Source: CURATED

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: 197135
Gene Symbol: PATL2
PATL2 		PAT1 homolog 2 1.000 1.2E-11
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		disease 0.400 None 1.000 2 9 2017 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 2 4 2015 2016
Entrez Id: 347688
Gene Symbol: TUBB8
TUBB8 		tubulin beta 8 class VIII 1.000 1.8E-02
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2 		disease 0.600 None 1.000 2 14 2016 2016
Entrez Id: 100288805
Gene Symbol: HYDIN2
HYDIN2 		HYDIN axonemal central pair apparatus protein 2 (pseudogene)
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 100312787
Gene Symbol: VN1R31P
VN1R31P 		vomeronasal 1 receptor 31 pseudogene
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group 0.300 None 1.000 1 0 2017 2017
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: 10618
Gene Symbol: TGOLN2
TGOLN2 		trans-golgi network protein 2 2.8E-03
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 148103
Gene Symbol: ZNF599
ZNF599 		zinc finger protein 599 1.000 2.1E-07
CUI: C4311048
Disease: CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL
CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL 		disease 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 163882
Gene Symbol: CNST
CNST 		consortin, connexin sorting protein 1.2E-06
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 171511
Gene Symbol: ADIPQTL2
ADIPQTL2 		Circulating adiponectin QTL on chromosome 5
CUI: C1847530
Disease: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 		phenotype 0.300 None 1.000 1 0 2001 2001
Entrez Id: 221357
Gene Symbol: GSTA5
GSTA5 		glutathione S-transferase alpha 5 1.8E-11
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.300 None 1.000 1 0 2012 2012
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 1 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: 26149
Gene Symbol: ZNF658
ZNF658 		zinc finger protein 658 9.0E-14
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 26799
Gene Symbol: SNORD50A
SNORD50A 		small nucleolar RNA, C/D box 50A
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.310 None 1.000 1 0 2016 2016
Entrez Id: 26799
Gene Symbol: SNORD50A
SNORD50A 		small nucleolar RNA, C/D box 50A
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 26799
Gene Symbol: SNORD50A
SNORD50A 		small nucleolar RNA, C/D box 50A
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 26799
Gene Symbol: SNORD50A
SNORD50A 		small nucleolar RNA, C/D box 50A
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 282775
Gene Symbol: OR5J2
OR5J2 		olfactory receptor family 5 subfamily J member 2 2.4E-03
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14 		schlafen family member 14 0.931 3.5E-09
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 387712
Gene Symbol: ENO4
ENO4 		enolase 4 8.0E-07
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 387712
Gene Symbol: ENO4
ENO4 		enolase 4 8.0E-07
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male 		phenotype 0.300 None 1.000 1 0 2013 2013
Entrez Id: 387712
Gene Symbol: ENO4
ENO4 		enolase 4 8.0E-07
CUI: C0917731
Disease: Male sterility
Male sterility 		phenotype 0.300 None 1.000 1 0 2013 2013
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 1 2004 2004
Entrez Id: 401296
Gene Symbol: LNCRI
LNCRI 		lncRNA radiation induced regulator of PLK1 and RAD51
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype 0.300 None 1.000 1 0 2018 2018