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: 427
Gene Symbol: ASAH1
ASAH1
Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
P14780 matrix metallopeptidase 9 Enzyme 1337 0.305 0.923 1.9E-17 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
P45452 matrix metallopeptidase 13 Enzyme 328 0.452 0.923 7.9E-18 0.100 None 0 0
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
Q00872 myosin binding protein C1 51 0.666 0.462 4.8E-05 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
P54802 N-acetyl-alpha-glucosaminidase 152 0.546 0.769 1.4E-08 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE
Q9P2R6 arginine-glutamic acid dipeptide repeats 215 0.526 0.846 1.00 0.100 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
P20594 natriuretic peptide receptor 2 Kinase 122 0.573 0.615 4.2E-05 0.100 None 0 0
Entrez Id: 493856
Gene Symbol: CISD2
CISD2
Q8N5K1 CDGSH iron sulfur domain 2 106 0.590 0.692 0.42 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 184 0.553 0.731 1.00 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
P23760 paired box 3 257 0.481 0.769 0.24 0.100 None 0 0
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
P49585 phosphate cytidylyltransferase 1, choline, alpha 256 0.485 0.885 2.0E-05 0.100 None 0 0
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
P78337 paired like homeodomain 1 109 0.561 0.654 0.88 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: 411
Gene Symbol: ARSB
ARSB
P15848 arylsulfatase B 96 0.595 0.692 7.0E-09 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.100 None 0 0
Entrez Id: 875
Gene Symbol: CBS
CBS
P0DN79 P35520 cystathionine beta-synthase Enzyme 295 0.465 0.885 3.1E-05 0.100 None 0 0
Entrez Id: 8726
Gene Symbol: EED
EED
O75530 embryonic ectoderm development 123 0.588 0.615 1.00 0.100 None 0 0
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2
Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 111 0.593 0.692 0.80 0.100 None 0 0
Entrez Id: 84896
Gene Symbol: ATAD1
ATAD1
Q8NBU5 ATPase family AAA domain containing 1 126 0.545 0.692 1.3E-03 0.100 None 0 0
Entrez Id: 84572
Gene Symbol: GNPTG
GNPTG
Q9UJJ9 N-acetylglucosamine-1-phosphate transferase subunit gamma Enzyme 36 0.705 0.423 4.6E-09 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
P43026 growth differentiation factor 5 Signaling 238 0.511 0.692 0.67 0.100 None 0 0
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
Q8TAA9 VANGL planar cell polarity protein 1 104 0.570 0.538 2.0E-02 0.100 None 0 0