Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C1832841
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 		0.300 GermlineCausalMutation ORPHANET δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138

2017
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		0.920 GermlineCausalMutation ORPHANET [Studies on the magneto-optical rotation of porphyrins, hemins and methemoglobin compounds]. 1189812

1975
Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		1.000 GermlineCausalMutation ORPHANET [Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history]. 23245869

2013
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		0.700 SusceptibilityMutation ORPHANET [MITF: a genetic key to melanoma and renal cell carcinoma?]. 22480646

2012
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.400 GermlineCausalMutation ORPHANET [Generalized seizures as onset of Gitelman's syndrome]. 19265611

2009
Entrez Id: 4549
Gene Symbol: RNR1
RNR1
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		0.500 GermlineCausalMutation ORPHANET [Gene therapy for human hearing loss: challenges and promises]. 24148127

2013
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		0.500 GermlineCausalMutation ORPHANET [Gene therapy for human hearing loss: challenges and promises]. 24148127

2013
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		0.520 ChromosomalRearrangement ORPHANET [Effect of carbamazepine on epilepsy with 1p36 deletion syndrome]. 17633087

2007
Entrez Id: 3492
Gene Symbol: IGH
IGH
CUI: C0555202
Disease: Malignant lymphoma - lymphocytic, intermediate differentiation
Malignant lymphoma - lymphocytic, intermediate differentiation 		0.300 SomaticCausalMutation ORPHANET [Detection and analysis of bcl-1/IgH rearrangement in mantle cell lymphoma] 12601901

2002
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.310 GermlineCausalMutation ORPHANET [CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea]. 21612679

2011
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		0.720 GermlineCausalMutation ORPHANET [Application of polarization fluorescence to the study on the effects of oxidative stress on wheat chloroplast]. 22512183

2012
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.620 GermlineCausalMutation ORPHANET [2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis. 17343269

2007
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.710 GermlineCausalMutation ORPHANET Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070

2003
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation ORPHANET Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. 15121780

2004
Entrez Id: 6674
Gene Symbol: SPAG1
SPAG1
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 GermlineCausalMutation ORPHANET Zebrafish morpholino studies of spag1 produced cilia-related phenotypes previously reported for PCD-causing mutations in genes encoding cytoplasmic proteins. 24055112

2013
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 GermlineCausalMutation ORPHANET ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. 23623388

2013
Entrez Id: 7528
Gene Symbol: YY1
YY1
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 GermlineCausalMutation ORPHANET YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. 28575647

2017