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: 401296
Gene Symbol: LNCRI
LNCRI
lncRNA radiation induced regulator of PLK1 and RAD51
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced
phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 440073
Gene Symbol: IQSEC3
IQSEC3
IQ motif and Sec7 domain ArfGEF 3 3.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 51449
Gene Symbol: PCYOX1
PCYOX1
prenylcysteine oxidase 1 2.2E-15
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype 0.300 None 1.000 1 0 2008 2008
Entrez Id: 55999
Gene Symbol: NXF4
NXF4
nuclear RNA export factor 4 pseudogene
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 5986
Gene Symbol: RFNG
RFNG
RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 3.8E-09
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype 0.300 None 1.000 1 0 2008 2008
Entrez Id: 64145
Gene Symbol: RBSN
RBSN
rabenosyn, RAB effector 1.000 2.3E-02
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 644032
Gene Symbol: PHKG1P2
PHKG1P2
phosphorylase kinase catalytic subunit gamma 1 pseudogene 2
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 692088
Gene Symbol: SNORD50B
SNORD50B
small nucleolar RNA, C/D box 50B
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group 0.310 None 1.000 1 0 2016 2016
Entrez Id: 692088
Gene Symbol: SNORD50B
SNORD50B
small nucleolar RNA, C/D box 50B
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 692088
Gene Symbol: SNORD50B
SNORD50B
small nucleolar RNA, C/D box 50B
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 692088
Gene Symbol: SNORD50B
SNORD50B
small nucleolar RNA, C/D box 50B
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 728310
Gene Symbol: GOLGA6L7
GOLGA6L7
golgin A6 family like 7
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 729041
Gene Symbol: FAAHP1
FAAHP1
fatty acid amide hydrolase pseudogene 1
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation
phenotype 0.300 limited 1.000 1 0 2019 2019
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: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A
trafficking protein particle complex 6A 0.931 5.1E-08
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.310 limited 1.000 1 0 2018 2018
Entrez Id: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A
trafficking protein particle complex 6A 0.931 5.1E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2018 2018
Entrez Id: 79649
Gene Symbol: MAP7D3
MAP7D3
MAP7 domain containing 3 4.6E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 1989 1989
Entrez Id: 79883
Gene Symbol: PODNL1
PODNL1
podocan like 1 4.4E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 79949
Gene Symbol: PLEKHS1
PLEKHS1
pleckstrin homology domain containing S1 2.1E-22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 79949
Gene Symbol: PLEKHS1
PLEKHS1
pleckstrin homology domain containing S1 2.1E-22
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 79949
Gene Symbol: PLEKHS1
PLEKHS1
pleckstrin homology domain containing S1 2.1E-22
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 84064
Gene Symbol: HDHD2
HDHD2
haloacid dehalogenase like hydrolase domain containing 2 3.9E-06
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype 0.300 None 1.000 1 0 2008 2008
Entrez Id: 84315
Gene Symbol: MON1A
MON1A
MON1 homolog A, secretory trafficking associated 2.3E-09
CUI: C0012715
Disease: Iron Metabolism Disorders
Iron Metabolism Disorders
group 0.300 None 1.000 1 0 2007 2007
Entrez Id: 85349
Gene Symbol: KRT87P
KRT87P
keratin 87 pseudogene
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
phenotype 0.300 strong 1.000 1 0 2015 2015