Source: CTD_human

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: 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 0 0 2000 2019
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2 		solute carrier family 19 member 2 0.636 0.692 4.3E-04
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		disease 1.000 None 1.000 0 0 1997 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		disease 1.000 definitive 1.000 0 0 1998 2019
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		disease 1.000 None 0.958 0 0 2009 2019
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9 		solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 1.000 0 0 1999 2018
Entrez Id: 1121
Gene Symbol: CHM
CHM 		CHM Rab escort protein 0.592 0.654 1.00
CUI: C0008525
Disease: Choroideremia
Choroideremia 		disease 1.000 None 0.965 0 0 1987 2020
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 0 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 0 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 0 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 0 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 0 0 1990 2019
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 0 0 1989 2020
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 0 0 1980 2019
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		disease 1.000 None 1.000 0 0 1993 2019
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 0 0 2002 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		disease 1.000 strong 0.983 0 0 1993 2020
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease 1.000 definitive 1.000 0 0 2002 2018
Entrez Id: 1629
Gene Symbol: DBT
DBT 		dihydrolipoamide branched chain transacylase E2 0.638 0.462 1.0E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		disease 1.000 definitive 1.000 0 0 1991 2020
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		phenotype 1.000 None 0.960 0 0 1990 2019
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3 		solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		disease 1.000 strong 0.964 0 0 1996 2019
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 1.000 moderate 1.000 0 0 1994 2018
Entrez Id: 197131
Gene Symbol: UBR1
UBR1 		ubiquitin protein ligase E3 component n-recognin 1 0.612 0.731 5.5E-03
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		disease 1.000 strong 1.000 0 0 2002 2018
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 1.000 definitive 0.935 0 0 1977 2017
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		disease 1.000 definitive 1.000 0 0 1990 2019
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease 1.000 definitive 1.000 0 0 1988 2019