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: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.400 strong 1.000 0 0 2013 2013
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.400 strong 1.000 0 0 1991 2004
Entrez Id: 7704
Gene Symbol: ZBTB16
ZBTB16 		zinc finger and BTB domain containing 16 0.545 0.808 1.00
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		T-box transcription factor 5 0.528 0.769 1.00
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON 		SON DNA binding protein 0.565 0.769 1.00
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 6154
Gene Symbol: RPL26
RPL26 		ribosomal protein L26 0.695 0.423 0.92
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4 		spalt like transcription factor 4 0.489 0.769 1.00
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14 		VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3 		ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		FA complementation group C 0.507 0.808 2.8E-13
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 2178
Gene Symbol: FANCE
FANCE 		FA complementation group E 0.553 0.808 1.5E-06
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		FA complementation group B 0.468 0.769 1.00
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 340419
Gene Symbol: RSPO2
RSPO2 		R-spondin 2 0.558 0.577 2.5E-02
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4 		receptor interacting serine/threonine kinase 4 0.565 0.654 4.0E-03
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4 		splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.100 None 0 0