Source: BEFREE

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: 2990
Gene Symbol: GUSB
GUSB 		glucuronidase beta 0.530 0.846 4.0E-08
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease 0.010 None 1.000 1 0 1970 1970
Entrez Id: 1776
Gene Symbol: DNASE1L3
DNASE1L3 		deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0302142
Disease: Deformity
Deformity 		group 0.010 None 1.000 1 0 1971 1971
Entrez Id: 1776
Gene Symbol: DNASE1L3
DNASE1L3 		deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0740404
Disease: Limb defects
Limb defects 		group 0.010 None 1.000 1 0 1971 1971
Entrez Id: 1776
Gene Symbol: DNASE1L3
DNASE1L3 		deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.010 None 1.000 1 0 1971 1971
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		arylsulfatase A 0.448 0.923 1.1E-11
CUI: C1706192
Disease: Sulfatidosis
Sulfatidosis 		disease 0.010 None 1.000 1 0 1971 1971
Entrez Id: 1776
Gene Symbol: DNASE1L3
DNASE1L3 		deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.010 None 1.000 1 0 1971 1971
Entrez Id: 3048
Gene Symbol: HBG2
HBG2 		hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease 0.010 None 1.000 1 0 1972 1972
Entrez Id: 83716
Gene Symbol: CRISPLD2
CRISPLD2 		cysteine rich secretory protein LCCL domain containing 2 0.585 0.769 7.8E-09
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 0.010 None 1.000 1 0 1972 1972
Entrez Id: 3048
Gene Symbol: HBG2
HBG2 		hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		disease 0.010 None 1.000 1 1 1972 1972
Entrez Id: 3048
Gene Symbol: HBG2
HBG2 		hemoglobin subunit gamma 2 0.565 0.692 0.67
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease 0.010 None 1.000 1 0 1972 1972
Entrez Id: 7200
Gene Symbol: TRH
TRH 		thyrotropin releasing hormone 0.519 0.846 8.9E-04
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases 		group 0.010 None 1.000 1 0 1973 1973
Entrez Id: 213
Gene Symbol: ALB
ALB 		albumin 0.317 0.962 0.64
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease 0.010 None 1.000 1 0 1973 1973
Entrez Id: 759
Gene Symbol: CA1
CA1 		carbonic anhydrase 1 0.623 0.769 4.7E-11
CUI: C0456042
Disease: Transient neonatal renal tubular acidosis
Transient neonatal renal tubular acidosis 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 100302736
Gene Symbol: TMED7-TICAM2
TMED7-TICAM2 		TMED7-TICAM2 readthrough 0.438 0.769 2.6E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 759
Gene Symbol: CA1
CA1 		carbonic anhydrase 1 0.623 0.769 4.7E-11
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype 0.010 None 1.000 1 0 1974 1974
Entrez Id: 10534
Gene Symbol: ZNRD2
ZNRD2 		zinc ribbon domain containing 2 0.443 0.769 1.8E-07
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 10534
Gene Symbol: ZNRD2
ZNRD2 		zinc ribbon domain containing 2 0.443 0.769 1.8E-07
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 85340
Gene Symbol: KRT90P
KRT90P 		keratin 90 pseudogene 0.751 0.423
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group 0.010 None 1.000 1 0 1974 1974
Entrez Id: 5715
Gene Symbol: PSMD9
PSMD9 		proteasome 26S subunit, non-ATPase 9 0.435 0.846 4.9E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 28
Gene Symbol: ABO
ABO 		ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase 0.427 0.885
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 353376
Gene Symbol: TICAM2
TICAM2 		toll like receptor adaptor molecule 2 0.438 0.769 2.6E-03
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 353376
Gene Symbol: TICAM2
TICAM2 		toll like receptor adaptor molecule 2 0.438 0.769 2.6E-03
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 100302736
Gene Symbol: TMED7-TICAM2
TMED7-TICAM2 		TMED7-TICAM2 readthrough 0.438 0.769 2.6E-03
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 51014
Gene Symbol: TMED7
TMED7 		transmembrane p24 trafficking protein 7 0.436 0.808 0.48
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease 0.010 None 1.000 1 0 1974 1974
Entrez Id: 51014
Gene Symbol: TMED7
TMED7 		transmembrane p24 trafficking protein 7 0.436 0.808 0.48
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease 0.010 None 1.000 1 0 1974 1974