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: 1311
Gene Symbol: COMP
COMP 		cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 64359
Gene Symbol: NXN
NXN 		nucleoredoxin 0.584 0.577 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 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: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3 		troponin T3, fast skeletal type 0.653 0.308 2.1E-07
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		tropomyosin 2 0.530 0.654 2.4E-04
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 7421
Gene Symbol: VDR
VDR 		vitamin D receptor 0.352 0.885 1.7E-05
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 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: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 2733
Gene Symbol: GLE1
GLE1 		GLE1 RNA export mediator 0.628 0.577 2.1E-10
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0