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: 4632
Gene Symbol: MYL1
MYL1 		myosin light chain 1 0.839 0.346 1.3E-04
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 112812
Gene Symbol: FDX2
FDX2 		ferredoxin 2 0.780 0.346 1.7E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 1781
Gene Symbol: DYNC1I2
DYNC1I2 		dynein cytoplasmic 1 intermediate chain 2 0.760 0.385 1.1E-08
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ 		protein tyrosine phosphatase receptor type Q 0.751 0.462 4.2E-21
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 93587
Gene Symbol: TRMT10A
TRMT10A 		tRNA methyltransferase 10A 0.743 0.385 3.9E-10
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 10229
Gene Symbol: COQ7
COQ7 		coenzyme Q7, hydroxylase 0.736 0.462 3.8E-06
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 64837
Gene Symbol: KLC2
KLC2 		kinesin light chain 2 0.736 0.346 0.98
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13 		kelch repeat and BTB domain containing 13 0.729 0.385 2.3E-10
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1 		cytochrome P450 family 2 subfamily U member 1 0.722 0.462 1.4E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40 		kelch like family member 40 0.722 0.385 3.5E-06
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14 		ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 3739
Gene Symbol: KCNA4
KCNA4 		potassium voltage-gated channel subfamily A member 4 0.716 0.423 0.98
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 9711
Gene Symbol: RUBCN
RUBCN 		rubicon autophagy regulator 0.716 0.423 1.4E-13
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 1187
Gene Symbol: CLCNKA
CLCNKA 		chloride voltage-gated channel Ka 0.711 0.385 4.2E-17
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 121340
Gene Symbol: SP7
SP7 		Sp7 transcription factor 0.711 0.462 0.58
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 1615
Gene Symbol: DARS1
DARS1 		aspartyl-tRNA synthetase 1 0.711 0.500 8.5E-06
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 23404
Gene Symbol: EXOSC2
EXOSC2 		exosome component 2 0.711 0.462 2.9E-06
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 116228
Gene Symbol: COX20
COX20 		cytochrome c oxidase assembly factor COX20 0.705 0.538 2.0E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 372
Gene Symbol: ARCN1
ARCN1 		archain 1 0.705 0.462 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3 		potassium voltage-gated channel subfamily C member 3 0.705 0.462 0.21
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 84987
Gene Symbol: COX14
COX14 		cytochrome c oxidase assembly factor COX14 0.705 0.577 0.36
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1 		ring finger and SPRY domain containing 1 0.705 0.385 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		cytochrome c oxidase subunit 6B1 0.700 0.577 0.12
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0