Source: CURATED

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: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0220744
Disease: Multiple gastrointestinal atresias (disorder)
Multiple gastrointestinal atresias (disorder) 		disease 0.300 moderate 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		disease 0.300 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 100033413
Gene Symbol: SNORD116-1
SNORD116-1 		small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome 		disease 0.300 None 0 0
Entrez Id: 100049159
Gene Symbol: SPG37
SPG37 		spastic paraplegia 37 (autosomal dominant) 1.000 0.077
CUI: C2936880
Disease: SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder) 		disease 0.300 None 0 0
Entrez Id: 100049707
Gene Symbol: SPG38
SPG38 		spastic paraplegia 38 (autosomal dominant, Silver syndrome) 0.890 0.115
CUI: C2676732
Disease: SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder) 		disease 0.300 None 0 0
Entrez Id: 1001
Gene Symbol: CDH3
CDH3 		cadherin 3 0.560 0.615 2.8E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 100144748
Gene Symbol: KLLN
KLLN 		killin, p53 regulated DNA replication inhibitor 0.578 0.654 5.1E-03
CUI: C3554517
Disease: COWDEN SYNDROME 4
COWDEN SYNDROME 4 		disease 0.500 limited 0 0
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 0.400 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.300 None 0 0
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C3489628
Disease: Thrombocytosis, Autosomal Dominant
Thrombocytosis, Autosomal Dominant 		disease 0.300 None 0 0
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease 0.400 None 0 2
Entrez Id: 100422910
Gene Symbol: MIR2861
MIR2861 		microRNA 2861 0.760 0.269
CUI: C3150680
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 		phenotype 0.400 None 0 1
Entrez Id: 10045
Gene Symbol: SH2D3A
SH2D3A 		SH2 domain containing 3A 0.760 0.423 3.6E-08
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.300 None 0 0
Entrez Id: 1008
Gene Symbol: CDH10
CDH10 		cadherin 10 0.760 0.385 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.300 None 0 0
Entrez Id: 10082
Gene Symbol: GPC6
GPC6 		glypican 6 0.626 0.654 0.14
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B 		disease 0.300 None 0 0
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.300 limited 0 0
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.300 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1 		MKRN3 antisense RNA 1 0.682 0.423
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome 		disease 0.300 None 0 0
Entrez Id: 10110
Gene Symbol: SGK2
SGK2 		serum/glucocorticoid regulated kinase 2 0.780 0.192 2.2E-12
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease 0.300 None 0 0
Entrez Id: 10126
Gene Symbol: DNAL4
DNAL4 		dynein axonemal light chain 4 0.780 0.231 2.8E-03
CUI: C4015124
Disease: MIRROR MOVEMENTS 3
MIRROR MOVEMENTS 3 		disease 0.400 None 0 1
Entrez Id: 10139
Gene Symbol: ARFRP1
ARFRP1 		ADP ribosylation factor related protein 1 0.729 0.500 0.14
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.300 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268555
Disease: Hyperlysinemia, Periodic
Hyperlysinemia, Periodic 		disease 0.300 None 0 0