Source: CLINVAR

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: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 7 3 2007 2015
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		disease 0.710 definitive 1.000 2 4 1982 2019
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C4283745
Disease: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 		disease 0.100 None 0 1
Entrez Id: 2531
Gene Symbol: KDSR
KDSR 		3-ketodihydrosphingosine reductase 0.674 0.538 0.12
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		disease 0.600 None 1.000 0 4 2017 2017
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1 		3-oxoacid CoA-transferase 1 0.686 0.423 4.7E-03
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		disease 0.700 None 1.000 1 7 1998 2019
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		3-oxoacyl-ACP synthase, mitochondrial 0.861 0.115 2.5E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 6 1 2001 2017
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		3-oxoacyl-ACP synthase, mitochondrial 0.861 0.115 2.5E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 6 1 2001 2017
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		disease 0.700 None 1.000 4 12 1998 2019
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.400 None 1.000 1 4 1999 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 1.000 1 4 2010 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 1.000 1 4 2010 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		phenotype 0.100 None 1.000 1 4 2010 2010
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1 		4-hydroxy-2-oxoglutarate aldolase 1 0.792 0.192 1.6E-14
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		disease 0.780 None 1.000 13 37 2010 2019
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease 0.940 moderate 1.000 0 5 1972 2012
Entrez Id: 3242
Gene Symbol: HPD
HPD 		4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		disease 0.730 None 1.000 0 2 2000 2016
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		disease 0.500 None 1.000 0 1 1992 2017
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C2677889
Disease: Protoporphyria, Erythropoietic, X-Linked Dominant
Protoporphyria, Erythropoietic, X-Linked Dominant 		disease 0.600 strong 1.000 0 4 1999 2018
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia 		disease 0.800 strong 1.000 0 15 1992 2019
Entrez Id: 221294
Gene Symbol: NT5DC1
NT5DC1 		5'-nucleotidase domain containing 1 0.792 0.269 5.1E-07
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		disease 0.100 None 0 15
Entrez Id: 4907
Gene Symbol: NT5E
NT5E 		5'-nucleotidase ecto 0.436 0.885 2.3E-11
CUI: C1859372
Disease: Calcification of Joints and Arteries
Calcification of Joints and Arteries 		disease 0.730 None 1.000 0 3 2011 2016
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2 		5'-nucleotidase, cytosolic II 0.537 0.846 2.1E-06
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		disease 0.710 None 1.000 1 7 2009 2017
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A 		5'-nucleotidase, cytosolic IIIA 0.593 0.692 1.5E-02
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		disease 0.700 None 1.000 0 9 2001 2016
Entrez Id: 471
Gene Symbol: ATIC
ATIC 		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		disease 0.700 strong 1.000 0 1 2004 2004
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A 		5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
CUI: C3553418
Disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT 		disease 0.600 limited 0 1
Entrez Id: 4548
Gene Symbol: MTR
MTR 		5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		disease 0.700 None 1.000 1 7 1996 2017