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: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
DNA methyltransferase 1 0.406 0.885 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 4311
Gene Symbol: MME
MME
membrane metalloendopeptidase 0.407 0.808 1.5E-18
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
WNK lysine deficient protein kinase 1 0.416 0.846 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
heat shock protein family B (small) member 1 0.436 0.808 2.8E-07
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
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: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0