Source: HPO

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: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.400 strong 1.000 0 0 2014 2014
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2
aconitase 2 0.619 0.654 0.21
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
agrin 0.626 0.538 5.5E-07
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1
alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
aldehyde dehydrogenase 5 family member A1 0.619 0.462 3.1E-07
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 275
Gene Symbol: AMT
AMT
aminomethyltransferase 0.674 0.692 2.7E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX
aprataxin 0.590 0.500 4.0E-10
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
asparaginyl-tRNA synthetase 2, mitochondrial 0.650 0.577 7.1E-08
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10
ataxin 10 0.650 0.385 3.5E-04
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0