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: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		disease 1.000 definitive 1.000 0 4 1964 2015
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		prion protein 0.445 0.923 6.3E-04
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 1.000 None 0.993 0 12 1989 2019
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG 		inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 0.493 0.769 8.5E-02
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		disease 1.000 None 0.987 0 4 1976 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease 1.000 None 1.000 0 1 1993 2017
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 2 1993 2019
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4 		solute carrier family 39 member 4 0.628 0.692 3.1E-04
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		disease 1.000 None 0.957 0 7 2002 2019
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		prion protein 0.445 0.923 6.3E-04
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		disease 1.000 None 0.989 0 1 1992 2019
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		forkhead box L2 0.542 0.692 0.88
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease 1.000 None 1.000 0 89 1995 2020
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		disease 1.000 None 0.974 0 12 1994 2018
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 1 2003 2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		disease 1.000 None 1.000 0 20 2001 2017
Entrez Id: 2719
Gene Symbol: GPC3
GPC3 		glypican 3 0.466 0.808 1.00
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		disease 1.000 definitive 0.956 0 10 1995 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease 1.000 None 0.953 0 8 1987 2020
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA 		CCAAT enhancer binding protein alpha 0.496 0.692 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 definitive 0.985 0 14 1992 2020
Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A 		protein phosphatase 1 regulatory subunit 3A 0.711 0.577 9.3E-16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 limited 0.929 0 0 1994 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		disease 1.000 strong 0.972 0 11 1994 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 1.000 None 1.000 0 4 2002 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0003076
Disease: Aniridia
Aniridia 		disease 1.000 None 0.984 0 14 1978 2020
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1 		UbiA prenyltransferase domain containing 1 0.700 0.462 2.0E-02
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		disease 1.000 strong 0.957 0 10 2007 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		disease 1.000 None 0.979 0 5 1993 2019
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 3 2002 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease 1.000 None 0.960 0 1 1996 2019
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY 		disease 1.000 limited 0.947 0 1 1999 2018
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 1.000 None 0.960 0 8 1990 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 strong 0.956 0 77 1992 2020