Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. 6243664

1980
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. 7004677

1980
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. 7424976

1980
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mannosidosis: two brothers with different degrees of disease severity. 7307317

1981
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mannosidosis: two brothers with different degrees of disease severity. 7307317

1981
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937

1984
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The Coffin-Siris syndrome: report of a family and further delineation. 6499251

1984
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Carpenter syndrome: natural history and clinical spectrum. 3993675

1985
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. 4056805

1985
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A lethal autosomal recessive syndrome of multiple congenital contractures. 3993672

1985
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR The cure of childhood cancers. 3719536

1986
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
Entrez Id: 8452
Gene Symbol: CUL3
CUL3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. 3002982

1986
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The effect of ABO blood group on the diagnosis of von Willebrand disease. 3495304

1987
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Organization of the human pro-alpha 2(I) collagen gene. 2824475

1987
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Differential localization of calmodulin-dependent enzymes in rat brain: evidence for selective expression of cyclic nucleotide phosphodiesterase in specific neurons. 3029762

1987
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. 3322002

1987
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 3067577

1988
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Glycogen storage disease type II in Israel. 3132435

1988
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2. 2838409

1988