Accepted |
Type |
Usage
|
Yes |
type of chemical entity (Q113145171) |
13669
|
Yes |
molecular function (Q14860489) |
1777
|
Yes |
group of stereoisomers (Q59199015) |
1499
|
Yes |
rare disease (Q929833) |
1269
|
Yes |
disease (Q12136) |
783
|
Yes |
developmental defect during embryogenesis (Q55788864) |
469
|
Yes |
designated intractable/rare disease (Q42303753) |
259
|
Yes |
syndrome (Q179630) |
257
|
Yes |
autosomal recessive disease (Q10267817) |
233
|
Yes |
genetic disease (Q200779) |
224
|
Yes |
autosomal dominant disease (Q18553439) |
187
|
Yes |
infectious disease (Q18123741) |
183
|
Yes |
medication (Q12140) |
160
|
Yes |
structural class of chemical entities (Q47154513) |
142
|
Yes |
Chinese herbology (Q261503) |
141
|
Yes |
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (Q14864141) |
138
|
Yes |
crude drug (Q735160) |
127
|
Yes |
kampo herb (Q27684991) |
126
|
Yes |
head and neck disease (Q55789477) |
75
|
Yes |
viral infectious disease (Q1928978) |
74
|
Yes |
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (Q14864431) |
74
|
Yes |
genetic syndromic intellectual disability (Q55785866) |
71
|
Yes |
hydro-lyase activity (Q21132909) |
68
|
Yes |
rare genetic developmental defect during embryogenesis (Q55785846) |
64
|
Yes |
kinase activity (Q14863082) |
64
|
Yes |
carboxy-lyase activity (Q14859874) |
58
|
Yes |
S-adenosylmethionine-dependent methyltransferase activity (Q14880762) |
57
|
Yes |
multiple congenital anomalies/dysmorphic syndrome-intellectual disability (Q55785288) |
55
|
Yes |
monoclonal antibody (Q422248) |
53
|
Yes |
mixture (Q169336) |
53
|
Yes |
phosphotransferase activity, alcohol group as acceptor (Q14863083) |
53
|
Yes |
skin disease (Q949302) |
49
|
Yes |
group of chemical entities (Q55640599) |
47
|
Yes |
neurometabolic disease (Q1337418) |
46
|
Yes |
nervous system heredodegenerative disease (Q19001236) |
45
|
Yes |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides (Q21097209) |
45
|
Yes |
X-linked recessive disease (Q55010090) |
43
|
Yes |
transaminase activity (Q14903610) |
42
|
Yes |
osteochondrodysplasia (Q3251367) |
42
|
Yes |
hereditary disorder (Q3311537) |
38
|
Yes |
primary bacterial infectious disease (Q18553247) |
36
|
Yes |
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (Q14599285) |
36
|
Yes |
carboxylic ester hydrolase activity (Q21096272) |
34
|
Yes |
syndromic genetic deafness (Q55788734) |
32
|
Yes |
multiple congenital anomalies/dysmorphic syndrome without intellectual disability (Q55785290) |
31
|
Yes |
X-linked intellectual disability (Q8041560) |
31
|
Yes |
developmental anomaly of metabolic origin (Q55785399) |
30
|
Yes |
amino acid metabolic disorder (Q18558086) |
30
|
Yes |
polysaccharide (Q134219) |
30
|
Yes |
parasitic helminthiasis infectious disease (Q578994) |
29
|
Yes |
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (Q14907416) |
29
|
Yes |
chemical element (Q11344) |
28
|
Yes |
syndromic developmental defect of the eye (Q55785336) |
27
|
Yes |
inherited metabolic disorder (Q1758393) |
26
|
Yes |
transferase activity, transferring alkyl or aryl (other than methyl) groups (Q21117494) |
26
|
Yes |
essential medicine (Q35456) |
26
|
Yes |
group of isomeric entities (Q15711994) |
25
|
Yes |
UDP-glucosyltransferase activity (Q21173799) |
25
|
Yes |
protein (Q8054) |
25
|
Yes |
congenital disorder (Q727096) |
25
|
Yes |
zoonosis (Q182672) |
25
|
Yes |
lung disease (Q3392853) |
24
|
Yes |
phosphatase activity (Q14878380) |
24
|
Yes |
bacterial infectious disease (Q727028) |
23
|
Yes |
eye degenerative disease (Q18558225) |
23
|
Yes |
carbon-oxygen lyase activity, acting on phosphates (Q22324383) |
23
|
Yes |
rare genetic epilepsy (Q55785842) |
22
|
Yes |
acid-thiol ligase activity (Q21106351) |
22
|
Yes |
eye disease (Q3041498) |
22
|
Yes |
immune disorder (Q3843811) |
21
|
Yes |
combination drug (Q1779868) |
21
|
Yes |
acyltransferase activity, transferring groups other than amino-acyl groups (Q14912987) |
21
|
Yes |
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (Q55785289) |
21
|
Yes |
encephalopathy (Q576349) |
20
|
Yes |
notifiable disease (Q314676) |
20
|
Yes |
polymer (Q81163) |
20
|
Yes |
hereditary retinal dystrophy (Q18557955) |
20
|
Yes |
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor (Q22319792) |
20
|
No |
Aminoacyl-tRNA (Q209022) |
20
|
Yes |
cephalosporin antibiotic (Q271021) |
20
|
Yes |
monogenic disease (Q1225194) |
20
|
Yes |
ectodermal dysplasia (Q1323713) |
19
|
Yes |
polymalformative genetic syndrome with increased risk of developing cancer (Q55785832) |
19
|
Yes |
intestinal disease (Q3055380) |
19
|
Yes |
muscular disease (Q692536) |
18
|
Yes |
aldehyde-lyase activity (Q21199025) |
18
|
Yes |
chromosomal deletion syndrome (Q16918398) |
18
|
Yes |
mitochondrial disease (Q935710) |
18
|
Yes |
CoA-ligase activity (Q22323831) |
18
|
Yes |
lipid metabolism disorder (Q1476525) |
17
|
Yes |
overgrowth syndrome (Q7113674) |
17
|
Yes |
intramolecular oxidoreductase activity, interconverting aldoses and ketoses (Q22323986) |
16
|
Yes |
neglected tropical disease (Q929451) |
16
|
Yes |
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (Q14911783) |
16
|
Yes |
oxo-acid-lyase activity (Q21763212) |
16
|
Yes |
autosomal genetic disease (Q18553442) |
15
|
Yes |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (Q21114555) |
15
|
Yes |
syndromic renal or urinary tract malformation (Q55788832) |
15
|
Yes |
kidney disease (Q1054718) |
15
|
Yes |
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (Q14358843) |
15
|
Yes |
genetic nervous system disorder (Q55788492) |
15
|
Yes |
O-acetyltransferase activity (Q22323590) |
15
|
Yes |
glycogen storage disease (Q1421738) |
15
|
Yes |
syndromic dyslipidemia (Q55785804) |
14
|
Yes |
rare genetic respiratory disease (Q55785522) |
14
|
Yes |
sulfotransferase activity (Q21102365) |
14
|
Yes |
acyltransferase, acyl groups converted into alkyl on transfer (Q21138248) |
14
|
Yes |
malformation syndrome with odontal and/or periodontal component (Q55785406) |
14
|
Yes |
orofacial clefting syndrome (Q55785405) |
14
|
Yes |
syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy (Q55787048) |
14
|
Yes |
inherited blood coagulation disease (Q18555031) |
14
|
Yes |
spinal disease (Q7577457) |
14
|
Yes |
syndromic anorectal malformation (Q55785353) |
14
|
Yes |
oxidoreductase activity, acting on CH-OH group of donors (Q14599646) |
13
|
Yes |
oxidoreductase activity, acting on the CH-OH group of donors, oxygen as acceptor (Q22318220) |
13
|
Yes |
neurodegeneration (Q1755122) |
13
|
Yes |
lysosomal storage disease (Q675010) |
13
|
Yes |
acid-amino acid ligase activity (Q14864258) |
13
|
Yes |
autoimmune disease (Q8084905) |
13
|
Yes |
X-linked dominant disease (Q55010089) |
13
|
Yes |
malformation syndrome with short stature (Q55785400) |
13
|
Yes |
2-oxoglutarate-dependent dioxygenase activity (Q21104883) |
13
|
Yes |
deacetylase activity (Q21107314) |
13
|
Yes |
N-acetyltransferase activity (Q14908263) |
13
|
Yes |
non-steroidal anti-inflammatory drug (Q188724) |
13
|
Yes |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (Q21171767) |
12
|
Yes |
malformation syndrome with skin/mucosae involvement (Q55785402) |
12
|
Yes |
syndromic intellectual disability (Q18553536) |
12
|
Yes |
monooxygenase activity (Q14358814) |
12
|
Yes |
endemic disease (Q506680) |
12
|
Yes |
N-methyltransferase activity (Q21131276) |
12
|
Yes |
spondyloepimetaphyseal dysplasia (Q18966185) |
12
|
Yes |
benzodiazepine drug (Q83871) |
12
|
Yes |
lysosomal storage disease with skeletal involvement (Q55788818) |
12
|
Yes |
palmoplantar keratosis (Q7128426) |
12
|
Yes |
arbovirosis (Q2859732) |
12
|
Yes |
liver disease (Q929737) |
12
|
Yes |
carbohydrate metabolic disorder (Q6013981) |
12
|
Yes |
hypertrophic cardiomyopathy (Q1364270) |
12
|
Yes |
parasitic protozoa infectious disease (Q353172) |
11
|
Yes |
dysostosis (Q1269307) |
11
|
Yes |
metabolic disease (Q2351083) |
11
|
No |
chemical compound (Q11173) |
11
|
Yes |
rare dyslipidemia (Q55785266) |
11
|
Yes |
carbon-sulfur lyase activity (Q21132592) |
11
|
Yes |
traditional Chinese medical formula (Q6791480) |
11
|
Yes |
syndrome with combined immunodeficiency (Q55787698) |
11
|
Yes |
secondary glomerular disease (Q55788835) |
11
|
Yes |
connective tissue disease (Q1779300) |
10
|
Yes |
primary immunodeficiency disease (Q3043160) |
10
|
Yes |
syndrome with limb reduction defects (Q55787046) |
10
|
Yes |
oxidoreductase activity, acting on the CH-NH group of donors, oxygen as acceptor (Q22319826) |
10
|
Yes |
inherited tumor (Q1117773) |
10
|
Yes |
muscular dystrophy (Q1137767) |
10
|
Yes |
metabolic disease with intestinal involvement (Q55785312) |
10
|
Yes |
herbal medicinal product (Q95997873) |
10
|
Yes |
blood coagulation disease (Q890200) |
10
|
Yes |
ligase activity, forming carbon-nitrogen bonds (Q21199130) |
10
|
Yes |
bone development disease (Q18553737) |
10
|
Yes |
pyrophosphatase activity (Q417355) |
10
|
No |
chemical substance (Q79529) |
10
|
Yes |
nephropathy secondary to a storage or other metabolic disease (Q55788855) |
10
|
Yes |
metal metabolism disorder (Q3281373) |
10
|
Yes |
rare skin disease (Q55788696) |
10
|
Yes |
X-linked disease (Q18553438) |
10
|
Yes |
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of one atom of oxygen (internal monooxygenases or internal mixed function oxidases) (Q22316905) |
10
|
Yes |
unclassified primitive or secondary maculopathy (Q55789241) |
10
|
Yes |
dysostosis of genetic origin with limb anomaly as a major feature (Q55788097) |
10
|
Yes |
intramolecular lyase activity (Q21978494) |
9
|
Yes |
prenyltransferase activity (Q21110678) |
9
|
Yes |
classic organic aciduria (Q55788539) |
9
|
Yes |
amino-acid racemase activity (Q22324107) |
9
|
Yes |
leukodystrophy (Q1821559) |
9
|
Yes |
syndromic obesity (Q55786310) |
9
|
Yes |
rare metabolic liver disease (Q55785261) |
9
|
Yes |
syndromic neurometabolic disease with X-linked intellectual disability (Q55785814) |
9
|
Yes |
genetic skin vascular disorder (Q55785835) |
9
|
Yes |
recombinant protein (Q50209538) |
9
|
Yes |
renal tubular transport disease (Q6013986) |
9
|
Yes |
rare syndrome with cardiac malformations (Q55785518) |
9
|
Yes |
CoA-transferase activity (Q21142315) |
9
|
Yes |
Ehlers-Danlos syndrome (Q1141499) |
9
|
Yes |
blood platelet disease (Q2429620) |
9
|
Yes |
congenital disorder of amino acid metabolism (Q3281372) |
9
|
Yes |
fundus dystrophy (Q5811451) |
9
|
Yes |
peripheral neuropathy (Q945238) |
9
|
Yes |
congenital muscular dystrophy (Q1321884) |
9
|
Yes |
racemase and epimerase activity, acting on carbohydrates and derivatives (Q21103132) |
9
|
Yes |
congenital heart disease (Q939364) |
9
|
Yes |
mosquito-borne disease (Q6916469) |
9
|
Yes |
vitreoretinal degeneration (Q55346101) |
9
|
Yes |
rare genetic immune disease (Q55785867) |
9
|
Yes |
CoA hydrolase activity (Q22320539) |
8
|
Yes |
mucopolysaccharidosis (Q1479681) |
8
|
Yes |
phosphotransferase activity, carboxyl group as acceptor (Q22321146) |
8
|
Yes |
syndrome associated with hypertrophic cardiomyopathy (Q55786146) |
8
|
Yes |
protein fragment (Q78782478) |
8
|
Yes |
sphingolipidosis (Q2309612) |
8
|
Yes |
flavivirus infectious disease (Q19001421) |
8
|
Yes |
metabolic disease with cataract (Q55789275) |
8
|
Yes |
rare genetic endocrine disease (Q55785525) |
8
|
Yes |
phosphotransferase activity, for other substituted phosphate groups (Q21102534) |
8
|
Yes |
infectious disease with epilepsy (Q55785635) |
8
|
Yes |
intramolecular oxidoreductase activity (Q21113221) |
8
|
Yes |
ichthyosis (Q523893) |
8
|
Yes |
carbohydrate kinase activity (Q21121417) |
8
|
Yes |
phosphoric diester hydrolase activity (Q14865583) |
8
|
Yes |
genetic cardiac disease (Q55789068) |
8
|
Yes |
phosphotransferase activity, nitrogenous group as acceptor (Q21199198) |
8
|
Yes |
penicillin (Q12190) |
8
|
Yes |
autoimmune disease of musculoskeletal system (Q18553609) |
8
|
Yes |
biological pathway (Q4915012) |
8
|
Yes |
intramolecular oxidoreductase activity, transposing C=C bonds (Q22324006) |
8
|
No |
primary metabolite (Q3333419) |
8
|
Yes |
ptosis (Q622427) |
8
|
Yes |
muscular glycogenosis (Q55785945) |
8
|
Yes |
autoinflammatory syndrome with skin involvement (Q55787013) |
8
|
Yes |
pentosyltransferase activity (Q14916506) |
8
|
Yes |
deaminase activity (Q14864789) |
7
|
Yes |
glucan (Q416796) |
7
|
Yes |
cis-trans isomerase activity (Q22324081) |
7
|
Yes |
adenylyltransferase activity (Q22321438) |
7
|
Yes |
cyclase activity (Q22323812) |
7
|
Yes |
hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances (Q22320562) |
7
|
Yes |
rare hemorrhagic disorder due to a constitutional coagulation factors defect (Q55788455) |
7
|
Yes |
sulfuric ester hydrolase activity (Q14905431) |
7
|
Yes |
peroxisomal disease (Q3281322) |
7
|
Yes |
severe combined immunodeficiency (Q1334408) |
7
|
Yes |
opportunistic mycosis (Q18555090) |
7
|
Yes |
carcinoma (Q33525) |
7
|
Yes |
syndromic craniosynostosis (Q55785407) |
7
|
Yes |
viral encephalitis (Q3053951) |
7
|
Yes |
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of two atoms of oxygen into one donor (Q21758903) |
7
|
Yes |
primary bone dysplasia with decreased bone density (Q55788815) |
7
|
Yes |
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (Q21418900) |
7
|
Yes |
bone disease (Q4941552) |
7
|
Yes |
retinal disease (Q550455) |
7
|
Yes |
mitochondrial disease with epilepsy (Q55786197) |
7
|
Yes |
nervous system malformations (Q584265) |
7
|
Yes |
viral hemorrhagic fever (Q162272) |
7
|
Yes |
syndromic cataract (Q55789221) |
7
|
Yes |
motor neuron disease (Q3221083) |
7
|
Yes |
nucleoside-triphosphate diphosphatase activity (Q21110155) |
7
|
Yes |
UDP-galactosyltransferase activity (Q21108271) |
7
|
Yes |
skin infection (Q2458539) |
7
|
Yes |
nematode infection (Q2072680) |
7
|
Yes |
genetic hypertension (Q55785524) |
7
|
Yes |
cyanotic heart defect (Q2186829) |
7
|
Yes |
mitochondrial disease with peripheral neuropathy (Q55786198) |
7
|
Yes |
tick-borne disease (Q184243) |
7
|
Yes |
biopolymer (Q422649) |
7
|
Yes |
pigmentation disorder (Q7193408) |
7
|
Yes |
oxidoreductase activity, acting on the CH-CH group of donors, oxygen as acceptor (Q22318228) |
7
|
Yes |
biological process (Q2996394) |
7
|
Yes |
biopharmaceutical (Q679692) |
7
|
Yes |
anthroponotic disease (Q1049711) |
7
|
Yes |
rickets (Q183392) |
7
|
Yes |
type 2 collagen-related bone disorder (Q55788797) |
7
|
Yes |
intramolecular transferase activity, transferring amino groups (Q22315646) |
7
|
Yes |
organic acidemia (Q1547640) |
7
|
Yes |
neurodevelopmental disorder (Q3450985) |
7
|
Yes |
autoimmune connective tissue disorder (Q2208472) |
7
|
Yes |
Vinyl polymer (Q1812439) |
7
|
Yes |
fungal infectious disease (Q464067) |
7
|
Yes |
channelopathy (Q2936142) |
6
|
Yes |
atypical pneumonia (Q2633267) |
6
|
Yes |
syndactyly (Q1360044) |
6
|
Yes |
autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature (Q55787268) |
6
|
Yes |
craniosynostosis (Q378183) |
6
|
Yes |
mitochondrial myopathy (Q6881881) |
6
|
Yes |
neurological disorder (Q3339235) |
6
|
Yes |
ammonia-lyase activity (Q14914013) |
6
|
Yes |
commensal bacterial infectious disease (Q18553248) |
6
|
Yes |
primary systemic mycosis (Q18553244) |
6
|
Yes |
genetic systemic or rheumatologic disease (Q55786852) |
6
|
Yes |
sesquiterpene synthase activity (Q22324414) |
6
|
Yes |
syndrome with microcephaly as major feature (Q55786834) |
6
|
Yes |
syndromic glaucoma (Q55789219) |
6
|
Yes |
genetic vascular anomaly (Q55786073) |
6
|
Yes |
nonmetal (Q19600) |
6
|
Yes |
malformation syndrome (Q1401195) |
6
|
Yes |
chromosomal disease (Q4501577) |
6
|
Yes |
Bunyaviridae infectious disease (Q18967528) |
6
|
Yes |
Spondylodysplastic dysplasia (Q55788806) |
6
|
Yes |
heart conduction disease (Q1361515) |
6
|
Yes |
hereditary neoplastic syndromes (Q1348398) |
6
|
Yes |
racemate (Q467717) |
6
|
Yes |
gastrointestinal system cancer (Q5526839) |
6
|
Yes |
amino acid transport disorder (Q471778) |
6
|
Yes |
alphavirus infections (Q4735280) |
6
|
Yes |
rare genetic gynecological and obstetrical diseases (Q55785863) |
6
|
Yes |
familial hypophosphatemia (Q18975841) |
6
|
Yes |
progeroid syndrome (Q6139748) |
6
|
Yes |
autosomal recessive cerebellar ataxia (Q4826996) |
6
|
Yes |
vascular disease (Q1266890) |
6
|
Yes |
lymphoma (Q208414) |
6
|
Yes |
inherited renal tubular disease (Q55785848) |
6
|
Yes |
rare genetic bone disease (Q55785844) |
6
|
Yes |
dysostosis with predominant vertebral and costal involvement (Q55788823) |
6
|
Yes |
genetic epidermal disorder (Q55785833) |
6
|
Yes |
congenital myopathy (Q112412) |
6
|
Yes |
hydrolase activity, hydrolyzing N-glycosyl compounds (Q21120016) |
6
|
Yes |
hemolytic anemia (Q1145668) |
6
|
Yes |
metal (Q11426) |
6
|
Yes |
Enterobacteriaceae infectious disease (Q18975069) |
6
|
No |
metabolite (Q407595) |
6
|
Yes |
genetic cardiac rhythm disease (Q55785258) |
6
|
Yes |
O-methyltransferase activity (Q14863649) |
6
|
Yes |
oxidoreductase activity, acting on the CH-CH group of donors (Q14864972) |
6
|
Yes |
S-methyltransferase activity (Q22323020) |
6
|
Yes |
intramolecular transferase activity (Q14865753) |
6
|
Yes |
guanylyltransferase activity (Q22321413) |
6
|
Yes |
oligosaccharidosis (Q55788568) |
6
|
Yes |
beta-glucosidase activity (Q14874297) |
6
|
Yes |
infectious disease of the nervous system (Q10336461) |
6
|
Yes |
metabolic disease with corneal opacity (Q55789274) |
6
|
Yes |
hydrolase activity, hydrolyzing O-glycosyl compounds (Q14874306) |
6
|
Yes |
tubulopathy (Q1048573) |
6
|
Yes |
collagen disease (Q1446169) |
6
|
Yes |
corneal disease (Q10526382) |
6
|
Yes |
mitochondrial disease with eye involvement (Q55789259) |
6
|
Yes |
lysosomal disease with hypertrophic cardiomyopathy (Q55786143) |
6
|
Yes |
genetic peripheral neuropathy (Q55789138) |
5
|
Yes |
genetic alopecia (Q55789468) |
5
|
Yes |
rare eye disease due to a differentiation anomaly (Q55789154) |
5
|
Yes |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (Q21104855) |
5
|
Yes |
transition metal (Q19588) |
5
|
Yes |
primary bone dysplasia with increased bone density (Q55788814) |
5
|
Yes |
Noonan syndrome and Noonan-related syndrome (Q55789288) |
5
|
Yes |
constitutional neutropenia with extra-hematopoietic manifestations (Q55787695) |
5
|
Yes |
sphingolipidosis with epilepsy (Q55787921) |
5
|
Yes |
syndromic myopia (Q55789206) |
5
|
Yes |
arenavirus hemorrhagic fever (Q19001357) |
5
|
Yes |
metabolic disease with pigmentary retinitis (Q55789276) |
5
|
Yes |
arthritis (Q170990) |
5
|
Yes |
waterborne disease (Q2006636) |
5
|
Yes |
movement disorders (Q2608695) |
5
|
Yes |
viral hepatitis (Q1983841) |
5
|
No |
group or class of chemical substances (Q17339814) |
5
|
Yes |
hematopoietic system disease (Q1963588) |
5
|
Yes |
oxidoreductase activity, acting on the aldehyde or oxo group of donors, oxygen as acceptor (Q22316323) |
5
|
Yes |
acid-ammonia (or amide) ligase activity (Q22323905) |
5
|
Yes |
vitamin metabolic disorder (Q18553423) |
5
|
Yes |
autoimmune disease of peripheral nervous system (Q18553610) |
5
|
Yes |
intrinsic cardiomyopathy (Q18553611) |
5
|
Yes |
sterol biosynthesis disorder (Q55788560) |
5
|
Yes |
cytidylyltransferase activity (Q22321428) |
5
|
Yes |
aminoglycoside phosphotransferase activity (Q22321258) |
5
|
Yes |
amino acid kinase activity (Q22321225) |
5
|
Yes |
amine-lyase activity (Q22324345) |
5
|
Yes |
phosphotransferase activity, phosphate group as acceptor (Q22321163) |
5
|
Yes |
hyperpigmentation of the skin (Q55788594) |
5
|
Yes |
other dermis disorder (Q55788600) |
5
|
Yes |
terpene synthase activity (Q22324405) |
5
|
Yes |
syndromic lymphedema (Q55788697) |
5
|
Yes |
limonene monooxygenase activity (Q22317624) |
5
|
Yes |
vascular skin disease (Q18558156) |
5
|
Yes |
other genetic dermis disorder (Q55788349) |
5
|
Yes |
oxidoreductase activity, acting on X-H and Y-H to form an X-Y bond, with oxygen as acceptor (Q22315976) |
5
|
Yes |
endocrine gland cancer (Q18554878) |
5
|
Yes |
dermatitis (Q229256) |
5
|
Yes |
acromelic dysplasia (Q55788807) |
5
|
Yes |
gentamycin (Q72296281) |
5
|
Yes |
oxidoreductase activity, acting on other nitrogenous compounds as donors, with NAD or NADP as acceptor (Q21772100) |
5
|
Yes |
primary bone dysplasia with multiple joint dislocations (Q55788812) |
5
|
Yes |
modified acyl-carrier protein (Q61774737) |
5
|
Yes |
syndrome with brachydactyly (Q55788468) |
5
|
Yes |
acrocephalosyndactylia (Q1786496) |
5
|
Yes |
epithelial and subepithelial dystrophy (Q21154080) |
5
|
Yes |
intramolecular transferase activity, phosphotransferases (Q21120438) |
5
|
Yes |
leukocyte disease (Q18558143) |
5
|
Yes |
rare genetic diabetes mellitus (Q55785854) |
5
|
Yes |
syndromic urogenital tract malformation (Q55785600) |
5
|
Yes |
oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor (Q14878282) |
5
|
Yes |
pyruvate decarboxylase deficiency (Q7263801) |
5
|
Yes |
entheogen (Q310491) |
5
|
Yes |
cerebral malformation with epilepsy (Q55785630) |
5
|
Yes |
hereditary stomatocytosis (Q3973817) |
5
|
Yes |
anxiety disorder (Q544006) |
5
|
Yes |
filariasis (Q815753) |
5
|
Yes |
syndromic hypothyroidism (Q55785710) |
5
|
Yes |
ectoparasitism (Q5334259) |
5
|
Yes |
distal muscular dystrophy (Q5282843) |
5
|
Yes |
cerebral degeneration (Q1620193) |
5
|
Yes |
rare genetic adrenal disease (Q55785858) |
5
|
Yes |
respiratory disease (Q3286546) |
5
|
Yes |
urea cycle disorder (Q1585743) |
5
|
Yes |
organic polymer (Q99600509) |
5
|
Yes |
autosomal recessive (Q15729064) |
5
|
Yes |
thrombophilia (Q1570013) |
5
|
Yes |
autoinflammatory syndrome with immune deficiency (Q55787012) |
5
|
Yes |
maculopathy (Q3842207) |
5
|
Yes |
autoimmune skin disease (Q12504769) |
5
|
Yes |
cerebellar ataxia (Q154709) |
5
|
Yes |
genetic movement disorder (Q55785843) |
5
|
Yes |
Poxviridae infectious disease (Q12353899) |
5
|
Yes |
lipid storage disease (Q3540902) |
5
|
Yes |
genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature (Q55786837) |
5
|
Yes |
organic brain syndrome (Q360341) |
5
|
Yes |
sexually transmitted infection (Q12198) |
5
|
Yes |
geonosis (Q1503299) |
5
|
Yes |
antibiotic (Q12187) |
5
|
Yes |
mitochondrial disease with dilated cardiomyopathy (Q55786150) |
5
|
Yes |
genetic neurodegenerative disease with dementia (Q55346116) |
5
|
Yes |
carboxyl- or carbamoyltransferase activity (Q14859895) |
5
|
Yes |
aminoacyl-tRNA ligase activity (Q14861870) |
5
|
Yes |
branchial arch or oral-acral syndrome (Q55785404) |
5
|
Yes |
glycosaminoglycan (Q407553) |
5
|
Yes |
Escherichia coli infectious disease (Q4227886) |
5
|
Yes |
autosomal recessive metabolic cerebellar ataxia (Q55346092) |
5
|
Yes |
mitochondrial disease with hypertrophic cardiomyopathy (Q55786144) |
5
|
Yes |
neurodegeneration with brain iron accumulation (Q16892735) |
5
|
Yes |
syndrome or malformation associated with head and neck malformations (Q55785513) |
5
|
Yes |
hypophosphatemic rickets (Q54945704) |
5
|
Yes |
genetic pancreatic disease (Q55785598) |
5
|
Yes |
rare genetic intestinal disease (Q55785596) |
5
|
Yes |
urinary system disease (Q7900883) |
5
|
Yes |
nucleotidyltransferase activity (Q14865136) |
5
|
Yes |
metabolic neurotransmission anomaly with epilepsy (Q55786199) |
5
|
Yes |
skin tumor or hamartoma (Q55788604) |
4
|
Yes |
diabetes (Q12206) |
4
|
Yes |
hospital-acquired infection (Q215509) |
4
|
Yes |
neuronal ceroid lipofuscinosis (Q4358039) |
4
|
Yes |
genetic photodermatosis (Q55785838) |
4
|
Yes |
primary osteolysis (Q55788819) |
4
|
Yes |
primary bone dysplasia with disorganized development of skeletal components (Q55788820) |
4
|
Yes |
syndrome associated with dilated cardiomyopathy (Q55786153) |
4
|
Yes |
cestodosis (Q4505372) |
4
|
Yes |
sugar-phosphatase activity (Q22320313) |
4
|
Yes |
subcutaneous tissue disease (Q55788601) |
4
|
Yes |
hereditary poikiloderma (Q55786182) |
4
|
Yes |
synostosis (Q2141048) |
4
|
Yes |
osteosclerosis (Q1233526) |
4
|
Yes |
glomerulonephritis (Q605006) |
4
|
Yes |
acromesomelic dysplasia (Q18553752) |
4
|
Yes |
growth hormone insensitivity syndrome (Q47455810) |
4
|
Yes |
systemic inflammatory disease associated with an acquired peripheral neuropathy (Q55785994) |
4
|
Yes |
filamin-related bone disorder (Q55788802) |
4
|
Yes |
aminoglycoside antibiotic (Q45355603) |
4
|
Yes |
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen (Q22317778) |
4
|
Yes |
adrenal gland disease (Q4684717) |
4
|
Yes |
mycobacterium infectious disease (Q4293079) |
4
|
Yes |
amyloidosis (Q816798) |
4
|
Yes |
vasculitis (Q644318) |
4
|
Yes |
rRNA (guanine-N2-)-methyltransferase activity (Q21762541) |
4
|
Yes |
coccidiosis (Q487837) |
4
|
Yes |
functional neutrophil defect (Q55785861) |
4
|
Yes |
oxidoreductase activity, acting on the CH-CH group of donors, quinone or related compound as acceptor (Q22319257) |
4
|
Yes |
neonatal osteosclerotic dysplasia (Q55788813) |
4
|
Yes |
meningitis (Q48143) |
4
|
Yes |
familial hyperlipidemia (Q18554145) |
4
|
Yes |
saccharopine dehydrogenase activity (Q22319819) |
4
|
Yes |
autoimmune disease of cardiovascular system (Q4826340) |
4
|
Yes |
B-cell lymphoma (Q4833719) |
4
|
Yes |
congenital ichthyosis (Q18968097) |
4
|
Yes |
nonsyndromic deafness (Q9079046) |
4
|
Yes |
chromosomal anomaly with epilepsy as a major feature (Q55785627) |
4
|
Yes |
pulmonary hypertension (Q1128595) |
4
|
Yes |
rare abdominal surgical disease (Q55785601) |
4
|
Yes |
metabolic disease with dementia (Q55789148) |
4
|
Yes |
artery disease (Q18965518) |
4
|
Yes |
cortical hyperostosis (Q9292374) |
4
|
Yes |
genetic biliary tract disease (Q55785521) |
4
|
Yes |
hyperlipidemia (Q1079120) |
4
|
Yes |
iron overload (Q2025687) |
4
|
Yes |
megalencephaly (Q10748814) |
4
|
Yes |
polyatomic nonmetal (Q19753345) |
4
|
Yes |
autosomal recessive cerebellar ataxia due to a DNA repair defect (Q55346093) |
4
|
Yes |
oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (Q21106420) |
4
|
Yes |
gram-negative bacterial infection (Q19597369) |
4
|
Yes |
post-transition metal (Q19591) |
4
|
Yes |
acute viral respiratory tract infection (Q55790495) |
4
|
Yes |
mucolipidosis (Q1952032) |
4
|
Yes |
rare developmental defect with connective tissue involvement (Q55785403) |
4
|
Yes |
leukoderma (Q1047860) |
4
|
Yes |
statin (Q954845) |
4
|
Yes |
syndromic diaphragmatic or abdominal wall malformation (Q55785334) |
4
|
Yes |
congenital intestinal disease due to an enzymatic defect (Q55785308) |
4
|
Yes |
copper metabolism disease (Q19001238) |
4
|
Yes |
RASopathy (Q1029344) |
4
|
Yes |
primary glomerular disease (Q55785293) |
4
|
Yes |
streptococcal infection (Q5849703) |
4
|
Yes |
myotonic disease (Q18556352) |
4
|
Yes |
neoplasm (Q1216998) |
4
|
Yes |
aplastic anemia (Q846316) |
4
|
Yes |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (Q21198655) |
4
|
Yes |
central nervous system disease (Q5062122) |
4
|
Yes |
rare rheumatologic disease (Q55785828) |
4
|
Yes |
stromal dystrophy (Q21154082) |
4
|
Yes |
epithelial-stromal TGFBI dystrophy (Q21154081) |
4
|
Yes |
childhood cancer (Q5097977) |
4
|
Yes |
chronic leukemia (Q5113979) |
4
|
Yes |
combined immunodeficiency (Q5150906) |
4
|
Yes |
complement deficiency (Q5156409) |
4
|
Yes |
oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor (Q21123000) |
4
|
Yes |
carbon-carbon lyase activity (Q21199326) |
4
|
Yes |
antituberculous drug (Q584144) |
4
|
Yes |
syndromic neurometabolic disease with non-X-linked intellectual disability (Q55785813) |
4
|
Yes |
muscle tissue disease (Q18557307) |
4
|
Yes |
malformation syndrome with hamartosis (Q55789095) |
4
|
Yes |
syndrome with hypoparathyroidism (Q55785800) |
4
|
Yes |
other rare diabetes mellitus (Q55785796) |
4
|
Yes |
genetic lipodystrophy (Q55789109) |
4
|
Yes |
nonepidermolytic palmoplantar keratoderma (Q5275419) |
4
|
Yes |
autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature (Q55789116) |
4
|
Yes |
DNA repair defect other than combined T-cell and B-cell immunodeficiencies (Q55785655) |
4
|
Yes |
Fatty-acid metabolism disorder (Q5437988) |
4
|
No |
class of chemical entities with similar applications or functions (Q56256173) |
4
|
Yes |
infancy electroclinical syndrome (Q18553413) |
4
|
Yes |
oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (Q14878274) |
4
|
Yes |
Insulin/IGF/Relaxin family (Q24766924) |
4
|
Yes |
O-hydroxycinnamoyltransferase activity (Q22323554) |
4
|
Yes |
primordial dwarfism (Q2289761) |
4
|
Yes |
spondyloepiphyseal dysplasia with congenital joint dislocations (Q18553493) |
4
|
Yes |
Huntington's disease-like syndrome (Q24977062) |
4
|
Yes |
macular degeneration (Q27429789) |
4
|
Yes |
connective tissue neoplasm (Q3542012) |
4
|
Yes |
mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (Q55786430) |
4
|
Yes |
bilirubin metabolic disorder (Q390475) |
4
|
Yes |
other syndrome with a central nervous system malformation as major feature (Q55786835) |
4
|
Yes |
retinal degeneration (Q3043268) |
4
|
Yes |
spondyloepiphyseal dysplasia (Q7578956) |
4
|
Yes |
MYH9-related disorder (Q3843790) |
4
|
Yes |
glucuronosyltransferase activity (Q14901432) |
4
|
Yes |
hypotrichosis (Q1641483) |
4
|
Yes |
O-acyltransferase activity (Q14905447) |
4
|
Yes |
oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (Q14907099) |
4
|
Yes |
keratosis (Q3667186) |
4
|
Yes |
TRPV4-related bone disorder (Q55787813) |
4
|
Yes |
cell type cancer (Q18553402) |
4
|
Yes |
distomatosis (Q3030745) |
4
|
Yes |
cyclo-ligase activity (Q22323949) |
4
|
Yes |
neurogenic arthrogryposis multiplex congenita (Q708165) |
4
|
Yes |
hereditary ataxia (Q3731293) |
4
|
Yes |
carbon-halide lyase activity (Q22324143) |
4
|
Yes |
Primary lymphedema (Q7243149) |
4
|
Yes |
racemase and epimerase activity, acting on hydroxy acids and derivatives (Q22324114) |
4
|
Yes |
endocrine system disease (Q2661443) |
4
|
Yes |
non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature (Q55787877) |
4
|
Yes |
transketolase or transaldolase activity (Q22323509) |
4
|
Yes |
periodic paralysis (Q1788314) |
4
|
Yes |
peroxidase activity (Q14819650) |
4
|
Yes |
inborn errors of purine–pyrimidine metabolism (Q3281375) |
4
|
Yes |
lymphoproliferative disorders (Q4165484) |
4
|
Yes |
optic nerve disease (Q2879095) |
4
|
Yes |
rare genetic vascular tumor (Q55788290) |
4
|
Yes |
epilepsy (Q41571) |
4
|
Yes |
horse disease (Q29568408) |
4
|
Yes |
photodermatosis (Q2986815) |
4
|
Yes |
spinal cord disease (Q2303951) |
4
|
Yes |
autoimmune disease of gastrointestinal tract (Q18553608) |
4
|
Yes |
type 1 interferonopathy (Q55788332) |
4
|
Yes |
sleep disorder (Q177190) |
4
|
Yes |
L-glutamine aminotransferase activity (Q22321604) |
4
|
Yes |
pancreas disease (Q7130407) |
4
|
Yes |
inborn disorder of purine metabolism (Q55788557) |
4
|
Yes |
gastrointestinal system disease (Q2300099) |
4
|
Yes |
congenital disorder of glycosylation with epilepsy as a major feature (Q55787880) |
3
|
Yes |
colitis (Q2453464) |
3
|
Yes |
anhidrosis (Q545408) |
3
|
Yes |
congenital disorder of glycosylation with cardiac malformation as a major feature (Q55787895) |
3
|
Yes |
X-linked cerebellar ataxia (Q21082499) |
3
|
Yes |
carbon-nitrogen ligase activity, with glutamine as amido-N-donor (Q21113273) |
3
|
Yes |
disorder of glycolysis (Q55787283) |
3
|
Yes |
disorder of sex development (Q5282521) |
3
|
Yes |
periodic fever syndrome (Q3278145) |
3
|
Yes |
constitutional megaloblastic anemia due to folate metabolism disorder (Q55789130) |
3
|
Yes |
polyposis (Q2103081) |
3
|
Yes |
inflammatory and autoimmune disease with epilepsy (Q55785633) |
3
|
Yes |
foodborne illness (Q272002) |
3
|
Yes |
congenital disorder of glycosylation-related bone disorder (Q55787913) |
3
|
Yes |
familial partial epilepsy (Q55787290) |
3
|
Yes |
hemolytic anemia due to a disorder of glycolytic enzymes (Q55789127) |
3
|
Yes |
Erythrokeratodermia (Q5396475) |
3
|
Yes |
disorder of fatty acid oxidation and ketogenesis (Q55787301) |
3
|
Yes |
alcohol dehydrogenase (NAD+) activity (Q21096466) |
3
|
Yes |
alcohol dehydrogenase (NADP+) activity (Q21097135) |
3
|
Yes |
disorder of O-xylosylglycan synthesis (Q55787318) |
3
|
Yes |
disorder of carnitine cycle and carnitine transport (Q55787303) |
3
|
Yes |
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (Q55787324) |
3
|
Yes |
parasitic skin disease (Q54911414) |
3
|
Yes |
neural tube defect (Q548213) |
3
|
Yes |
monogenic disease with epilepsy (Q55785628) |
3
|
Yes |
branched-chain-amino-acid transaminase activity (Q21109555) |
3
|
Yes |
syndrome with limb malformations as a major feature (Q55785343) |
3
|
Yes |
metalloid (Q19596) |
3
|
Yes |
primary bone dysplasia (Q55787804) |
3
|
Yes |
hair diseases (Q2989168) |
3
|
Yes |
autosomal dominant non-syndromic intellectual disability (Q19587382) |
3
|
Yes |
bronchospasm (Q279330) |
3
|
Yes |
nervous system anomaly with eye involvement (Q55789255) |
3
|
Yes |
acute encephalopathy with inflammation-mediated status epilepticus (Q55787790) |
3
|
Yes |
male infertility (Q280156) |
3
|
Yes |
spondylometaphyseal dysplasia (Q19309317) |
3
|
Yes |
pigmentation disorder with eye involvement, excluding albinism (Q55789271) |
3
|
Yes |
syndromic microphthalmia (Q29982037) |
3
|
Yes |
heart disease (Q190805) |
3
|
Yes |
achondrogenesis (Q2823145) |
3
|
Yes |
other immunodeficiency syndromes due to defects in innate immunity (Q55787696) |
3
|
Yes |
primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies (Q55785215) |
3
|
Yes |
esophageal disease (Q2912193) |
3
|
Yes |
rare parenchymal liver disease (Q55785260) |
3
|
Yes |
intestinal disease due to fat malabsorption (Q55785307) |
3
|
Yes |
combined oxidative phosphorylation deficiency (Q18987134) |
3
|
Yes |
syndrome with disorder of sex development of gynecological interest (Q55787661) |
3
|
Yes |
pharmaceutical product (Q28885102) |
3
|
Yes |
Joubert syndrome and related disorders (Q55345933) |
3
|
Yes |
bile acid synthesis defect with cholestasis and malabsorption (Q55785570) |
3
|
Yes |
syndromic epicanthus (Q55789170) |
3
|
Yes |
vector-borne disease (Q2083837) |
3
|
Yes |
EEC syndrome and related syndrome (Q55789198) |
3
|
Yes |
malformations of cortical development, Group III (Q55003193) |
3
|
Yes |
peripheral vascular disease (Q26695607) |
3
|
Yes |
phosphoenolpyruvate carboxykinase activity (Q21123205) |
3
|
Yes |
ciliopathy (Q203031) |
3
|
Yes |
arthrogryposis multiplex congenita (Q55785297) |
3
|
Yes |
arthrogryposis (Q55223313) |
3
|
Yes |
pityriasis (Q2097389) |
3
|
Yes |
primary bone dysplasia with micromelia (Q55787807) |
3
|
Yes |
autosomal recessive limb-girdle muscular dystrophy (Q27429766) |
3
|
Yes |
genetic macular dystrophy (Q55789238) |
3
|
Yes |
autosomal dominant cerebellar ataxia type I (Q55346087) |
3
|
Yes |
congenital vitreoretinal dysplasia (Q55789243) |
3
|
Yes |
hereditary optic neuropathy (Q55789244) |
3
|
Yes |
cerebrovascular disease (Q3010352) |
3
|
Yes |
syndrome with a symptomatic strabismus (Q55789247) |
3
|
Yes |
autosomal recessive degenerative and progressive cerebellar ataxia (Q55346094) |
3
|
Yes |
low molecular weight heparin (Q2750727) |
3
|
Yes |
progressive muscular dystrophy (Q55785935) |
3
|
Yes |
microcephaly (Q431643) |
3
|
Yes |
complex vascular malformation with associated anomalies (Q55786077) |
3
|
Yes |
FGFR3-related chondrodysplasia (Q55788796) |
3
|
Yes |
heteropolysaccharide (Q44068921) |
3
|
Yes |
neonatal diabetes mellitus (Q2898645) |
3
|
Yes |
multiple epiphyseal dysplasia and pseudoachondroplasia (Q55788804) |
3
|
Yes |
multiple metaphyseal dysplasia (Q55788805) |
3
|
Yes |
O-sinapoyltransferase activity (Q22323633) |
3
|
Yes |
adverse drug reaction (Q45959) |
3
|
Yes |
2-hydroxyglutaric aciduria (Q4596888) |
3
|
Yes |
non-dystrophic myopathy (Q55785938) |
3
|
Yes |
tricarboxylic acid cycle disorder (Q55786427) |
3
|
Yes |
bent bone dysplasia (Q55788810) |
3
|
Yes |
rifamycin (Q388565) |
3
|
Yes |
N-malonyltransferase activity (Q22323730) |
3
|
Yes |
3-hydroxyacyl-[acyl-carrier-protein] dehydratase activity (Q22323744) |
3
|
Yes |
Slender bone dysplasia (Q55788811) |
3
|
Yes |
ligase activity, forming carbon-carbon bonds (Q22323804) |
3
|
Yes |
oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptor (Q21760450) |
3
|
Yes |
hydrolase activity, acting on acid halide bonds, in C-halide compounds (Q21757801) |
3
|
Yes |
oxidoreductase activity, acting on the CH-NH group of donors (Q21756166) |
3
|
Yes |
primary bone dysplasia with defective bone mineralization (Q55788817) |
3
|
Yes |
oxidoreductase activity, acting on other nitrogenous compounds as donors, oxygen as acceptor (Q22319949) |
3
|
Yes |
epidermal disease (Q55788577) |
3
|
Yes |
GTP cyclohydrolase activity (Q22321012) |
3
|
Yes |
other epidermal disorder (Q55788580) |
3
|
Yes |
anthracycline antibiotic (Q417589) |
3
|
Yes |
hydrolase activity, acting on acid carbon-phosphorus bonds (Q22320556) |
3
|
Yes |
isolated genetic hair shaft abnormality (Q55788586) |
3
|
Yes |
phosphotransferase activity, paired acceptors (Q22321169) |
3
|
Yes |
amino acid or protein metabolism disease with epilepsy (Q55786194) |
3
|
Yes |
catalytic activity, acting on a glycoprotein (Q41513502) |
3
|
Yes |
catalytic activity, acting on a tRNA (Q41513031) |
3
|
Yes |
isolated oxidative phosphorylation complex disorder (Q55786477) |
3
|
Yes |
inositol trisphosphate kinase activity (Q22321267) |
3
|
Yes |
genetic vascular disease (Q55786280) |
3
|
Yes |
tetracycline antibiotic (Q422676) |
3
|
Yes |
carbapenem antibiotic (Q410897) |
3
|
Yes |
rare thrombotic disorder due to a constitutional coagulation factors defect (Q55786345) |
3
|
Yes |
inherited nervous system cancer-predisposing syndrome (Q55786407) |
3
|
Yes |
hexitol dehydrogenase activity (Q22318677) |
3
|
Yes |
oxidoreductase activity, acting on the CH-OH group of donors, cytochrome as acceptor (Q22318322) |
3
|
Yes |
glycogen storage disease with hypertrophic cardiomyopathy (Q55786141) |
3
|
Yes |
peroxisomal beta-oxidation disorder (Q55788555) |
3
|
Yes |
disorder of lysine and hydroxylysine metabolism (Q55787002) |
3
|
Yes |
spirochetal diseases (Q3493588) |
3
|
Yes |
tremor (Q223907) |
3
|
Yes |
Moyamoya syndrome (Q55788342) |
3
|
Yes |
Chromosome 15q partial deletion (Q5113911) |
3
|
Yes |
Zellweger spectrum disorder (Q51250082) |
3
|
Yes |
rare genetic renal disease (Q55789069) |
3
|
Yes |
hypobetalipoproteinemia (Q3444851) |
3
|
Yes |
congenital hemolytic anemia (Q5160435) |
3
|
Yes |
peptide hormone (Q416997) |
3
|
Yes |
congenital limb deformity (Q5160441) |
3
|
Yes |
corneal endothelial dystrophy (Q21154083) |
3
|
Yes |
genetic otorhinolaryngologic disease (Q55788308) |
3
|
Yes |
total autosomal trisomy (Q55789082) |
3
|
Yes |
synucleinopathy (Q2376264) |
3
|
Yes |
phosphatidylinositol phosphate kinase activity (Q21121802) |
3
|
Yes |
primary lymphedema with associated anomalies (Q55788282) |
3
|
Yes |
hypogonadotropic hypogonadism associated with other endocrinopathies (Q55785799) |
3
|
Yes |
rare capillary malformation with associated anomalies (Q55788279) |
3
|
Yes |
antimalarial (Q521616) |
3
|
Yes |
syndromic diaphragmatic or thoracic malformation (Q55785792) |
3
|
Yes |
thiolester hydrolase activity (Q21118774) |
3
|
Yes |
intrahepatic cholestasis (Q3682587) |
3
|
Yes |
bacterial pneumonia (Q3776920) |
3
|
Yes |
intramolecular transferase activity, transferring hydroxy groups (Q22324039) |
3
|
Yes |
patellar dysostosis (Q55788824) |
3
|
Yes |
racemase and epimerase activity (Q22324095) |
3
|
Yes |
midface dysplasia (Q3725646) |
3
|
Yes |
racemase and epimerase activity, acting on amino acids and derivatives (Q22324100) |
3
|
Yes |
gene therapy (Q213901) |
3
|
Yes |
polydactyly (Q371520) |
3
|
Yes |
disease of glomerular basement membrane (Q55788834) |
3
|
Yes |
dermatomycosis (Q3705876) |
3
|
Yes |
tooth pathology (Q5259414) |
3
|
Yes |
recombinant fusion proteins (Q50228773) |
3
|
Yes |
amidine-lyase activity (Q22324343) |
3
|
Yes |
oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor (Q21199232) |
3
|
Yes |
syndrome with a cerebellar malformation as major feature (Q55786833) |
3
|
Yes |
rare genetic subcutaneous tissue disorder (Q55785836) |
3
|
Yes |
uridylyltransferase activity (Q21199066) |
3
|
Yes |
inherited digestive tract tumor (Q55786847) |
3
|
Yes |
central nervous system viral disease (Q5062121) |
3
|
Yes |
rare hemorrhagic disorder due to a qualitative platelet defect (Q55786859) |
3
|
Yes |
rare disease with odontological manifestation (Q55789054) |
3
|
Yes |
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (Q14864403) |
3
|
Yes |
brain cancer (Q9303627) |
3
|
Yes |
hydroxymethyl-, formyl- and related transferase activity (Q14914196) |
3
|
No |
failed hypothesis (Q66970557) |
3
|
Yes |
aldehyde dehydrogenase (NAD+) activity (Q14911775) |
3
|
Yes |
hypogonadism (Q938107) |
3
|
Yes |
pancreatitis (Q1527888) |
3
|
Yes |
penile disease (Q18554834) |
3
|
Yes |
pyrimidine metabolic disorder (Q18553504) |
3
|
Yes |
insulin resistance (Q1053470) |
3
|
Yes |
neuro-cardio-facial-cutaneous syndromes (Q17074582) |
3
|
Yes |
non-syndromic intellectual disability (Q18553537) |
3
|
Yes |
spinocerebellar ataxia (Q899726) |
3
|
Yes |
cerebellar disease (Q564123) |
3
|
Yes |
tapeworm infection (Q7356544) |
3
|
Yes |
coxsackievirus infectious disease (Q18966421) |
3
|
Yes |
heart septal defect (Q16934669) |
3
|
Yes |
retinal vascular disease (Q12195125) |
3
|
Yes |
agammaglobulinemia (Q1047559) |
3
|
Yes |
antioxidant activity (Q14819235) |
3
|
Yes |
conjunctival disease (Q18556249) |
3
|
Yes |
splenic disease (Q7578540) |
3
|
Yes |
autoimmune disease of endocrine system (Q18553586) |
3
|
Yes |
rickettsiosis (Q646664) |
3
|
Yes |
group 16 (Q104567) |
3
|
Yes |
Ohtahara syndrome (Q649602) |
3
|
Yes |
galactosemia (Q774483) |
3
|
Yes |
stomach disease (Q175827) |
3
|
Yes |
oligomycins (Q1076381) |
3
|
Yes |
hepatic vascular disease (Q18555173) |
3
|
Yes |
renal tubular acidosis (Q1516211) |
3
|
Yes |
neonatal period electroclinical syndrome (Q18553412) |
3
|
Yes |
emerging communicable disease (Q609748) |
3
|
Yes |
childhood electroclinical syndrome (Q18553414) |
3
|
Yes |
PIK3CA-related overgrowth spectrum (Q60745036) |
3
|
Yes |
neuromuscular junction disease (Q7002430) |
3
|
Yes |
upper respiratory tract disease (Q18558209) |
3
|
Yes |
serine deficiency (Q18553425) |
3
|
Yes |
gonadal dysgenesis (Q1332427) |
3
|
Yes |
phospholipase activity (Q14864744) |
3
|
Yes |
male reproductive organ cancer (Q18556093) |
3
|
Yes |
methyltransferase activity (Q14863658) |
3
|
Yes |
anti-neutrophil cytoplasmic antibody-associated vasculitis (Q17239200) |
3
|
Yes |
ovarian disease (Q7113244) |
3
|
Yes |
sex differentiation disease (Q18554938) |
3
|
Yes |
cholestasis (Q1075923) |
3
|
Yes |
bone cancer (Q18554919) |
3
|
Yes |
cardiomyopathy (Q847583) |
3
|
Yes |
interstitial lung disease (Q1153419) |
3
|
Yes |
osteogenesis imperfecta (Q749409) |
3
|
Yes |
antibody-drug conjugate (Q1069596) |
3
|
Yes |
hemoglobinopathy (Q1642147) |
3
|
Yes |
autonomic nervous system disease (Q18554088) |
3
|
Yes |
epidermolysis bullosa (Q923020) |
3
|
Yes |
neuroacanthocytosis (Q746781) |
3
|
Yes |
Herpesviridae infectious disease (Q18975237) |
3
|
Yes |
coronavirus disease (Q18975243) |
3
|
Yes |
lens disease (Q18553990) |
3
|
Yes |
hypothyroidism (Q16501) |
3
|
Yes |
genodermatosis (Q666075) |
3
|
Yes |
myeloid neoplasm (Q18553734) |
3
|
Yes |
head and neck cancer (Q1783924) |
3
|
Yes |
treponematosis (Q1243869) |
3
|
Yes |
bullous skin disease (Q18557957) |
3
|
Yes |
myoclonic epilepsy (Q11883686) |
3
|
Yes |
testicular disease (Q7705854) |
3
|
Yes |
angiotensins (Q65963433) |
3
|
Yes |
steroid inherited metabolic disorder (Q15051314) |
3
|
Yes |
psoriasis (Q179945) |
3
|
Yes |
respiratory system cancer (Q7315926) |
3
|
Yes |
hyperostosis (Q1632552) |
3
|
Yes |
baldness (Q181391) |
3
|
Yes |
congenital bone marrow failure syndromes (Q98713408) |
3
|
Yes |
hyperaldosteronism (Q1640860) |
3
|
Yes |
hyperlipoproteinemia (Q68639544) |
3
|
Yes |
Hereditary inclusion body myopathy (Q5737853) |
3
|
Yes |
phosphatidylinositol 3-kinase activity (Q14887667) |
3
|
No |
type of polymer (Q119896085) |
3
|
Yes |
myositis (Q1433212) |
3
|
Yes |
thyroid gland disease (Q6673122) |
3
|
Yes |
microphthalmia (Q1557239) |
3
|
Yes |
cellulitis (Q876887) |
3
|
Yes |
hypolipoproteinemia (Q5959735) |
3
|
Yes |
myeloid leukemia (Q11688946) |
3
|
Yes |
genetic motor neuron disease (Q55790454) |
3
|
Yes |
Idiopathic generalized epilepsy (Q5988876) |
3
|
Yes |
distal arthrogryposis (Q18553375) |
2
|
Yes |
Mannosidosis (Q6750947) |
2
|
Yes |
genetic deafness (Q3505181) |
2
|
Yes |
deafness (Q12133) |
2
|
Yes |
lethal multiple congenital anomalies/dysmorphic syndrome (Q55788292) |
2
|
Yes |
homopolymer (Q499932) |
2
|
Yes |
rare disease with thoracic aortic aneurysm and aortic dissection (Q55786976) |
2
|
Yes |
muscular dystrophy-dystroglycanopathy (Q18553324) |
2
|
Yes |
sarcoma (Q223911) |
2
|
Yes |
nephrotic syndrome (Q504790) |
2
|
Yes |
rare disease with malignant hyperthermia (Q55788310) |
2
|
Yes |
immune-mediated acquired neuromuscular junction disease (Q55788305) |
2
|
Yes |
gastroenteritis (Q156103) |
2
|
Yes |
precocious puberty (Q224513) |
2
|
Yes |
oxidosqualene cyclase activity (Q22324049) |
2
|
Yes |
genetic central nervous system and retinal vascular disease (Q55785839) |
2
|
Yes |
neuromuscular disease (Q2246789) |
2
|
Yes |
non-severe combined immunodeficiency (Q55788363) |
2
|
Yes |
metabolic myopathy (Q6822345) |
2
|
Yes |
granulocyte colony-stimulating factor (Q50229794) |
2
|
Yes |
inherited skin tumor (Q55785837) |
2
|
Yes |
marfanoid (Q6759035) |
2
|
Yes |
monochromacy (Q67959679) |
2
|
Yes |
intellectual disability (Q183560) |
2
|
Yes |
pseudohermaphroditism (Q2273662) |
2
|
Yes |
distichia (Q1229478) |
2
|
Yes |
chloropolymer (Q22683747) |
2
|
Yes |
aliphatic (R)-hydroxynitrile lyase activity (Q22324275) |
2
|
Yes |
opportunistic bacterial infectious disease (Q18553249) |
2
|
Yes |
obesity (Q12174) |
2
|
Yes |
pneumonia (Q12192) |
2
|
Yes |
Bare lymphocyte syndrome (Q3508735) |
2
|
Yes |
breast disease (Q4959796) |
2
|
Yes |
subcutaneous mycosis (Q18553213) |
2
|
Yes |
coronary artery disease (Q844935) |
2
|
Yes |
acute lymphocytic leukemia (Q180664) |
2
|
Yes |
autosomal ichthyosis syndrome with fatal disease course (Q55786955) |
2
|
Yes |
antiviral drug (Q846227) |
2
|
Yes |
gamma-amino butyric acid metabolism disorder (Q18553706) |
2
|
Yes |
L-phenylalanine aminotransferase activity (Q22321600) |
2
|
Yes |
sulfated glycosaminoglycan (Q74512974) |
2
|
Yes |
pervasive developmental disorder (Q6691991) |
2
|
Yes |
transferase activity, transferring nitrogenous groups (Q22321540) |
2
|
Yes |
disorder of pyridoxine metabolism (Q55788558) |
2
|
Yes |
inherited non-syndromic ichthyosis (Q55786947) |
2
|
Yes |
autoimmune disease of blood (Q18553621) |
2
|
Yes |
systemic diseases with panuveitis (Q55786946) |
2
|
Yes |
UTP-monosaccharide-1-phosphate uridylyltransferase activity (Q22321409) |
2
|
Yes |
diphosphotransferase activity (Q22321400) |
2
|
Yes |
CDP-alcohol phosphatidyltransferase activity (Q22321340) |
2
|
Yes |
thoracic disease (Q18553676) |
2
|
Yes |
inborn disorder of energy metabolism (Q55788564) |
2
|
Yes |
inositol hexakisphosphate kinase activity (Q22321253) |
2
|
Yes |
deoxynucleoside kinase activity (Q22321238) |
2
|
Yes |
autoimmune disease of central nervous system (Q18553585) |
2
|
Yes |
congenital estrogen deficiency (Q5160428) |
2
|
Yes |
other metabolic disease with skin involvement (Q55788569) |
2
|
Yes |
phosphatidylinositol kinase activity (Q22321144) |
2
|
Yes |
congenital hypoplastic anemia (Q5160440) |
2
|
Yes |
hydrolase activity, acting on carbon-sulfur bonds (Q22321054) |
2
|
Yes |
ether hydrolase activity (Q22321038) |
2
|
Yes |
herpangina (Q665258) |
2
|
Yes |
learning disability (Q860740) |
2
|
Yes |
cyclohydrolase activity (Q22321011) |
2
|
Yes |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in nitriles (Q22320827) |
2
|
Yes |
chlamydia infection (Q153356) |
2
|
Yes |
meningeal neoplasm (Q66106658) |
2
|
Yes |
other genetic epidermal disease (Q55788581) |
2
|
Yes |
eyelid degenerative disease (Q18553781) |
2
|
Yes |
cancer (Q12078) |
2
|
Yes |
atelosteogenesis (Q18553377) |
2
|
Yes |
male reproductive system disease (Q6742925) |
2
|
Yes |
Brooke-Spiegler syndrome (Q18553408) |
2
|
Yes |
absence of pain sensation (Q50592854) |
2
|
Yes |
succinate-CoA ligase activity (Q22323849) |
2
|
Yes |
adolescence-adult electroclinical syndrome (Q18553415) |
2
|
Yes |
CoA carboxylase activity (Q22323809) |
2
|
Yes |
autosomal ichthyosis syndrome with prominent neurological signs (Q55786954) |
2
|
Yes |
ligase activity, forming nitrogen-metal bonds, forming coordination complexes (Q22323803) |
2
|
Yes |
uterine cancer (Q1209744) |
2
|
Yes |
central nervous system and retinal vascular disease (Q55788489) |
2
|
Yes |
S-acetyltransferase activity (Q22323714) |
2
|
No |
mineral species (Q12089225) |
2
|
Yes |
aminoglycoside N-acetyltransferase activity (Q22323684) |
2
|
Yes |
N-succinyltransferase activity (Q22323665) |
2
|
Yes |
multiple hamartoma syndrome (Q3508737) |
2
|
Yes |
large intestine cancer (Q12048781) |
2
|
Yes |
intractable diarrhea of infancy (Q55788495) |
2
|
Yes |
carnitine O-acyltransferase activity (Q22323607) |
2
|
Yes |
tricuspid valve disease (Q18553500) |
2
|
Yes |
neurofibromatoses (Q847605) |
2
|
Yes |
keratinopathic ichthyosis (Q55786950) |
2
|
Yes |
inborn disorder of ketolysis (Q55788550) |
2
|
Yes |
rRNA (guanine-N1-)-methyltransferase activity (Q22322823) |
2
|
No |
strain (Q855769) |
2
|
Yes |
C-methyltransferase activity (Q22322667) |
2
|
Yes |
5,10-methylenetetrahydrofolate-dependent methyltransferase activity (Q22322604) |
2
|
Yes |
inborn disorder of pentose phosphate metabolism (Q55788553) |
2
|
Yes |
heteroglycan alpha-mannosyltransferase activity (Q22322322) |
2
|
Yes |
impulse control disorder (Q1201835) |
2
|
Yes |
soft-tissue sarcoma (Q720020) |
2
|
Yes |
vein disorder (Q7918687) |
2
|
Yes |
typhus (Q160649) |
2
|
Yes |
syndrome with 46,XX disorder of sex development (Q55787628) |
2
|
Yes |
mixed autoinflammatory and autoimmune syndrome (Q55787621) |
2
|
Yes |
pituitary gland disease (Q7199538) |
2
|
Yes |
granulomatous autoinflammatory syndrome (Q55787619) |
2
|
Yes |
cerebral creatine deficiency syndrome (Q16908143) |
2
|
Yes |
hereditary periodic fever syndrome (Q55787617) |
2
|
Yes |
phagocyte bactericidal dysfunction (Q7180167) |
2
|
Yes |
leukemia (Q29496) |
2
|
Yes |
qualitative or quantitative defects of protein SERCA1 (Q55786047) |
2
|
Yes |
steroid hydroxylase activity (Q14358454) |
2
|
Yes |
pitooo (Q2970970) |
2
|
Yes |
microcephalic primordial dwarfism (Q55787615) |
2
|
Yes |
esophagitis (Q298230) |
2
|
Yes |
oxidoreductase activity (Q14349613) |
2
|
Yes |
mycetoma (Q16877704) |
2
|
Yes |
viral gastroenteritis (Q7933602) |
2
|
Yes |
salivary gland disease (Q17152566) |
2
|
Yes |
antibody (Q79460) |
2
|
Yes |
lipoglycopeptides (Q17142033) |
2
|
Yes |
autosomal recessive congenital ichthyosis (Q27982006) |
2
|
Yes |
streptogramins (Q739867) |
2
|
Yes |
parathyroid gland disease (Q7136145) |
2
|
Yes |
thrombotic microangiopathy (Q3312044) |
2
|
Yes |
lysosomal disease with restrictive cardiomyopathy (Q55786156) |
2
|
Yes |
pleural disease (Q7204732) |
2
|
Yes |
qualitative or quantitative protein defects in neuromuscular diseases (Q55785960) |
2
|
Yes |
alpha-glucosidase (Q2839456) |
2
|
Yes |
progressive epilepsy and/or ataxia with myoclonus as a major feature (Q55787255) |
2
|
Yes |
ehrlichiosis (Q2845432) |
2
|
Yes |
borreliosis (Q16006998) |
2
|
Yes |
autism spectrum disorder (Q1436063) |
2
|
Yes |
otopalatodigital syndrome spectrum disorder (Q3281416) |
2
|
Yes |
visual impairment (Q737460) |
2
|
Yes |
reactive neutrophilic dermatose (Q7300315) |
2
|
Yes |
lysosomal glycogen storage disease (Q55787314) |
2
|
Yes |
fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy (Q55786145) |
2
|
Yes |
hypogonadotropic hypogonadism (Q30990102) |
2
|
Yes |
mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (Q55787305) |
2
|
Yes |
polyolefin (Q424370) |
2
|
Yes |
microvasculitis (Q42417680) |
2
|
Yes |
epidermolysis bullosa simplex (Q3124960) |
2
|
Yes |
acyl-CoA dehydrogenase deficiency (Q55787302) |
2
|
Yes |
disorder of protein N-glycosylation (Q55787316) |
2
|
Yes |
melanocyte-stimulating hormone (Q423981) |
2
|
Yes |
reproductive system disease (Q7314317) |
2
|
Yes |
disorder of glyoxylate metabolism (Q55787289) |
2
|
Yes |
disorder of fructose metabolism (Q55787284) |
2
|
Yes |
encephalomyelitis (Q1634879) |
2
|
Yes |
disorder of neutral amino acid transport (Q55787282) |
2
|
Yes |
inborn aminoacylase deficiency (Q55787281) |
2
|
Yes |
acrylate polymer (Q423145) |
2
|
Yes |
non-coding RNA (Q427087) |
2
|
Yes |
miscellaneous movement disorder due to genetic neurodegenerative disease (Q55787261) |
2
|
Yes |
histiocytosis (Q1411740) |
2
|
Yes |
infection of the central nervous system (Q4316437) |
2
|
Yes |
rare genetic tremor disorder (Q55787262) |
2
|
Yes |
disorder of catecholamine synthesis (Q55787335) |
2
|
Yes |
allergy (Q42982) |
2
|
Yes |
fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy (Q55786152) |
2
|
Yes |
autosomal dominant diffuse mutilating palmoplantar keratoderma (Q55787267) |
2
|
Yes |
venous thrombosis (Q2751330) |
2
|
Yes |
SOST-related sclerosing bone dysplasia (Q3042146) |
2
|
Yes |
progressive myoclonus epilepsy (Q7248853) |
2
|
Yes |
Niemann-Pick disease (Q1419931) |
2
|
Yes |
immunoconjugates (Q1660173) |
2
|
Yes |
trophoblastic neoplasm (Q7845637) |
2
|
Yes |
fusion protein (Q425158) |
2
|
Yes |
hyperthyroidism (Q16499) |
2
|
Yes |
rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin (Q55788068) |
2
|
Yes |
cystitis (Q246084) |
2
|
Yes |
granulocyte-macrophage colony-stimulating factor (Q24724548) |
2
|
Yes |
multiple abnormalities (Q6934911) |
2
|
Yes |
Addison's disease (Q8282) |
2
|
Yes |
rare genetic odontal or periodontal disorder (Q55788118) |
2
|
Yes |
multiple carboxylase deficiency (Q6934914) |
2
|
Yes |
chromosome abnormality (Q744962) |
2
|
Yes |
genetic susceptibility to infections due to particular pathogens (Q55785862) |
2
|
Yes |
immune deficiency with skin involvement (Q55788607) |
2
|
Yes |
intestinal parasite infection (Q475510) |
2
|
Yes |
rare genetic disorder with obstructive azoospermia (Q55788066) |
2
|
Yes |
adrenal insufficiency (Q2507454) |
2
|
Yes |
mouth disease (Q2508462) |
2
|
Yes |
calcium channel blocker (Q421700) |
2
|
Yes |
hepatitis (Q131742) |
2
|
Yes |
fish disease (Q4740894) |
2
|
Yes |
rare male fertility disorder with obstructive azoospermia (Q55788042) |
2
|
Yes |
ocular cancer (Q2420648) |
2
|
Yes |
lymphangioma (Q1545750) |
2
|
Yes |
mitochondrial encephalomyopathy (Q6881866) |
2
|
Yes |
amelia (Q23900578) |
2
|
Yes |
calcinosis (Q239027) |
2
|
Yes |
inherited renal tumor (Q55785849) |
2
|
Yes |
basal ganglia disease (Q4866181) |
2
|
Yes |
B-cell leukemia (Q4833721) |
2
|
Yes |
syndromic hereditary optic neuropathy (Q55788215) |
2
|
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