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: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
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: 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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1 0.407 0.885 8.9E-03
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1 0.416 0.846 2.4E-02
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
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: 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: 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: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
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: 1594
Gene Symbol: CYP27B1
CYP27B1
cytochrome P450 family 27 subfamily B member 1 0.502 0.769 1.9E-07
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
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: 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: 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: 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: 3691
Gene Symbol: ITGB4
ITGB4
integrin subunit beta 4 0.525 0.731 9.5E-19
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0