Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1 		UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		disease 1.000 None 0.984 2 0 1992 2019
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1 		secreted LY6/PLAUR domain containing 1 0.560 0.654 0.26
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		disease 1.000 strong 0.973 2 0 2001 2019
Entrez Id: 6442
Gene Symbol: SGCA
SGCA 		sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		disease 1.000 None 1.000 2 0 1994 2019
Entrez Id: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease 1.000 definitive 0.992 2 0 1997 2019
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease 1.000 definitive 1.000 2 0 1993 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease 1.000 strong 1.000 2 0 2003 2019
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 1.000 limited 1.000 2 0 1994 2019
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A 		EPM2A glucan phosphatase, laforin 0.608 0.577 8.7E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		disease 1.000 None 0.965 2 0 1998 2020
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		disease 1.000 strong 1.000 2 0 2000 2020
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11 		solute carrier family 4 member 11 0.674 0.385 4.6E-15
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		disease 1.000 None 1.000 2 0 2006 2020
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		disease 1.000 definitive 1.000 2 0 2002 2020
Entrez Id: 8838
Gene Symbol: CCN6
CCN6 		cellular communication network factor 6 0.568 0.731 6.2E-04
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		disease 1.000 strong 0.968 2 0 1999 2019
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		disease 1.000 None 0.974 1 0 2000 2019
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease 1.000 definitive 0.981 1 0 2001 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 1.000 None 0.979 1 0 1989 2020
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5 		serine peptidase inhibitor Kazal type 5 0.604 0.654 4.8E-28
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		disease 1.000 strong 0.982 1 0 2000 2019
Entrez Id: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease 1.000 None 0.982 1 0 1968 2019
Entrez Id: 114327
Gene Symbol: EFHC1
EFHC1 		EF-hand domain containing 1 0.659 0.231 1.9E-17
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease 1.000 disputed 0.979 1 0 1993 2019
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5 		C1q and TNF related 5 0.663 0.346 0.84
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		disease 1.000 None 1.000 1 0 2003 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		disease 1.000 None 1.000 1 0 1997 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		disease 1.000 None 0.994 1 0 1990 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		disease 1.000 None 0.976 1 0 1988 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		disease 1.000 None 1.000 1 0 1988 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		disease 1.000 None 0.981 1 0 1989 2020
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		collagen type VI alpha 3 chain 0.563 0.769 1.8E-20
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		disease 1.000 strong 1.000 1 0 2002 2018