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: 9531
Gene Symbol: BAG3
BAG3 		BAG cochaperone 3 0.498 0.846 0.62
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		synaptosome associated protein 25 0.489 0.808 0.99
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3 		solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		selenoprotein N 0.575 0.692 9.8E-10
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K 		inositol polyphosphate-5-phosphatase K 0.587 0.654 4.2E-05
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB 		nebulin 0.608 0.692 4.6E-41
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A 		myosin IXA 0.647 0.500 0.49
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1 		vesicle associated membrane protein 1 0.628 0.538 3.9E-03
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		tropomyosin 2 0.530 0.654 2.4E-04
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 9325
Gene Symbol: TRIP4
TRIP4 		thyroid hormone receptor interactor 4 0.641 0.654 6.0E-07
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1 		ORAI calcium release-activated calcium modulator 1 0.520 0.808 1.9E-05
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 84665
Gene Symbol: MYPN
MYPN 		myopalladin 0.612 0.615 2.6E-06
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		calpain 3 0.564 0.615 3.6E-19
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43 		transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0