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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 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: C0019553
Disease: Hip Contracture
Hip Contracture
disease 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: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
solute carrier family 6 member 9 0.641 0.500 2.2E-05
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
mitogen-activated protein kinase kinase kinase 7 0.477 0.808 1.00
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1
troponin T1, slow skeletal type 0.633 0.577 7.0E-14
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
solute carrier family 10 member 7 0.711 0.269 2.0E-05
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 84992
Gene Symbol: PIGY
PIGY
phosphatidylinositol glycan anchor biosynthesis class Y 0.628 0.577 9.7E-02
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20
mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
myosin light chain 2 0.601 0.615 2.7E-08
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
striated muscle enriched protein kinase 0.686 0.385 0.92
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
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: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
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: C0019553
Disease: Hip Contracture
Hip Contracture
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: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease 0.100 None 0 0