Coverage
What we hold evidence on.
CASK is our anchor, but the substrate is gene-general on purpose — the whole point of a general evidence base is to carry what is known about a well-studied gene onto one nobody has studied. This is what that actually amounts to today.
Measurements in our corpus are attributed to 3,112 genes in total. Listed below are the 192 with at least 5 papers behind them. The rest are real but thin — 2,260 rest on a single paper — and we would rather draw the line where it is and tell you than pad the list.
It is keyed by gene, because a genetic report names a gene and that is what you will be searching for. Where a curated clinical source settles what the gene causes, the condition is named beside it. Where curators do not agree on a single name, none is shown — that gap is deliberate, and explained below.
The list
Genes, and how much sits behind each
Ordered by how many papers contribute measurements. A paper counts once per gene it reports on.
X-linked syndromic intellectual disability
87 papers · 9,684 measurements
Rett syndrome
81 papers · 2,541 measurements
CDKL5 disorder
47 papers · 1,353 measurements
amyotrophic lateral sclerosis type 1
45 papers · 598 measurements
cerebral amyloid angiopathy, APP-related
38 papers · 578 measurements
5 conditions, curators differ
33 papers · 1,059 measurements
Huntington disease
33 papers · 524 measurements
Alzheimer disease 2
32 papers · 395 measurements
4 conditions, curators differ
29 papers · 188 measurements
Parkinson disease
28 papers · 510 measurements
complex neurodevelopmental disorder
26 papers · 903 measurements
Parkinson disease
25 papers · 260 measurements
Parkinson disease
23 papers · 76 measurements
3 conditions, curators differ
22 papers · 628 measurements
3 conditions, curators differ
22 papers · 502 measurements
no curated gene–disease record
22 papers · 261 measurements
GLUT1 deficiency syndrome
21 papers · 328 measurements
CODAS syndrome
19 papers · 372 measurements
TFRC-related combined immunodeficiency
19 papers · 171 measurements
mucopolysaccharidosis type 1
18 papers · 248 measurements
OPA1-related optic atrophy with or without extraocular features
18 papers · 41 measurements
fragile X syndrome
17 papers · 260 measurements
encephalopathy due to mitochondrial and peroxisomal fission defect
17 papers · 144 measurements
no curated gene–disease record
17 papers · 66 measurements
amyotrophic lateral sclerosis type 10
16 papers · 398 measurements
mitochondrial disease
16 papers · 239 measurements
no curated gene–disease record
16 papers · 54 measurements
genetic developmental and epileptic encephalopathy
15 papers · 1,222 measurements
amyotrophic lateral sclerosis type 6
15 papers · 272 measurements
X-linked intellectual disability
15 papers · 232 measurements
no curated gene–disease record
15 papers · 99 measurements
4 conditions, curators differ
15 papers · 83 measurements
no curated gene–disease record
15 papers · 81 measurements
X-linked complex neurodevelopmental disorder
14 papers · 481 measurements
mitochondrial disease
14 papers · 416 measurements
Fabry disease
14 papers · 414 measurements
progressive muscular dystrophy
14 papers · 280 measurements
pontocerebellar hypoplasia
14 papers · 92 measurements
immunodeficiency, developmental delay, and hypohomocysteinemia
14 papers · 48 measurements
mucopolysaccharidosis type 2
13 papers · 506 measurements
developmental and epileptic encephalopathy, 39
13 papers · 204 measurements
Parkinson disease
13 papers · 90 measurements
PTEN hamartoma tumor syndrome
12 papers · 327 measurements
complex neurodevelopmental disorder
12 papers · 192 measurements
pontocerebellar hypoplasia type 1B
12 papers · 101 measurements
spondylometaphyseal dysplasia, Sedaghatian type
12 papers · 41 measurements
no curated gene–disease record
12 papers · 35 measurements
3 conditions, curators differ
12 papers · 17 measurements
4 conditions, curators differ
11 papers · 725 measurements
complex neurodevelopmental disorder
11 papers · 264 measurements
Li-Fraumeni syndrome
11 papers · 174 measurements
complex neurodevelopmental disorder
11 papers · 161 measurements
2 conditions, curators differ
11 papers · 158 measurements
complex neurodevelopmental disorder
11 papers · 135 measurements
2 conditions, curators differ
11 papers · 127 measurements
cystic fibrosis
11 papers · 97 measurements
no curated gene–disease record
11 papers · 12 measurements
Niemann-Pick disease, type C1
10 papers · 526 measurements
glycogen storage disease II
10 papers · 407 measurements
mitochondrial disease
10 papers · 152 measurements
3 conditions, curators differ
10 papers · 143 measurements
complex neurodevelopmental disorder
10 papers · 121 measurements
no curated gene–disease record
10 papers · 98 measurements
mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
10 papers · 79 measurements
no curated gene–disease record
10 papers · 64 measurements
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
10 papers · 51 measurements
spinal muscular atrophy, type III
10 papers · 39 measurements
Maffucci syndrome
10 papers · 21 measurements
leukemia, acute lymphocytic, susceptibility to, 1
10 papers · 12 measurements
Angelman syndrome
9 papers · 491 measurements
5 conditions, curators differ
9 papers · 301 measurements
3 conditions, curators differ
9 papers · 212 measurements
citrin deficiency
9 papers · 183 measurements
neurodevelopmental disorder
9 papers · 56 measurements
3 conditions, curators differ
9 papers · 48 measurements
no curated gene–disease record
9 papers · 35 measurements
no curated gene–disease record
9 papers · 11 measurements
complex neurodevelopmental disorder
8 papers · 331 measurements
Friedreich ataxia
8 papers · 298 measurements
mucopolysaccharidosis type 3A
8 papers · 192 measurements
mitochondrial disease
8 papers · 190 measurements
FOXG1 disorder
8 papers · 182 measurements
2 conditions, curators differ
8 papers · 151 measurements
3 conditions, curators differ
8 papers · 123 measurements
pontocerebellar hypoplasia type 9
8 papers · 114 measurements
no curated gene–disease record
8 papers · 103 measurements
2 conditions, curators differ
8 papers · 94 measurements
Schaaf-Yang syndrome
8 papers · 80 measurements
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
8 papers · 43 measurements
no curated gene–disease record
8 papers · 42 measurements
non-small cell lung carcinoma
8 papers · 41 measurements
Peutz-Jeghers syndrome
8 papers · 39 measurements
complex neurodevelopmental disorder
8 papers · 33 measurements
Burkitt lymphoma
8 papers · 31 measurements
no curated gene–disease record
8 papers · 28 measurements
6 conditions, curators differ
8 papers · 22 measurements
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
8 papers · 11 measurements
spinocerebellar ataxia type 2
7 papers · 292 measurements
creatine transporter deficiency
7 papers · 250 measurements
Pitt-Hopkins syndrome
7 papers · 212 measurements
diabetes mellitus, noninsulin-dependent
7 papers · 102 measurements
2 conditions, curators differ
7 papers · 99 measurements
no curated gene–disease record
7 papers · 79 measurements
Phelan-McDermid syndrome
7 papers · 79 measurements
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
7 papers · 74 measurements
no curated gene–disease record
7 papers · 72 measurements
pontocerebellar hypoplasia, type 1C
7 papers · 68 measurements
no curated gene–disease record
7 papers · 68 measurements
3 conditions, curators differ
7 papers · 64 measurements
no curated gene–disease record
7 papers · 63 measurements
inflammatory bowel disease 13
7 papers · 61 measurements
mitochondrial disease
7 papers · 54 measurements
3 conditions, curators differ
7 papers · 36 measurements
amyotrophic lateral sclerosis type 8
7 papers · 34 measurements
spinocerebellar ataxia, autosomal recessive 31
7 papers · 30 measurements
mitochondrial disease
7 papers · 20 measurements
no curated gene–disease record
7 papers · 18 measurements
Berardinelli-Seip congenital lipodystrophy
7 papers · 14 measurements
hereditary diffuse gastric adenocarcinoma
7 papers · 10 measurements
mitochondrial disease
6 papers · 231 measurements
epilepsy with myoclonic atonic seizures
6 papers · 180 measurements
Hao-Fountain syndrome
6 papers · 153 measurements
2 conditions, curators differ
6 papers · 108 measurements
Rett syndrome
6 papers · 104 measurements
no curated gene–disease record
6 papers · 100 measurements
2 conditions, curators differ
6 papers · 81 measurements
no curated gene–disease record
6 papers · 74 measurements
growth delay due to insulin-like growth factor I resistance
6 papers · 62 measurements
X-linked complex neurodevelopmental disorder
6 papers · 61 measurements
no curated gene–disease record
6 papers · 58 measurements
obesity due to leptin receptor gene deficiency
6 papers · 56 measurements
complex neurodevelopmental disorder
6 papers · 53 measurements
3 conditions, curators differ
6 papers · 48 measurements
hypercholesterolemia, familial, 1
6 papers · 48 measurements
mitochondrial disease
6 papers · 47 measurements
2 conditions, curators differ
6 papers · 45 measurements
monogenic diabetes
6 papers · 31 measurements
no curated gene–disease record
6 papers · 24 measurements
Kennedy disease
6 papers · 23 measurements
glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
6 papers · 21 measurements
hyperinsulinism due to UCP2 deficiency
6 papers · 21 measurements
megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
6 papers · 20 measurements
arrhythmogenic right ventricular cardiomyopathy
6 papers · 19 measurements
Alexander disease
6 papers · 17 measurements
no curated gene–disease record
6 papers · 9 measurements
heme oxygenase 1 deficiency
6 papers · 6 measurements
Charcot-Marie-Tooth disease, demyelinating, type 1J
5 papers · 243 measurements
genetic developmental and epileptic encephalopathy
5 papers · 207 measurements
neuronal ceroid lipofuscinosis
5 papers · 186 measurements
methylmalonic aciduria and homocystinuria type cblC
5 papers · 150 measurements
phenylketonuria
5 papers · 147 measurements
neurodevelopmental disorder with language impairment and behavioral abnormalities
5 papers · 143 measurements
arterial calcification, generalized, of infancy, 1
5 papers · 139 measurements
no curated gene–disease record
5 papers · 110 measurements
3 conditions, curators differ
5 papers · 108 measurements
Machado-Joseph disease
5 papers · 100 measurements
3 conditions, curators differ
5 papers · 96 measurements
no curated gene–disease record
5 papers · 91 measurements
no curated gene–disease record
5 papers · 89 measurements
no curated gene–disease record
5 papers · 80 measurements
AFG3L2-related optic atrophy and/or spastic ataxia spectrum
5 papers · 70 measurements
4 conditions, curators differ
5 papers · 68 measurements
3 conditions, curators differ
5 papers · 61 measurements
2 conditions, curators differ
5 papers · 61 measurements
pontocerebellar hypoplasia type 10
5 papers · 60 measurements
neurodevelopmental disorder
5 papers · 53 measurements
Lesch-Nyhan syndrome
5 papers · 46 measurements
no curated gene–disease record
5 papers · 40 measurements
no curated gene–disease record
5 papers · 37 measurements
Baraitser-Winter cerebrofrontofacial syndrome
5 papers · 34 measurements
autosomal recessive nonsyndromic hearing loss 102
5 papers · 33 measurements
transient infantile hypertriglyceridemia and hepatosteatosis
5 papers · 32 measurements
2 conditions, curators differ
5 papers · 30 measurements
no curated gene–disease record
5 papers · 30 measurements
complex neurodevelopmental disorder
5 papers · 28 measurements
4 conditions, curators differ
5 papers · 28 measurements
Parkinson disease
5 papers · 25 measurements
no curated gene–disease record
5 papers · 22 measurements
no curated gene–disease record
5 papers · 20 measurements
2 conditions, curators differ
5 papers · 20 measurements
tubular aggregate myopathy
5 papers · 20 measurements
no curated gene–disease record
5 papers · 15 measurements
tyrosine hydroxylase deficiency
5 papers · 14 measurements
metaphyseal anadysplasia 2
5 papers · 13 measurements
Pelizaeus-Merzbacher spectrum disorder
5 papers · 13 measurements
2 conditions, curators differ
5 papers · 13 measurements
no curated gene–disease record
5 papers · 10 measurements
SLC6A3-related dopamine transporter deficiency syndrome
5 papers · 10 measurements
no curated gene–disease record
5 papers · 8 measurements
obesity due to congenital leptin deficiency
5 papers · 8 measurements
no curated gene–disease record
5 papers · 8 measurements
no curated gene–disease record
5 papers · 5 measurements
The condition names and validity ratings come from GenCC, which aggregates ClinGen, Genomics England PanelApp, Orphanet and clinical laboratories. The rating is the strongest curated assertion for that gene — Definitive means the gene-disease link itself is settled, and says nothing about any individual variant. GenCC does not independently verify submissions, and none of this is a substitute for review by a genetics professional.
Some genes are listed with no condition name, on purpose. For 33 of them the top-rated curators name different conditions — SCN1A is the clear case, where Dravet syndrome, GEFS+ and epileptic encephalopathy are all rated Definitive, so printing one would be a lie by omission. Another 38 have no gene-disease record at all: they are mechanism genes we hold measurements on rather than genes that cause a named condition. We show inheritance patterns nowhere, because the aggregated records disagree about them too often to publish.
Two conventions that look like mistakes and are not. Entries appear as the study named them, so case follows the source: MECP2 (human) and Mecp2 (mouse) stay separate rather than folded together, because the distinction is real. And APP/PSEN1 names a double-transgenic model a paper actually studied, not a malformed symbol. The second number is measurements, which is why it is often far larger than the paper count.
What this is and is not
A list of inputs, not of answers
- Finding your gene here means we hold papers and measurements on it. It does not mean we have a conclusion about it, and it certainly does not mean we have a treatment. Depth varies enormously across this list.
- Not finding it does not mean the evidence is absent. It means our corpus has not been pointed there yet, or the papers we hold on it report no measurement we could extract. Those are different from the literature being empty.
- A measurement is not an answer. Most of what we extract is not yet usable by any model — the attrition is shown on our position statement, and we would rather you saw it.
Research aid only — not medical advice. Piper is a research and educational aid. It is not medical advice, not a diagnosis, and not a clinical determination. Its output is hypothesis-generating and may be incomplete, provisional, or wrong, including AI-generated errors. Always consult your own qualified healthcare professional before making any medical or treatment decision.
The material on this site is written with the help of AI and may contain mistakes. It describes the state of published knowledge rather than any individual, and every source it rests on is named so you can check it.