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: 83932
Gene Symbol: SPRTN
SPRTN
SprT-like N-terminal domain 0.691 0.500 0.97
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
transmembrane protein 43 0.653 0.462 1.2E-12
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A
Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
paired like homeodomain 1 0.561 0.654 0.88
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
four and a half LIM domains 1 0.532 0.731 0.97
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
fibrillin 2 0.505 0.808 1.00
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 1.000 0 0 1995 1999
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1
collagen type XII alpha 1 chain 0.615 0.692 0.97
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
collagen type VI alpha 3 chain 0.563 0.769 1.8E-20
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
ER lipid raft associated 2 0.647 0.500 6.7E-04
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
spectrin repeat containing nuclear envelope protein 2 0.623 0.692 1.7E-25
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease 0.100 None 0 0