Source: ALL

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: 92749
Gene Symbol: DRC1
DRC1
dynein regulatory complex subunit 1 0.641 0.654 8.3E-20
CUI: C3809087
Disease: CILIARY DYSKINESIA, PRIMARY, 21
CILIARY DYSKINESIA, PRIMARY, 21
disease 0.800 None 0 2
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
synuclein alpha 0.427 0.885 0.88
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)
disease 0.700 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
phenotype 0.600 moderate 0 1
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
disease 0.600 strong 0 31
Entrez Id: 345611
Gene Symbol: IRGM
IRGM
immunity related GTPase M 0.617 0.538
CUI: C2677079
Disease: Inflammatory Bowel Disease 19
Inflammatory Bowel Disease 19
disease 0.600 None 0 1
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
phenotype 0.600 strong 0 2
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
RAS related 2 0.656 0.500 0.97
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.600 None 0 1
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
tRNA 0.590 0.731
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
disease 0.600 None 0 1
Entrez Id: 6295
Gene Symbol: SAG
SAG
S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C3151061
Disease: RETINITIS PIGMENTOSA 47
RETINITIS PIGMENTOSA 47
disease 0.600 limited 0 1
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
calcium voltage-gated channel subunit alpha1 S 0.595 0.692 6.3E-12
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
disease 0.600 moderate 0 1
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
disease 0.600 limited 0 1
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1
cytochrome P450 family 24 subfamily A member 1 0.518 0.692 3.2E-23
CUI: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile
phenotype 0.600 strong 0 0
Entrez Id: 5358
Gene Symbol: PLS3
PLS3
plastin 3 0.656 0.500 0.99
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18
phenotype 0.600 strong 0 3
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C2931787
Disease: Intracardiac myxoma
Intracardiac myxoma
disease 0.600 strong 0 2
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
carbamoyl-phosphate synthase 1 0.590 0.615 1.1E-09
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
phenotype 0.600 limited 0 3
Entrez Id: 8438
Gene Symbol: RAD54L
RAD54L
RAD54 like 0.633 0.423 2.4E-15
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
disease 0.600 None 0 1
Entrez Id: 25788
Gene Symbol: RAD54B
RAD54B
RAD54 homolog B 0.659 0.462 8.1E-13
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
disease 0.600 None 0 1
Entrez Id: 643226
Gene Symbol: GRXCR2
GRXCR2
glutaredoxin and cysteine rich domain containing 2 0.861 0.115 1.0E-07
CUI: C3892049
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 101
DEAFNESS, AUTOSOMAL RECESSIVE 101
disease 0.600 None 0 1
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
HNF1 homeobox A 0.478 0.846 0.96
CUI: C1840646
Disease: Hepatic Adenomas, Familial
Hepatic Adenomas, Familial
disease 0.600 strong 0 4
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1
cysteine rich with EGF like domains 1 0.670 0.269 1.3E-11
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
disease 0.600 None 0 1
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C1835923
Disease: Retinitis Pigmentosa 31
Retinitis Pigmentosa 31
disease 0.600 None 0 2
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
metabolism of cobalamin associated D 0.751 0.385 2.1E-05
Homocystinuria, CblD Type, Variant 1
disease 0.600 None 0 3
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
disease 0.600 strong 0 3
Entrez Id: 23092
Gene Symbol: ARHGAP26
ARHGAP26
Rho GTPase activating protein 26 0.656 0.500 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease 0.600 limited 0 1
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
disease 0.600 limited 0 1