Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 GeneticVariation UNIPROT Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 30481304

2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 GeneticVariation UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668

2019
Entrez Id: 55503
Gene Symbol: TRPV6
TRPV6
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		0.610 GeneticVariation UNIPROT We present a case of TNHP caused by <i>TRPV6</i> gene mutations. 30820485

2019
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.610 GeneticVariation UNIPROT Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans. 30728324

2019
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 GeneticVariation UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668

2019
Entrez Id: 2530
Gene Symbol: FUT8
FUT8
CUI: C4693905
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 		0.610 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.610 GeneticVariation UNIPROT Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. 30578106

2019
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
CUI: C1852453
Disease: Cryptophthalmos, Unilateral or Bilateral, Isolated
Cryptophthalmos, Unilateral or Bilateral, Isolated 		0.600 GeneticVariation UNIPROT Loss-of-function mutations in FREM2 disrupt eye morphogenesis. 30802441

2019
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		0.600 GeneticVariation UNIPROT Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285

2019
Entrez Id: 84529
Gene Symbol: C15orf41
C15orf41
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 GeneticVariation UNIPROT Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 31191338

2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 GeneticVariation UNIPROT Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 30481304

2019
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease: IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27A 		0.600 GeneticVariation UNIPROT Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease. 27868075

2019
Entrez Id: 50628
Gene Symbol: GEMIN4
GEMIN4
CUI: C4693567
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES 		0.600 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		0.600 GeneticVariation UNIPROT De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. 30166628

2019
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		0.600 GeneticVariation UNIPROT Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 26870663

2019
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		0.600 GeneticVariation UNIPROT A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 29463886

2019
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.600 GeneticVariation UNIPROT Variants in DOCK3 cause developmental delay and hypotonia. 30976111

2019
Entrez Id: 23279
Gene Symbol: NUP160
NUP160
CUI: C4748552
Disease: NEPHROTIC SYNDROME, TYPE 19
NEPHROTIC SYNDROME, TYPE 19 		0.500 GeneticVariation UNIPROT Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome. 30910934

2019
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
CUI: C4748684
Disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC 		0.500 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 166929
Gene Symbol: SGMS2
SGMS2
CUI: C1852022
Disease: Doughnut Lesions of Skull, Familial
Doughnut Lesions of Skull, Familial 		0.400 GeneticVariation UNIPROT Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. 30779713

2019
Entrez Id: 197257
Gene Symbol: LDHD
LDHD
CUI: C1855552
Disease: Lactic Aciduria due to D-Lactic Acid
Lactic Aciduria due to D-Lactic Acid 		0.400 GeneticVariation UNIPROT Identification of human D lactate dehydrogenase deficiency. 30931947

2019
Entrez Id: 6862
Gene Symbol: TBXT
TBXT
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.400 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 341208
Gene Symbol: HEPHL1
HEPHL1
CUI: C1849811
Disease: Pili torti developmental delay neurological abnormalities
Pili torti developmental delay neurological abnormalities 		0.300 GeneticVariation UNIPROT Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 31125343

2019
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation UNIPROT The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients. 28703881

2018