Source: ALL

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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria
disease 1.000 None 0.967 213 34 2003 2020
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
Polyglandular Type I Autoimmune Syndrome
disease 1.000 None 0.985 204 75 1991 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 0.985 197 16 1992 2020
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
disease 1.000 definitive 0.979 189 28 1962 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype 1.000 limited 0.995 189 20 1997 2020
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 0.984 188 24 1978 2020
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.539 0.615 1.00
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease 1.000 None 0.995 187 81 2001 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease 1.000 None 0.978 181 308 1997 2020
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
disease 1.000 strong 0.994 180 192 1988 2020
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease 1.000 definitive 0.967 180 122 1997 2020
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
disease 1.000 None 0.972 179 93 1976 2020
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0028754
Disease: Obesity
Obesity
disease 1.000 None 0.960 174 9 1997 2020
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 1.000 strong 0.983 173 60 1974 2020
Entrez Id: 3423
Gene Symbol: IDS
IDS
iduronate 2-sulfatase 0.559 0.769 0.95
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
disease 1.000 definitive 0.994 172 68 1991 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 1.000 definitive 0.994 170 109 1960 2020
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease 1.000 definitive 0.952 166 63 1993 2019
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
Limb-girdle muscular dystrophy type 2A
disease 1.000 strong 0.994 166 146 1995 2019
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease 1.000 None 0.982 165 314 1978 2020
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease 1.000 definitive 0.994 159 128 1994 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
disease 1.000 definitive 0.981 159 131 1985 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease 1.000 None 0.994 157 29 1998 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease 1.000 definitive 0.981 157 204 2004 2020
Entrez Id: 7454
Gene Symbol: WAS
WAS
WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
disease 1.000 definitive 0.987 156 30 1994 2020
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
Juvenile Neuronal Ceroid Lipofuscinosis
disease 1.000 None 0.994 156 72 1990 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1261473
Disease: Sarcoma
Sarcoma
group 1.000 strong 0.955 156 8 1987 2020