Source: ALL

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: 85478
Gene Symbol: CCDC65
CCDC65
coiled-coil domain containing 65 0.674 0.500 5.8E-11
CUI: C3809701
Disease: CILIARY DYSKINESIA, PRIMARY, 27
CILIARY DYSKINESIA, PRIMARY, 27
disease 0.600 None 0 2
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked
disease 0.600 None 0 3
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
disease 0.600 strong 0 3
Entrez Id: 3659
Gene Symbol: IRF1
IRF1
interferon regulatory factor 1 0.468 0.769 0.99
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group 0.600 None 0 1
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56
disease 0.600 None 0 5
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
radial spoke head component 9 0.659 0.615 2.4E-09
CUI: C2675228
Disease: CILIARY DYSKINESIA, PRIMARY, 12
CILIARY DYSKINESIA, PRIMARY, 12
disease 0.600 None 0 2
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.600 None 0 7
Entrez Id: 6900
Gene Symbol: CNTN2
CNTN2
contactin 2 0.581 0.692 2.1E-03
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
disease 0.600 None 0 1
Entrez Id: 396
Gene Symbol: ARHGDIA
ARHGDIA
Rho GDP dissociation inhibitor alpha 0.663 0.577 3.6E-02
CUI: C3808953
Disease: NEPHROTIC SYNDROME, TYPE 8
NEPHROTIC SYNDROME, TYPE 8
disease 0.600 strong 0 3
Entrez Id: 640
Gene Symbol: BLK
BLK
BLK proto-oncogene, Src family tyrosine kinase 0.585 0.769 8.3E-14
Maturity-onset diabetes of the young, type 11
disease 0.600 limited 0 2
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
PDZ domain containing 7 0.659 0.385 7.6E-10
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
disease 0.600 limited 0 2
Entrez Id: 843
Gene Symbol: CASP10
CASP10
caspase 10 0.528 0.692 4.6E-12
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group 0.600 None 0 2
Entrez Id: 11181
Gene Symbol: TREH
TREH
trehalase 0.670 0.654 9.0E-15
CUI: C0268187
Disease: alpha, alpha-Trehalase deficiency
alpha, alpha-Trehalase deficiency
disease 0.600 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
disease 0.600 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
disease 0.600 None 0 1
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
neurofilament heavy 0.588 0.769 2.7E-12
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
disease 0.600 None 0 2
Entrez Id: 4751
Gene Symbol: NEK2
NEK2
NIMA related kinase 2 0.572 0.692 1.2E-06
CUI: C3809954
Disease: RETINITIS PIGMENTOSA 67
RETINITIS PIGMENTOSA 67
disease 0.600 limited 0 1
Entrez Id: 8438
Gene Symbol: RAD54L
RAD54L
RAD54 like 0.633 0.423 2.4E-15
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
disease 0.600 None 0 1
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C3150682
Disease: LEFT VENTRICULAR NONCOMPACTION 4
LEFT VENTRICULAR NONCOMPACTION 4
disease 0.600 strong 0 1
Entrez Id: 8438
Gene Symbol: RAD54L
RAD54L
RAD54 like 0.633 0.423 2.4E-15
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease 0.600 None 0 1
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
MACULAR DEGENERATION, AGE-RELATED, 5
disease 0.600 limited 0 5
Entrez Id: 11216
Gene Symbol: AKAP10
AKAP10
A-kinase anchoring protein 10 0.760 0.308 0.11
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart
group 0.500 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.500 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder)
disease 0.500 strong 0 2
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
solute carrier family 22 member 18 0.595 0.692 6.5E-06
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group 0.500 None 0 0