Source: INFERRED

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: 6452
Gene Symbol: SH3BP2
SH3BP2 		SH3 domain binding protein 2 0.623 0.654 1.2E-11
CUI: C0008029
Disease: Cherubism
Cherubism 		disease 1.000 None 0.971 0 4 2001 2019
Entrez Id: 355
Gene Symbol: FAS
FAS 		Fas cell surface death receptor 0.372 0.923 0.81
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		disease 1.000 strong 1.000 0 2 1978 2018
Entrez Id: 1371
Gene Symbol: CPOX
CPOX 		coproporphyrinogen oxidase 0.488 0.846 0.17
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		disease 1.000 strong 0.938 0 1 1983 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease 1.000 strong 0.938 0 0 1983 2011
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		uromodulin 0.520 0.846 3.1E-17
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		disease 1.000 None 1.000 0 15 2001 2018
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 7 1994 2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease 1.000 definitive 1.000 0 3 2012 2020
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease 1.000 None 0.988 0 1 1995 2019
Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37 		tripartite motif containing 37 0.610 0.654 9.7E-12
CUI: C0524582
Disease: Mulibrey Nanism
Mulibrey Nanism 		disease 1.000 None 1.000 0 13 1999 2020
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 0 11 1988 2012
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group 1.000 strong 0.941 0 10 1992 2019
Entrez Id: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		disease 1.000 strong 1.000 0 38 1983 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease 1.000 None 1.000 0 5 1992 2019
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3 		TIMP metallopeptidase inhibitor 3 0.445 0.923 0.63
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		disease 1.000 limited 1.000 0 5 1994 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		disease 1.000 None 1.000 0 12 1975 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 0 6 2001 2019
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		myotubularin related protein 2 0.659 0.538 3.0E-07
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		disease 1.000 None 1.000 0 5 1999 2018
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA 		glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease 1.000 None 1.000 0 1 1990 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.985 0 2 2001 2020
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2 		neurobeachin like 2 0.617 0.769 6.0E-02
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		disease 1.000 definitive 0.917 0 9 2010 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.973 0 9 1982 2020
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 1.000 limited 0.929 0 1 2000 2018
Entrez Id: 1311
Gene Symbol: COMP
COMP 		cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		disease 1.000 None 0.974 0 12 1995 2019
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		disease 1.000 strong 0.867 0 2 2006 2017
Entrez Id: 7036
Gene Symbol: TFR2
TFR2 		transferrin receptor 2 0.585 0.615 1.3E-09
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		disease 1.000 None 1.000 0 15 2001 2019