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: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
disease 1.000 0.989 0 0 1999 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease 1.000 0.913 0 0 1997 2018
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.696 0.379 2.0E-12
Medium-chain acyl-coenzyme A dehydrogenase deficiency
disease 1.000 1.000 0 0 1984 2017
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.573 0.552 0.38
Fibrodysplasia Ossificans Progressiva
disease 1.000 1.000 0 0 1972 2018
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.570 0.621 8.2E-04
Hereditary hemorrhagic telangiectasia
disease 1.000 strong 1.000 0 0 1996 2017
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.627 0.724 5.2E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
phenotype 1.000 0.946 0 0 1983 2018
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.681 0.448 2.4E-24
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
disease 1.000 0.974 0 0 1988 2017
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
nuclear receptor subfamily 0 group B member 1 0.512 0.621 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 1.000 strong 0.986 0 0 1982 2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, liver/bone/kidney 0.564 0.621 3.5E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
disease 1.000 1.000 0 0 1988 2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.550 0.621 6.7E-12
Polyglandular Type I Autoimmune Syndrome
disease 1.000 0.945 0 0 1967 2018
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.393 0.862 0.84
Autoimmune Lymphoproliferative Syndrome
disease 1.000 0.941 0 0 1978 2017
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 0.940 0 0 1970 2018
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.590 0.552 4.8E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease 1.000 0.906 0 0 2000 2018
Entrez Id: 383
Gene Symbol: ARG1
ARG1
arginase 1 0.551 0.724 3.3E-04
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
phenotype 1.000 1.000 0 0 1979 2018
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
N-acylsphingosine amidohydrolase 1 0.570 0.690 9.3E-12
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis
disease 1.000 1.000 0 0 1989 2015
Entrez Id: 435
Gene Symbol: ASL
ASL
argininosuccinate lyase 0.690 0.345 3.8E-09
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria
disease 1.000 1.000 0 0 1987 2017
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
serpin family C member 1 0.554 0.621 1.00
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
disease 1.000 0.941 0 0 1965 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 0.944 0 0 1978 2018
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.572 0.552 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
disease 1.000 0.983 0 0 1999 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.518 0.655 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 0.958 0 0 1953 2018
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.547 0.621 5.4E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 0.976 0 0 1983 2018
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX, chromatin remodeler 0.489 0.690 1.00
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
disease 1.000 1.000 0 0 1993 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.486 0.759 7.5E-02
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
disease 1.000 1.000 0 0 1982 2018
Entrez Id: 641
Gene Symbol: BLM
BLM
Bloom syndrome RecQ like helicase 0.562 0.690 9.3E-15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease 1.000 0.948 0 0 1981 2018
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.580 0.517 0.85
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease 1.000 definitive 1.000 0 0 2000 2017