559
Gene Symbol: SFXN4
SFXN4 		sideroflexin 4 0.890 0.192 1.2E-07
CUI: C3810001
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 		disease 0.700 strong 1.000 1 0 2013 2013
Entrez Id: 146845
Gene Symbol: CFAP52
CFAP52 		cilia and flagella associated protein 52 0.890 0.154 8.1E-18
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.300 None 1.000 1 0 2015 2015
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: 28958
Gene Symbol: COA3
COA3 		cytochrome c oxidase assembly factor 3 0.890 0.231 6.5E-02
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.410 None 1.000 1 0 2015 2015
Entrez Id: 29958
Gene Symbol: DMGDH
DMGDH 		dimethylglycine dehydrogenase 0.890 0.154 2.1E-24
CUI: C1853892
Disease: Dimethylglycine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency 		disease 0.700 limited 1.000 1 0 1997 2016
Entrez Id: 100049707
Gene Symbol: SPG38
SPG38 		spastic paraplegia 38 (autosomal dominant, Silver syndrome) 0.890 0.115
CUI: C2676732
Disease: SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder) 		disease 0.300 None 0 0
Entrez Id: 317714
Gene Symbol: DYT15
DYT15 		dystonia 15, myoclonic 0.890 0.154
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		disease 0.320 None 0.500 0 0 2007 2017
Entrez Id: 414886
Gene Symbol: SPG27
SPG27 		spastic paraplegia 27 (autosomal recessive) 0.890 0.231
CUI: C1836899
Disease: SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 None 0 0
Entrez Id: 57309
Gene Symbol: SPG14
SPG14 		spastic paraplegia 14 (autosomal recessive) 0.890 0.192
CUI: C1854568
Disease: SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 None 0 0
Entrez Id: 57135
Gene Symbol: DAZ4
DAZ4 		deleted in azoospermia 4 0.861 0.154
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion 		phenotype 0.300 None 1.000 2 0 2004 2010
Entrez Id: 57135
Gene Symbol: DAZ4
DAZ4 		deleted in azoospermia 4 0.861 0.154
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		phenotype 0.300 None 1.000 2 0 2004 2010
Entrez Id: 9950
Gene Symbol: GOLGA5
GOLGA5 		golgin A5 0.861 0.115 6.0E-05
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease 0.300 None 1.000 2 0 1998 2006
Entrez Id: 150365
Gene Symbol: MEI1
MEI1 		meiotic double-stranded break formation protein 1 0.861 0.115 4.7E-12
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 153201
Gene Symbol: SLC36A2
SLC36A2 		solute carrier family 36 member 2 0.861 0.154 6.2E-10
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria 		disease 0.610 limited 1.000 1 0 2008 2008
Entrez Id: 285600
Gene Symbol: KIAA0825
KIAA0825 		KIAA0825 0.861 0.192 5.3E-09
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		disease 0.400 None 1.000 1 0 2019 2019
Entrez Id: 55229
Gene Symbol: PANK4
PANK4 		pantothenate kinase 4 (inactive) 0.861 0.115 0.98
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 791228
Gene Symbol: SPG36
SPG36 		spastic paraplegia 36 (autosomal dominant) 0.861 0.231
CUI: C2936879
Disease: SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT 		disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 9054
Gene Symbol: NFS1
NFS1 		NFS1 cysteine desulfurase 0.861 0.308 5.5E-02
CUI: C4750855
Disease: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 9064
Gene Symbol: MAP3K6
MAP3K6 		mitogen-activated protein kinase kinase kinase 6 0.861 0.192 1.1E-16
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease 0.310 None 1.000 1 0 2014 2014
Entrez Id: 59335
Gene Symbol: PRDM12
PRDM12 		PR/SET domain 12 0.839 0.231 0.93
CUI: C4225308
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII 		disease 0.700 None 1.000 3 0 2015 2017
Entrez Id: 729262
Gene Symbol: NUTM2B
NUTM2B 		NUT family member 2B 0.839 0.115 2.0E-02
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		disease 0.320 None 1.000 2 0 2012 2014