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: 2628
Gene Symbol: GATM
GATM
glycine amidinotransferase 0.666 0.615 5.1E-02
Arginine:Glycine Amidinotransferase Deficiency
disease 0.760 definitive 1.000 6 0 1940 2018
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
Guanidinoacetate methyltransferase deficiency
disease 0.940 definitive 1.000 4 0 1940 2017
Entrez Id: 383
Gene Symbol: ARG1
ARG1
arginase 1 0.476 0.846 3.6E-04
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia
phenotype 1.000 definitive 1.000 23 2 1944 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
disease 0.500 None 0.971 78 7 1947 2019
Entrez Id: 4143
Gene Symbol: MAT1A
MAT1A
methionine adenosyltransferase 1A 0.582 0.577 8.1E-04
Hepatic methionine adenosyltransferase deficiency
disease 0.780 definitive 1.000 8 1 1951 2019
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
Zic family member 3 0.587 0.423 0.92
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
disease 0.520 strong 0.889 2 0 1952 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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 None 0.982 417 9 1953 2020
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 1.000 87 5 1953 2019
Entrez Id: 2937
Gene Symbol: GSS
GSS
glutathione synthetase 0.626 0.731 1.8E-06
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency
disease 0.740 definitive 0.944 4 0 1953 2019
Entrez Id: 3081
Gene Symbol: HGD
HGD
homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
disease 1.000 definitive 0.982 39 4 1955 2019
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
Muscular dystrophy congenital, merosin negative
disease 1.000 strong 1.000 21 0 1955 2018
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 1.000 definitive 0.990 29 0 1956 2020
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder)
disease 0.700 definitive 0.974 21 2 1956 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease 0.800 None 0.994 142 2 1957 2020
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency
disease 0.720 None 1.000 2 0 1957 2016
Entrez Id: 54
Gene Symbol: ACP5
ACP5
acid phosphatase 5, tartrate resistant 0.561 0.731 7.9E-02
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
disease 0.720 None 1.000 2 0 1958 2018
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine beta-synthase 0.465 0.885 3.1E-05
Cystathionine beta-Synthase Deficiency Disease
disease 0.800 definitive 1.000 30 10 1959 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 0.994 142 5 1960 2020
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
aldehyde dehydrogenase 4 family member A1 0.792 0.231 1.4E-05
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2
disease 0.730 moderate 1.000 3 0 1960 2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.800 strong 0.994 189 4 1961 2019
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 0.979 158 1 1962 2019
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia
disease 1.000 None 0.968 27 1 1962 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
disease 1.000 None 1.000 17 0 1962 2017
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
twist family bHLH transcription factor 2 0.518 0.731 0.56
Congenital ectodermal dysplasia of face
disease 0.770 None 1.000 7 2 1963 2016