Source: MGD

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: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C0029607
Disease: Other emphysema
Other emphysema 		phenotype 0.200 None 1.000 12 0 1971 2015
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.220 None 1.000 12 0 1971 2017
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		disease 0.810 None 1.000 12 0 1971 2018
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 12 0 1978 2008
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		disease 0.940 definitive 1.000 12 0 1978 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria 		disease 1.000 None 0.967 12 0 2003 2020
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 1.000 strong 0.976 12 0 1987 2020
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C1845168
Disease: Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic Rickets, X-Linked Recessive 		disease 0.500 None 1.000 12 0 1988 2018
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		disease 0.600 None 1.000 12 0 1988 2020
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.900 definitive 0.979 12 0 1988 2020
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		disease 1.000 definitive 0.986 12 0 1992 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		disease 1.000 definitive 1.000 12 0 1953 2019
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 12 0 1966 2011
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID 		disease 0.860 None 0.960 12 0 1966 2016
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C3152102
Disease: USH1D/F, CDH23/PCDH15, DIGENIC
USH1D/F, CDH23/PCDH15, DIGENIC 		disease 0.200 None 1.000 12 0 1966 2008
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C3275872
Disease: USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC
USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC 		disease 0.200 None 1.000 12 0 1966 2008
Entrez Id: 7068
Gene Symbol: THRB
THRB 		thyroid hormone receptor beta 0.554 0.769 1.00
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		disease 0.900 strong 0.973 12 0 1990 2019
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0012715
Disease: Iron Metabolism Disorders
Iron Metabolism Disorders 		group 0.300 None 1.000 11 0 1999 2014
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease 0.700 None 0.975 11 0 1991 2020
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		disease 0.900 None 0.979 11 0 1987 2019
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		nitric oxide synthase 1 0.408 0.885 1.00
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		disease 0.240 None 1.000 11 0 1993 2011
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		disease 0.540 None 1.000 11 0 1995 2017
Entrez Id: 718
Gene Symbol: C3
C3 		complement C3 0.445 0.885 0.90
CUI: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency 		disease 0.630 strong 1.000 11 0 1972 2013
Entrez Id: 7299
Gene Symbol: TYR
TYR 		tyrosinase 0.473 0.808 5.0E-32
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		disease 0.200 None 1.000 11 0 1981 2011
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease 1.000 definitive 0.985 10 0 1991 2020