Source: INFERRED

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: 3914
Gene Symbol: LAMB3
LAMB3
laminin subunit beta 3 0.558 0.692 2.3E-15
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 93650
Gene Symbol: ACP4
ACP4
acid phosphatase 4 0.805 0.269 8.6E-15
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2961
Gene Symbol: GTF2E2
GTF2E2
general transcription factor IIE subunit 2 0.617 0.692 3.9E-02
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
general transcription factor IIH subunit 5 0.556 0.769 4.5E-02
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
laminin subunit gamma 2 0.389 0.923 2.9E-12
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 55746
Gene Symbol: NUP133
NUP133
nucleoporin 133 0.678 0.577 9.3E-05
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 57511
Gene Symbol: COG6
COG6
component of oligomeric golgi complex 6 0.644 0.577 6.4E-16
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 9361
Gene Symbol: LONP1
LONP1
lon peptidase 1, mitochondrial 0.517 0.808 1.00
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
claudin 1 0.481 0.808 1.0E-03
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 8675
Gene Symbol: STX16
STX16
syntaxin 16 0.656 0.538 0.48
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 83479
Gene Symbol: DDX59
DDX59
DEAD-box helicase 59 0.650 0.423 5.9E-07
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
nectin cell adhesion molecule 4 0.599 0.538 0.84
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
grainyhead like transcription factor 2 0.590 0.731 1.00
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0