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: 55676
Gene Symbol: SLC30A6
SLC30A6
Q6NXT4 solute carrier family 30 member 6 Transporter 19 0.711 0.346 6.9E-09 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9314
Gene Symbol: KLF4
KLF4
O43474 Kruppel like factor 4 Nucleic acid binding 307 0.449 0.769 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
Q9UNE7 STIP1 homology and U-box containing protein 1 155 0.544 0.692 1.9E-02 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54729
Gene Symbol: NKX1-1
NKX1-1
Q15270 NK1 homeobox 1 Transcription factor 2 1.000 0.077 0.71 0.010 None 1.000 1 0 2014 2014
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
Q86SX6 glutaredoxin 5 Enzyme 70 0.659 0.538 0.75 0.010 None 1.000 1 0 2014 2014
Entrez Id: 383
Gene Symbol: ARG1
ARG1
P05089 arginase 1 Enzyme 273 0.476 0.846 3.6E-04 0.010 None 1.000 1 0 2015 2015
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
Q96GD0 pyridoxal phosphatase Enzyme 149 0.533 0.731 0.26 0.010 None 1.000 1 0 1998 1998
Entrez Id: 1612
Gene Symbol: DAPK1
DAPK1
P53355 death associated protein kinase 1 Kinase 249 0.472 0.808 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
Q9UHD9 ubiquilin 2 59 0.656 0.462 0.85 0.010 None 1.000 1 1 2017 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
P12272 parathyroid hormone like hormone 321 0.453 0.846 0.81 0.010 None 1.000 1 0 1998 1998
Entrez Id: 338090
Gene Symbol: SPG24
SPG24
spastic paraplegia 24 (autosomal recessive) 2 0.931 0.077 0.010 None 1.000 1 0 2007 2007
Entrez Id: 57309
Gene Symbol: SPG14
SPG14
spastic paraplegia 14 (autosomal recessive) 3 0.890 0.192 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8630
Gene Symbol: HSD17B6
HSD17B6
O14756 hydroxysteroid 17-beta dehydrogenase 6 Enzyme 82 0.592 0.692 0.35 0.010 None 1.000 1 0 2006 2006
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.010 None 1.000 1 0 1995 1995
Entrez Id: 57760
Gene Symbol: SPG16
SPG16
spastic paraplegia 16 (complicated, X-linked recessive) 18 0.722 0.423 0.020 None 1.000 2 0 1996 2017
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.020 None 1.000 2 0 1996 2017
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.020 None 1.000 2 0 1997 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.020 None 1.000 2 0 2007 2010
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.100 None 1.000 2 2 2012 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 1.000 2 1 1999 2017
Entrez Id: 339855
Gene Symbol: KY
KY
Q8NBH2 kyphoscoliosis peptidase 39 0.736 0.231 1.5E-10 0.100 None 1.000 1 1 2017 2017
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 64 0.674 0.385 1.7E-06 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
P54762 EPH receptor B1 Kinase 169 0.518 0.846 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 9101
Gene Symbol: USP8
USP8
P40818 ubiquitin specific peptidase 8 Enzyme 136 0.587 0.654 1.00 0.100 None 0 0