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: 6925
Gene Symbol: TCF4
TCF4 		transcription factor 4 0.464 0.846 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 7430
Gene Symbol: EZR
EZR 		ezrin 0.476 0.808 0.18
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		tafazzin 0.477 0.808 0.73
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A 		TNF receptor superfamily member 11a 0.480 0.846 8.8E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 7253
Gene Symbol: TSHR
TSHR 		thyroid stimulating hormone receptor 0.486 0.808 3.0E-15
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		synaptosome associated protein 25 0.489 0.808 0.99
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1 		Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 2690
Gene Symbol: GHR
GHR 		growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD 		dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0