Source: CLINVAR ×
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: 6683
Gene Symbol: SPAST
SPAST 		Q9UBP0 spastin Cellular structure 24 0.579 0.577 1.00 0.460 None 1.000 0 1 2002 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 41 0.436 0.885 2.0E-36 0.120 None 1.000 1 9 2012 2019
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		Q7L5A8 fatty acid 2-hydroxylase Enzyme 15 0.573 0.654 0.15 0.110 None 1.000 0 1 2019 2019
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		O00571 DEAD-box helicase 3 X-linked 54 0.537 0.769 1.00 0.110 None 1.000 0 1 2019 2019
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		P07384 calpain 1 Enzyme 25 0.539 0.808 5.9E-10 0.110 None 1.000 0 1 2016 2016
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 44 0.559 0.692 1.00 0.110 None 1.000 0 1 2014 2014
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 27 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		Q8WYB5 lysine acetyltransferase 6B Enzyme 26 0.525 0.731 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		Q9BUE6 iron-sulfur cluster assembly 1 11 0.792 0.231 0.17 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		Q92794 lysine acetyltransferase 6A Enzyme 18 0.560 0.769 1.00 0.100 None 0 1
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 62 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		Q9GZN7 rogdi atypical leucine zipper 35 0.663 0.462 2.6E-09 0.100 None 0 2
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 49 0.476 0.846 2.5E-10 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		Q9UMN6 lysine methyltransferase 2B 70 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 69 0.663 0.577 0.100 None 0 2
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 40 0.428 0.808 1.00 0.100 None 0 1
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		Q8NCR3 chromosome 11 open reading frame 65 32 0.670 0.462 2.0E-14 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 54 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 46 0.522 0.692 0.94 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		Q2M1P5 kinesin family member 7 35 0.528 0.731 2.3E-22 0.100 None 0 1
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 44 0.374 0.885 5.6E-47 0.100 None 0 1
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 19 0.479 0.808 1.00 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 2