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1
DateGeneTraitstorylink
2
4-Nov-2019ABCG5
Disorders of gallbladder, biliary tract and pancreas
cholesterol transporter heterodimer. Transports sterols into bile acid
https://twitter.com/Eric_Fauman/status/1191385073733586944
3
4-Nov-2019ABCG8
Disorders of gallbladder, biliary tract and pancreas
cholesterol transporter heterodimer. Transports sterols into bile acid
https://twitter.com/Eric_Fauman/status/1191385073733586944
4
18-Oct-2018ABOBlood clot in the leg, DVT
blood type is a risk factor for blood clots
https://twitter.com/Eric_Fauman/status/1053082911879127040
5
14-Jul-2019ADAMTS10
Nerve, nerve root and plexus disorders
ADAMTS10 encodes a extracellular matrix metaloprotease which plays a role in the maturation of microfibril arrays which may contribute to structures in the carpal tunnel of the wrist driving risk of carpal tunnel syndrome, the most common plexus disorder
https://twitter.com/Eric_Fauman/status/1150395746442776576
6
14-Jul-2019ADAMTS17
Nerve, nerve root and plexus disorders
ADAMTS17 encodes a extracellular matrix metaloprotease. By analogy with ADAMTS10, ADAMTS17 may also play a role in the maturation of microfibril arrays which may contribute to structures in the carpal tunnel of the wrist driving risk of carpal tunnel syndrome, the most common plexus disorder
https://twitter.com/Eric_Fauman/status/1150396902388711424
7
21-Nov-2018ADH1Baverage weekly red wine intake
alcohol metabolism
https://twitter.com/Eric_Fauman/status/1065157302867636225
8
4-May-2019ADH1Balcohol consumption
encodes alcohol dehydrogenase, regulating clearance rate for alcohol
https://twitter.com/Eric_Fauman/status/1124773384053776384
9
11-Jan-2019ADORA2Acoffee intake
response to caffeine
https://twitter.com/Eric_Fauman/status/1083815408455565313
10
9-Nov-2019AFF3hand-grip strength
hand/limb specific transcription factor
https://twitter.com/Eric_Fauman/status/1193221698226728961
11
11-Jan-2019AHRcoffee intake
regulation of caffeine metabolism
https://twitter.com/Eric_Fauman/status/1083815408455565313
12
8-Apr-2019AHRcoffee intake
regulation of caffeine metabolism
https://twitter.com/Eric_Fauman/status/1115355368673218560
13
6-Mar-2019ALDH1L1metabolite: glycine
ALDH1L1 encodes an enzyme involved in the folate cycle
https://twitter.com/Eric_Fauman/status/1103309246744223747
14
21-Oct-2018ALPLcalculus of kidney and ureterphosphatasehttps://twitter.com/Eric_Fauman/status/1054113276819369986
15
2-Mar-2019APOEmargarine intake
APOE drives LDL-cholesterol levels, perhaps leading to a dietary choice to switch from butter to margarine
https://twitter.com/Eric_Fauman/status/1101829330966073345
16
14-Mar-2019APOEtreatment: statin use
APOE involved in lipoprotein regulation
https://twitter.com/Eric_Fauman/status/1106287127233552384
17
12-May-2019ARhair.balding pattern 4
AR encodes the androgen receptor, important for regulation of hair follicles
https://twitter.com/Eric_Fauman/status/1127764580502069249
18
11-Oct-2018ARSAmetabolite: O-sulfo-tyrosine
ARSA encodes the enzyme arylsulfatase A
https://twitter.com/Eric_Fauman/status/1050455798877437953
19
28-Sep-2018ASIP
Skin changes due to chronic exposure to nonionizing radiation
MC1R antagonist
https://twitter.com/Eric_Fauman/status/1054187824210239489
20
24-Jul-2019ASIPskin color
MC1R antagonist
https://twitter.com/Eric_Fauman/status/1154187167771570176
21
5-Jul-2019BMP2leg predicted mass (right)
bone morphogenic protein, growth factor influencing bone growth
https://twitter.com/Eric_Fauman/status/1147342716029874176
22
5-Dec-2018BMP5arthrosis of hip
bone morphogenic protein, involved in ossification
https://twitter.com/Eric_Fauman/status/1070406843124629504
23
5-Jul-2019BMP6leg predicted mass (right)
bone morphogenic protein, growth factor influencing bone growth
https://twitter.com/Eric_Fauman/status/1147342716029874176
24
17-Mar-2019BNC2melanocytic naevi
BNC2 encodes a transcription factor involved in skin pigmentation
https://twitter.com/Eric_Fauman/status/1107451369064001536
25
9-Nov-2019CASQ1hand-grip strength
CASQ1 encodes calsequestrin involved in calcium cycling during muscle contraction
https://twitter.com/Eric_Fauman/status/1193222466308657155
26
3-Jun-2019CDKN2Atreatment with nicorandil
locus associated with increased risk of heart disease
https://twitter.com/Eric_Fauman/status/1140089207215611906
27
3-Jun-2019CDKN2Btreatment with nicorandil
locus associated with increased risk of heart disease
https://twitter.com/Eric_Fauman/status/1140089207215611906
28
17-Nov-2018CHRM3treatment: ranitidine
CHRM3 encodes the cholinergic receptor muscarinic 3 with highest expression in the esophagus and the gastroesophageal junction and is responsible for gastric acid secretion
https://twitter.com/Eric_Fauman/status/1063910856843509760
29
5-Dec-2018CHST3arthrosis of hip
carbohydrate sulfotransferase acting on chondroitin
https://twitter.com/Eric_Fauman/status/1070406843124629504
30
21-Oct-2018CLDN14calculus of kidney and ureter
a kidney-specific protein inivolved in calcium reabsorption
https://twitter.com/Eric_Fauman/status/1054113276819369986
31
5-Dec-2018COL11A1arthrosis of hip
collagen gene, involved in ossification
https://twitter.com/Eric_Fauman/status/1070406843124629504
32
5-Dec-2018COLGALT2arthrosis of hip
collagen galactosyltransferase
https://twitter.com/Eric_Fauman/status/1070406843124629504
33
11-Oct-2018COMTmetabolite: methylascorbic acid
metabolite is a product of the encoded enzyme
https://twitter.com/Eric_Fauman/status/1050444127664558080
34
6-Mar-2019CPS1metabolite: glycine
CPS1 encodes an enzyme acting on the breakdown products of glycine catabolism
https://twitter.com/Eric_Fauman/status/1103309246744223747
35
3-Aug-2019CPS1
metabolite: multiple incl glycine, serine, homocysteine, urea
CPS1 encodes an enzyme acting on the breakdown products of glycine catabolism which indirectly impacts multiple metabolites
https://twitter.com/Eric_Fauman/status/1157708156463718400
36
4-Nov-2018CRPCRP levels
gene for the measured protein
https://twitter.com/Eric_Fauman/status/1059097534508007424
37
2-Feb-2019CTLA4malignant neoplasms of skin
immune checkpoint gene
https://twitter.com/Eric_Fauman/status/1091804848742416385
38
11-Jan-2019CYP1A1coffee intake
caffeine metabolism
https://twitter.com/Eric_Fauman/status/1083815408455565313
39
8-Apr-2019CYP1A1coffee intake
caffeine metabolism
https://twitter.com/Eric_Fauman/status/1115355368673218560
40
8-Apr-2019CYP1A2coffee intake
caffeine metabolism
https://twitter.com/Eric_Fauman/status/1115355368673218560
41
7-Jul-2019DPYS
metabolites: 3-ureidoisobutyrate and 3-ureidoproprionate
DPYS encodes the enzyme which produces the two metabolites from dihydrouracil and dihydrothymine
https://twitter.com/Eric_Fauman/status/1147845156546207744
42
21-April-2019DRD2schizophrenia
DRD2 encodes a dopamine receptor which is the site of action for many antipsychotics
https://twitter.com/Eric_Fauman/status/1119984545519083520
43
12-May-2019EBF1hair.balding pattern 4
EBF1 contributes to hair growth through regulation of adipocyte maturation in the skin
https://twitter.com/Eric_Fauman/status/1127770335082876928
44
14-Jul-2019EFEMP1
Nerve, nerve root and plexus disorders
EFEMP1 encodes fibulin-3, an extracellular matrix protein with a role in elastic fiber production which could directly contribute to the properties of the carpal ligament or other structures in the carpal tunnel
https://twitter.com/Eric_Fauman/status/1150398769357316098
45
27-Jul-2019ENOSF1metabolite:ribonate
ENOSF1 encodes an enzyme that takes ribonate as a substrate
https://twitter.com/Eric_Fauman/status/1155122331737612288
46
01-Nov-2019ENPEPmetabolite: aspartate
ENPEP encodes an aminopeptidase that release aspartate from angiotensin II
https://twitter.com/Eric_Fauman/status/1190465066707116032
47
18-Oct-2018F11Blood clot in the leg, DVT
Factor XI, a protease in the clotting cascade
https://twitter.com/Eric_Fauman/status/1053083315362775041
48
18-Oct-2018F2Blood clot in the leg, DVT
encodes thrombin, the final step in the clotting cascade, converting fibrinogen to fibrin
https://twitter.com/Eric_Fauman/status/1053084182015078400
49
18-Oct-2018F5Blood clot in the leg, DVT
Factor V Leiden mutation
https://twitter.com/Eric_Fauman/status/1053082006777745414
50
10-Aug-2019FADS1Arachidonic acid
FADS1 and FADS2 are both in the direct pathway leading to arachidonic acid production
https://twitter.com/Eric_Fauman/status/1160178127383027712
51
10-Aug-2019FADS2Arachidonic acid
FADS1 and FADS2 are both in the direct pathway leading to arachidonic acid production
https://twitter.com/Eric_Fauman/status/1160178127383027712
52
6-Dec-2018FAM210Awrist fracture
regulator of bone structure and function
https://twitter.com/Eric_Fauman/status/1070784042298195968
53
19-Jan-2019FAT3retinal detachment
AT3 is an atypical cadherin in brain, important for neurite outgrowth and establishment of polarity in the retina.
https://twitter.com/Eric_Fauman/status/1086712250470154240
54
18-Oct-2018FGA,FGB,FGGBlood clot in the leg, DVTfibrin locushttps://twitter.com/Eric_Fauman/status/1053084616125505537
55
27-Nov-2018FGF21sodium in urine
FGF21 encodes a growth factor that acts on the brain to increase reward associated with eating sugar
https://twitter.com/Eric_Fauman/status/1067522336897867776
56
23-Mar-2019FGF21processed meat intake
FGF21 encodes a growth factor that acts on the brain to increase reward associated with eating sugar
https://twitter.com/Eric_Fauman/status/1109538343984029697
57
3-Nov-2019FGF5hair balding pattern 3
hair specific growth factor
https://twitter.com/Eric_Fauman/status/1191006299611381760
58
3-Dec-2018FGF7non-toxic goitre
growth factor involved in thyroid gland development and thyroid hormone production
https://twitter.com/Eric_Fauman/status/1069711602897821697
59
3-Dec-2018FOXA2non-toxic goitre
transcription factor important for thyroid endoderm development
https://twitter.com/Eric_Fauman/status/1069711602897821697
60
3-Dec-2018FOXE1non-toxic goitre
transcription factor exclusively expressed in thyroid, involved in thyroid development
https://twitter.com/Eric_Fauman/status/1069711602897821697
61
14-Dec-2019FOXE33 mm strong meridian (left)
FOXE3 is a TF essential for lens development
https://twitter.com/Eric_Fauman/status/1205915460811853824
62
21-Nov-2018FTO (locus)average weekly red wine intake
overall food intake
https://twitter.com/Eric_Fauman/status/1065158171638095872
63
28-Dec-2018FTO (locus)Leg fat percentage (right)
strongest BMI signal in the genome. Likely due to action of neighboring genes IRX3 and/or IRX5
https://twitter.com/Eric_Fauman/status/1078736001735053312
64
18-Jun-2019FUT2
bring up phlegm/sputum/mucus on most days
FUT2 encodes a fucosyltransferase, responsible for the glycosylation portion of mucus
https://twitter.com/Eric_Fauman/status/1141133218168659968
65
22-Nov-2018GALNTL6scar conditions and fibrosis of skin
GALNTL6 encodes polypeptide N-acetylgalactosaminyltransferase like 6 which is involved in O-glycosylation of mucins. Mucins, operating in the extra-cellular space, is increased in scar tissue
https://twitter.com/Eric_Fauman/status/1065696852576780294
66
21-Jul-2019GATA1platelet crit
One nifty analysis in Enrichr is finding upstream transcription factors that are enriched for the implicated genes. The top 3 TFs are GATA1 (upstream of 75 GWAS genes), GATA2 (67 genes) and RUNX1 (91 genes). *All 3 of these TFs are themselves GWAS hits!*https://
https://twitter.com/Eric_Fauman/status/1153103194588946432
67
21-Jul-2019GATA2platelet crit
One nifty analysis in Enrichr is finding upstream transcription factors that are enriched for the implicated genes. The top 3 TFs are GATA1 (upstream of 75 GWAS genes), GATA2 (67 genes) and RUNX1 (91 genes). *All 3 of these TFs are themselves GWAS hits!*https://
https://twitter.com/Eric_Fauman/status/1153103194588946432
68
19-Apr-2019GCmetabolite: vitamin D
GC encodes the vitamin D binding protein
https://twitter.com/Eric_Fauman/status/1119358461291192322
69
6-Mar-2019GCSHmetabolite: glycine
GCSH encodes a component of the glycine cleavage system
https://twitter.com/Eric_Fauman/status/1103309246744223747
70
5-Jul-2019GDF5leg predicted mass (right)
GDF5 encodes a growth factor involved in limb and joint development
https://twitter.com/Eric_Fauman/status/1147342716029874176
71
9-Nov-2019GDF5hand-grip strength
GDF5 encodes a growth factor involved in limb and joint development
https://twitter.com/Eric_Fauman/status/1193220589277863939
72
6-Mar-2019GLDCmetabolite: glycine
GLDC encodes an enzyme involved glycine catabolism
https://twitter.com/Eric_Fauman/status/1103309246744223747
73
21-April-2019GRIA1schizophrenia
Glutamate receptor involved in synaptic transmissions
https://twitter.com/Eric_Fauman/status/1119981145247092738
74
17-Feb-2019GRM5worry too long
GRM5 encodes a glutamate metabotropic receptor
https://twitter.com/Eric_Fauman/status/1097250512842444801
75
17-Feb-2019GRM8worry too long
GRM8 encodes a glutamate metabotropic receptor
https://twitter.com/Eric_Fauman/status/1097250512842444801
76
12-May-2019GSCmale balding pattern
GSC, Goosecoid Homeobox, an important regulator of pattern formation and Wnt signaling
https://twitter.com/Eric_Fauman/status/1127750561632333824
77
23-Feb-2019HAND1trabeculae in the heart
HAND1 encodes a heart-specific transcription factor involved in organogenesis
https://twitter.com/Eric_Fauman/status/1099344336406364160
78
29-Mar-2019HFEhemochromatosis
HFE encodes the hemochromatosis
https://twitter.com/Eric_Fauman/status/1111737332623949824
79
22-Dec-2018HLA regiontreatment: prednisolone
The HLA region encodes several proteins that play key roles in the immune system
https://twitter.com/Eric_Fauman/status/1076561813532299265
80
14-Mar-2019HMGCRtreatment: statin use
HMGCR encodes an enzyme in the cholesterol biosynthetic pathway
https://twitter.com/Eric_Fauman/status/1106287127233552384
81
14-May-2019IL12Bpsoriatic arthropathy
cytokine involved in immune response
https://twitter.com/Eric_Fauman/status/1128253674461986817
82
17-Mar-2019IRF4melanocytic naevi
IRF4 encodes a transcription factor involved in skin pigmentation
https://twitter.com/Eric_Fauman/status/1107451369064001536
83
23-Mar-2019LCTmilk intake
LCT encodes lactase, necessary for break down of lactose
https://twitter.com/Eric_Fauman/status/1109532755971448833
84
14-Mar-2019LDLRtreatment: statin use
LDLR is involved in lipoprotein regulation
https://twitter.com/Eric_Fauman/status/1106287127233552384
85
6-Dec-2018LEPRwrist fracture
important function in bone marrow cells in the regenerative response of bone and cartilage after injulry
https://twitter.com/Eric_Fauman/status/1070784042298195968
86
5-Dec-2018LMX1Barthrosis of hip
transcription factor involved in limb development
https://twitter.com/Eric_Fauman/status/1070406843124629504
87
28-Sep-2018MC1R
Skin changes due to chronic exposure to nonionizing radiation
melanin production switch
https://twitter.com/Eric_Fauman/status/1054187824210239489
88
18-Dec-2018MC1Rred hair
melanin production switch
https://twitter.com/Eric_Fauman/status/1075084429259956225
89
2-Feb-2019MC1Rmalignant neoplasms of skin
pigmentation gene
https://twitter.com/Eric_Fauman/status/1091803251689865216
90
26-May-2019MC1Rrecurrence of cancer
MC1R regulates pigmentation which will contribute to risk of melanoma.
https://twitter.com/Eric_Fauman/status/1132809674267471874
91
24-Jul-2019MC1Rskin color
melanin production switch
https://twitter.com/Eric_Fauman/status/1154187167771570176
92
9-Nov-2019MC1ROther malignant neoplasms of skin
pigmentation gene
https://twitter.com/Eric_Fauman/status/1191910393800744960
93
19-May-2019MC4Rarm fat mass (right)
MC4R is a well-known BMI gene. It influences feeding behavior.
https://twitter.com/Eric_Fauman/status/1130255434110181376
94
3-Dec-2019MGPhand-grip strength
MGP is involved in bone calcification and causes the rare disease Keutel Syndrome which, among other features, causes shortening of the distal phalanges of the hand.
https://twitter.com/Eric_Fauman/status/1201934978684260352
95
15-Nov-2019MMP14bone mineral density
MMP14 cleaves RANKL to create soluble RANKL to activate osteoblasts
https://twitter.com/Eric_Fauman/status/1195747155107074049
96
13-May-2019MTHFRmetabolite: folate
enzyme involved in folate metabolism
https://twitter.com/Eric_Fauman/status/1127897987978600448
97
18-Jun-2019MUC5AC
bring up phlegm/sputum/mucus on most days
MUC5AC encodes one of the principal mucins in lung. This is the protein portion of mucus.
https://twitter.com/Eric_Fauman/status/1141128327144640512
98
2-Feb-2019OCA2malignant neoplasms of skin
pigmentation gene
https://twitter.com/Eric_Fauman/status/1091803251689865216
99
24-Jul-2019OCA2skin color
tyrosine transporter
https://twitter.com/Eric_Fauman/status/1154187167771570176
100
9-Apr-2019OR10G3dried fruit intake
OR10G3 probably encodes an olfactory receptor. Could it relate to enjoyment from smelling and eating fruit?
https://twitter.com/Eric_Fauman/status/1115711040438853633
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