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: 242
Gene Symbol: ALOX12B
ALOX12B 		arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.750 limited 0.889 4 0 2003 2013
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.700 limited 1.000 4 0 2003 2020
Entrez Id: 5078
Gene Symbol: PAX4
PAX4 		paired box 4 0.644 0.423 4.2E-04
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.660 limited 0.857 4 0 1999 2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1 		cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		disease 0.800 limited 1.000 3 0 1998 2019
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2 		potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		disease 0.740 limited 1.000 3 0 2006 2013
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: 57654
Gene Symbol: UVSSA
UVSSA 		UV stimulated scaffold protein A 0.805 0.269 5.4E-25
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		disease 0.660 limited 1.000 3 0 2012 2019
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		collagen type XII alpha 1 chain 0.615 0.692 0.97
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		disease 0.610 limited 1.000 2 0 2014 2018
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		disease 0.800 limited 0.972 2 0 1999 2017
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease 0.630 limited 1.000 2 0 2005 2016
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		disease 0.500 limited 1.000 2 0 2005 2016
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli 		disease 0.500 limited 1.000 2 0 2005 2016
Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1 		epoxide hydrolase 1 0.500 0.846 3.2E-09
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		disease 0.600 limited 1.000 2 0 2003 2015
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 2 0 2000 2018
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C2678439
Disease: CRANIOOSTEOARTHROPATHY
CRANIOOSTEOARTHROPATHY 		disease 0.710 limited 1.000 2 0 2008 2015
Entrez Id: 348938
Gene Symbol: NIPAL4
NIPAL4 		NIPA like domain containing 4 0.682 0.423 1.4E-03
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.680 limited 1.000 2 0 2010 2020
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C3279840
Disease: Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency 		disease 0.700 limited 1.000 2 0 2000 2016
Entrez Id: 55065
Gene Symbol: SLC52A1
SLC52A1 		solute carrier family 52 member 1 0.526 0.769 3.5E-06
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency 		disease 0.610 limited 1.000 2 0 2007 2017
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		disease 0.750 limited 1.000 2 0 1997 2016
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.800 limited 1.000 2 0 2003 2018
Entrez Id: 6789
Gene Symbol: STK4
STK4 		serine/threonine kinase 4 0.638 0.462 1.5E-02
CUI: C3553943
Disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS 		disease 0.730 limited 1.000 2 0 2012 2018
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		transforming growth factor beta 3 0.498 0.808 0.99
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.700 limited 1.000 2 0 2006 2015
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 1.000 limited 1.000 2 0 1994 2019
Entrez Id: 727897
Gene Symbol: MUC5B
MUC5B 		mucin 5B, oligomeric mucus/gel-forming 0.532 0.808 1.00
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease 0.700 limited 0.952 2 0 2011 2019
Entrez Id: 811
Gene Symbol: CALR
CALR 		calreticulin 0.413 0.923 0.89
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 0.800 limited 0.929 2 0 2013 2020