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: 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: 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: 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: 50945
Gene Symbol: TBX22
TBX22 		T-box transcription factor 22 0.603 0.577 0.98
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4 		splicing factor 3b subunit 4 0.576 0.615 0.99
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: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 23384
Gene Symbol: SPECC1L
SPECC1L 		sperm antigen with calponin homology and coiled-coil domains 1 like 0.593 0.654 0.86
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2313
Gene Symbol: FLI1
FLI1 		Fli-1 proto-oncogene, ETS transcription factor 0.468 0.692 0.99
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
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: 5745
Gene Symbol: PTH1R
PTH1R 		parathyroid hormone 1 receptor 0.544 0.731 0.57
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: 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: 2239
Gene Symbol: GPC4
GPC4 		glypican 4 0.547 0.769 0.93
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2 		RAB3 GTPase activating non-catalytic protein subunit 2 0.584 0.769 0.99
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		interleukin 2 receptor subunit gamma 0.535 0.769 0.99
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: 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: 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: 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: 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