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: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
disease 0.910 None 1.000 1 0 2009 2018
Entrez Id: 253827
Gene Symbol: MSRB3
MSRB3
methionine sulfoxide reductase B3 0.729 0.308 3.8E-03
CUI: C2239351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 74
DEAFNESS, AUTOSOMAL RECESSIVE 74
disease 0.910 strong 1.000 1 0 2011 2014
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20
disease 0.910 moderate 1.000 1 0 1998 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease 0.910 None 1.000 1 0 2001 2019
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
glutamate metabotropic receptor 6 0.700 0.308 4.5E-17
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
disease 0.910 None 1.000 1 0 2005 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
Weill-Marchesani Syndrome, Autosomal Dominant
disease 0.910 None 1.000 1 0 1992 2014
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4
disease 0.910 None 1.000 1 0 1990 2018
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
Zic family member 3 0.587 0.423 0.92
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED
disease 0.910 None 1.000 1 0 1952 2014
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A
disease 0.910 None 1.000 1 0 2010 2018
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
dystroglycan 1 0.498 0.808 0.98
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
disease 0.910 None 1.000 1 0 2003 2019
Entrez Id: 3166
Gene Symbol: HMX1
HMX1
H6 family homeobox 1 0.729 0.346 0.73
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome
disease 0.910 None 1.000 1 0 1997 2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
disease 0.910 None 1.000 1 0 2006 2019
Entrez Id: 4128
Gene Symbol: MAOA
MAOA
monoamine oxidase A 0.465 0.769 1.00
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome
disease 0.910 None 1.000 1 0 1993 2016
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
matrilin 3 0.644 0.385 1.4E-08
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
disease 0.910 None 1.000 1 1 2001 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.910 None 1.000 1 0 1998 2016
Entrez Id: 286
Gene Symbol: ANK1
ANK1
ankyrin 1 0.540 0.885 1.00
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder)
disease 0.910 strong 1.000 1 0 1980 2011
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C3714873
Disease: Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 1
disease 0.910 None 1.000 1 0 1996 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
disease 0.910 None 1.000 1 0 1995 2018
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1
potassium inwardly rectifying channel subfamily J member 1 0.619 0.577 4.6E-05
Bartter syndrome, antenatal , type 2
disease 0.910 strong 1.000 1 0 1996 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5
disease 0.910 None 1.000 1 0 2006 2019
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
DNA cross-link repair 1C 0.544 0.808 2.5E-07
Severe combined immunodeficiency with sensitivity to ionizing radiation
disease 0.910 strong 1.000 1 0 2001 2015
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
disease 0.910 None 1.000 1 0 2000 2018
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder)
disease 0.910 None 1.000 1 0 2001 2019
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14
disease 0.910 None 1.000 1 0 1997 2010
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia
disease 0.910 strong 1.000 1 1 2001 2017