Source: HPO

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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3 		troponin T3, fast skeletal type 0.653 0.308 2.1E-07
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C 		DNA cross-link repair 1C 0.544 0.808 2.5E-07
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 3575
Gene Symbol: IL7R
IL7R 		interleukin 7 receptor 0.487 0.769 3.8E-07
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		DNA ligase 4 0.478 0.846 4.2E-06
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 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: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		recombination activating 1 0.509 0.769 2.8E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 1513
Gene Symbol: CTSK
CTSK 		cathepsin K 0.497 0.808 3.1E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2879
Gene Symbol: GPX4
GPX4 		glutathione peroxidase 4 0.516 0.808 4.8E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57 		chromosome 12 open reading frame 57 0.641 0.500 5.2E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2690
Gene Symbol: GHR
GHR 		growth hormone receptor 0.490 0.846 8.4E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1 		inositol monophosphatase domain containing 1 0.700 0.385 1.5E-02
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		recombination activating 2 0.507 0.769 2.0E-02
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0