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: 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: 10682
Gene Symbol: EBP
EBP
EBP cholestenol delta-isomerase 0.494 0.846 0.94
Chondrodysplasia punctata, X-linked dominant type
disease 1.000 strong 1.000 0 38 1983 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: 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: 114548
Gene Symbol: NLRP3
NLRP3
NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
disease 1.000 None 1.000 0 4 2002 2019
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
C1q and TNF related 5 0.663 0.346 0.84
LATE-ONSET RETINAL DEGENERATION (disorder)
disease 1.000 None 1.000 0 1 2003 2019
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: 129563
Gene Symbol: DIS3L2
DIS3L2
DIS3 like 3'-5' exoribonuclease 2 0.647 0.500 0.94
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
disease 1.000 definitive 1.000 0 5 1999 2019
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: 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: 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: 1643
Gene Symbol: DDB2
DDB2
damage specific DNA binding protein 2 0.576 0.654 7.4E-06
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
disease 1.000 definitive 0.850 0 4 1996 2016
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
disease 1.000 None 0.991 0 14 1999 2019
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease 1.000 strong 1.000 0 58 1994 2019
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: 1947
Gene Symbol: EFNB1
EFNB1
ephrin B1 0.561 0.769 0.93
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia
disease 1.000 None 0.958 0 18 2004 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: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B
disease 1.000 definitive 1.000 0 8 1990 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: 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: 23230
Gene Symbol: VPS13A
VPS13A
vacuolar protein sorting 13 homolog A 0.650 0.577 9.3E-22
CUI: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome
disease 1.000 None 1.000 0 2 2001 2019
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: 2625
Gene Symbol: GATA3
GATA3
GATA binding protein 3 0.415 0.846 0.90
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome
disease 1.000 definitive 0.957 0 8 1995 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: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
disease 1.000 definitive 0.956 0 10 1995 2019