Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.010 None 1.000 1 0 2018 2018
Entrez Id: 261
Gene Symbol: AMCN
AMCN
arthrogryposis multiplex congenita, neurogenic 42 0.682 0.615 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
glucosylceramidase beta pseudogene 1 64 0.623 0.538 0.010 None 1.000 1 0 2000 2000
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 124 0.544 0.731 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8056
Gene Symbol: ECB2
ECB2
erythrocytosis, autosomal recessive benign 2 8 0.805 0.308 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4558
Gene Symbol: TRNF
TRNF
tRNA 148 0.582 0.731 0.100 None 0 0
Entrez Id: 4564
Gene Symbol: TRNH
TRNH
tRNA 125 0.597 0.731 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 234 0.534 0.731 0.100 None 0 0
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
tRNA 137 0.590 0.731 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 186 0.555 0.808 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
tRNA 152 0.579 0.731 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
tRNA 188 0.563 0.731 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 61 0.670 0.538 0.100 None 0 0
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
B2RTY4 myosin IXA 95 0.647 0.500 0.49 0.600 limited 1.000 4 0 1998 2016
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13
C9JR72 kelch repeat and BTB domain containing 13 55 0.729 0.385 2.3E-10 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
O00468 agrin 124 0.626 0.538 5.5E-07 0.100 None 0 0
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2
O00469 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Enzyme 114 0.559 0.654 6.7E-08 0.100 None 0 0
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
O14656 torsin family 1 member A Chaperone 115 0.566 0.731 5.1E-04 0.020 None 1.000 2 0 2017 2019
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 0.100 None 0 0
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
O43175 phosphoglycerate dehydrogenase Enzyme 288 0.484 0.885 1.3E-04 0.100 None 0 0
Entrez Id: 112
Gene Symbol: ADCY6
ADCY6
O43306 adenylate cyclase 6 28 0.729 0.500 5.8E-03 0.110 None 1.000 1 0 2014 2014
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
O60282 kinesin family member 5C Cellular structure 33 0.686 0.346 1.00 0.100 None 0 0
Entrez Id: 23396
Gene Symbol: PIP5K1C
PIP5K1C
O60331 phosphatidylinositol-4-phosphate 5-kinase type 1 gamma Kinase 15 0.792 0.346 0.98 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
O60662 kelch like family member 41 94 0.682 0.538 1.1E-04 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 95 0.588 0.654 1.00 0.100 None 0 0