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: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		agrin 0.626 0.538 5.5E-07
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 178
Gene Symbol: AGL
AGL 		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 283
Gene Symbol: ANG
ANG 		angiogenin 0.511 0.769 0.29
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		ataxin 1 0.534 0.769 0.97
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		ataxin 3 0.521 0.808 0.11
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.120 None 1.000 0 0 2002 2003
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		atlastin GTPase 1 0.593 0.654 0.98
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 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: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1 		beta-1,4-N-acetyl-galactosaminyltransferase 1 0.644 0.615 3.9E-05
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 11261
Gene Symbol: CHP1
CHP1 		calcineurin like EF-hand protein 1 0.546 0.769 0.63
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 22948
Gene Symbol: CCT5
CCT5 		chaperonin containing TCP1 subunit 5 0.663 0.462 1.00
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12 		chromosome 19 open reading frame 12 0.641 0.615 0.34
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY 		Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1 		collagen type XIII alpha 1 chain 0.608 0.654 3.7E-14
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 65260
Gene Symbol: COA7
COA7 		cytochrome c oxidase assembly factor 7 (putative) 0.792 0.231 6.0E-02
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0