Source: GENOMICS_ENGLAND

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: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.400 None 1.000 2 0 2015 2019
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
protein phosphatase 2 catalytic subunit alpha 0.608 0.769 0.99
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2014 2014
Entrez Id: 6602
Gene Symbol: SMARCD1
SMARCD1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 0.695 0.385 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A
RNA polymerase II subunit A 0.650 0.423 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 4330
Gene Symbol: MN1
MN1
MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2005 2005
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13
ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
MSL complex subunit 3 0.861 0.115 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2018 2018