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: 576
Gene Symbol: ADGRB2
ADGRB2
O60241 adhesion G protein-coupled receptor B2 G-protein coupled receptor 8 0.890 0.192 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 37 0.563 0.731 1.00 0.100 None 1.000 1 1 1998 1998
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 30 0.457 0.808 2.2E-16 0.100 None 1.000 1 1 2011 2011
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 27 0.576 0.538 1.6E-39 0.100 None 0 4
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 15 0.573 0.654 0.15 0.100 None 0 1
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 41 0.436 0.885 2.0E-36 0.100 None 0 1
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 30 0.529 0.769 8.1E-07 0.100 None 0 2
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 39 0.551 0.769 8.1E-04 0.100 None 0 1
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 10 0.647 0.423 8.7E-12 0.100 None 0 1
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
Q16650 T-box brain transcription factor 1 Transcription factor 22 0.666 0.385 1.00 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
Q9ULL5 proline rich 12 24 0.716 0.385 1.00 0.100 None 0 1
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
Q9BUK6 misato mitochondrial distribution and morphology regulator 1 15 0.582 0.692 1.6E-09 0.100 None 0 2
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 39 0.636 0.615 3.0E-16 0.100 None 0 1
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 13 0.511 0.846 0.90 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 70 0.303 0.885 1.00 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 69 0.587 0.731 1.00 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