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: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 1
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2
multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
WD repeat domain 11 0.524 0.808 1.4E-08
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
misato mitochondrial distribution and morphology regulator 1 0.582 0.692 1.6E-09
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
ATPase H+ transporting V1 subunit E1 0.610 0.769 0.53
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
prokineticin 2 0.555 0.769 1.4E-02
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 1
Entrez Id: 9394
Gene Symbol: HS6ST1
HS6ST1
heparan sulfate 6-O-sulfotransferase 1 0.617 0.731 0.92
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 9361
Gene Symbol: LONP1
LONP1
lon peptidase 1, mitochondrial 0.517 0.808 1.00
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 8822
Gene Symbol: FGF17
FGF17
fibroblast growth factor 17 0.593 0.692 0.96
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
serpin family H member 1 0.545 0.769 2.8E-02
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
KISS1 receptor 0.515 0.769 0.44
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 81848
Gene Symbol: SPRY4
SPRY4
sprouty RTK signaling antagonist 4 0.553 0.769 4.8E-04
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
tachykinin receptor 3 0.553 0.769 1.8E-17
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 6866
Gene Symbol: TAC3
TAC3
tachykinin precursor 3 0.604 0.731 1.2E-02
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 1
Entrez Id: 3814
Gene Symbol: KISS1
KISS1
KiSS-1 metastasis suppressor 0.507 0.808 0.49
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 1
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype 0.100 None 0 0