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: 443
Gene Symbol: ASPA
ASPA 		aspartoacylase 0.564 0.731 4.1E-04
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		disease 1.000 strong 0.967 38 47 1990 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease 1.000 strong 0.965 37 166 1992 2019
Entrez Id: 35
Gene Symbol: ACADS
ACADS 		acyl-CoA dehydrogenase short chain 0.663 0.538 2.8E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		disease 1.000 definitive 1.000 36 38 1989 2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		disease 1.000 None 1.000 35 41 1993 2019
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease 1.000 strong 0.989 35 29 1976 2020
Entrez Id: 846
Gene Symbol: CASR
CASR 		calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease 1.000 None 0.993 35 26 1976 2020
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease 1.000 definitive 0.977 34 48 1989 2019
Entrez Id: 2322
Gene Symbol: FLT3
FLT3 		fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 None 0.985 34 28 1992 2020
Entrez Id: 2645
Gene Symbol: GCK
GCK 		glucokinase 0.523 0.808 0.63
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		disease 1.000 strong 1.000 33 118 1992 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 1.000 definitive 0.951 33 40 1995 2020
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		disease 1.000 None 1.000 32 29 1993 2019
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		cystinosin, lysosomal cystine transporter 0.628 0.538 3.1E-04
CUI: C2931187
Disease: Nephropathic cystinosis
Nephropathic cystinosis 		disease 1.000 None 0.980 32 45 1998 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.985 32 14 1993 2019
Entrez Id: 435
Gene Symbol: ASL
ASL 		argininosuccinate lyase 0.593 0.731 8.6E-10
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		disease 1.000 definitive 1.000 32 54 1976 2019
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		disease 1.000 None 1.000 31 15 1992 2019
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 0.987 31 13 1993 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease 1.000 limited 0.981 30 56 1975 2019
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		disease 1.000 strong 1.000 29 106 1955 2018
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 1.000 29 19 1992 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 27 42 1955 2019
Entrez Id: 6445
Gene Symbol: SGCG
SGCG 		sarcoglycan gamma 0.621 0.615 4.8E-05
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		disease 1.000 strong 1.000 27 22 1995 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease 1.000 definitive 0.980 27 16 1994 2020
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 26 388 1980 2019
Entrez Id: 23209
Gene Symbol: MLC1
MLC1 		modulator of VRAC current 1 0.585 0.769 3.2E-08
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		disease 1.000 strong 0.963 25 35 2001 2019
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 1.000 None 1.000 25 19 1996 2017