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: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease 1.000 definitive 1.000 4 0 2002 2018
Entrez Id: 3630
Gene Symbol: INS
INS 		insulin 0.445 0.923 0.30
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease 1.000 strong 0.955 4 0 1998 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease 1.000 strong 0.984 4 0 2001 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 0.983 4 0 2000 2020
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease 1.000 definitive 0.978 4 0 1993 2019
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		HESX homeobox 1 0.561 0.654 8.0E-04
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease 1.000 None 1.000 4 0 1998 2016
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 3 0 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 3 0 2002 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 3 0 1995 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		disease 1.000 strong 0.917 3 0 1991 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 3 0 2001 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 strong 0.957 3 0 1995 2015
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 1.000 limited 0.974 3 0 1999 2018
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 3 0 1983 2011
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 None 0.938 3 0 2006 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease 1.000 None 0.992 3 0 2001 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 3 0 2002 2019
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		T-box transcription factor 3 0.525 0.769 0.99
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		disease 1.000 None 1.000 3 0 1997 2020
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 3 0 1987 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease 1.000 strong 0.965 2 0 1992 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		disease 1.000 definitive 1.000 2 0 1998 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 2 0 2002 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 2 0 1964 2015
Entrez Id: 178
Gene Symbol: AGL
AGL 		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 1.000 None 0.988 2 0 1987 2020
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3 		solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		disease 1.000 strong 0.964 2 0 1996 2019