Overall analysis
What the collected corpus says, measured rather than asserted: publication volume over time, which body systems the literature focuses on, which genes are discussed together, and how confident each conclusion is. Every figure can be traced back to documents in the warehouse.
582 documents
3.8M words
9.3k evidence sentences
1.3k insights
Publications per year
by the publication date recorded by the source19922009
2026
peak: 2026
with 142
Which body systems the literature covers
documents mentioning each bucket, last 15 years
kidney and urinary tract
347
diabetes and metabolism
289
learning, speech and behaviour
189
liver and gallbladder
158
genital and Müllerian development
145
the heart
108
tumour risk
97
growth, gut and nutrition
85
skeleton and limbs
61
eyes, ears and hearing
55
Coverage reflects what has been published and what our sources index — it is not a clinical frequency.
Genes in the discussion
search
HNF1B
326
LHX1
66
HNF1A
56
HNF4A
48
GCK
41
TCF2
32
ACACA
29
PAX2
27
INS
23
PIGW
20
PDX1
20
ZNHIT3
16
UMOD
15
AATF
15
DDX52
15
NEUROD1
14
Only genes of the 17q12 recurrent deletion interval and closely related genes are tracked; unrelated genes mentioned in passing are ignored on purpose.
Care & research vocabulary
Surveillance
315
Counseling
234
Research
170
Therapy
147
Organisations mentioned
ClinGen 40NIH 29NCBI 26DGV 22DECIPHER 22Orphanet 22GeneReviews 21NORD 10Unique 8ISCA 5
Gene × body-system co-occurrence
how many documents discuss both — a statement about the literature, not about causation| Gene | Body system | Shared documents | |
|---|---|---|---|
HNF1B |
kidney and urinary tract | 273 | |
HNF1B |
diabetes and metabolism | 243 | |
HNF1B |
liver and gallbladder | 134 | |
HNF1B |
learning, speech and behaviour | 117 | |
HNF1B |
genital and Müllerian development | 104 | |
HNF1B |
growth, gut and nutrition | 74 | |
HNF1B |
the heart | 64 | |
HNF1B |
tumour risk | 59 | |
LHX1 |
kidney and urinary tract | 56 | |
LHX1 |
genital and Müllerian development | 44 | |
HNF1B |
skeleton and limbs | 40 | |
LHX1 |
diabetes and metabolism | 39 | |
HNF1B |
eyes, ears and hearing | 38 | |
LHX1 |
learning, speech and behaviour | 37 | |
LHX1 |
liver and gallbladder | 28 | |
LHX1 |
the heart | 25 | |
ACACA |
kidney and urinary tract | 24 | |
LHX1 |
skeleton and limbs | 22 | |
LHX1 |
growth, gut and nutrition | 19 | |
ACACA |
diabetes and metabolism | 19 | |
ACACA |
learning, speech and behaviour | 19 | |
PIGW |
kidney and urinary tract | 17 | |
ACACA |
liver and gallbladder | 17 | |
PIGW |
diabetes and metabolism | 16 | |
PIGW |
learning, speech and behaviour | 15 |
Evidence sentences by type
| management | 5306 | 416 docs |
| association | 2154 | 256 docs |
| frequency | 1466 | 282 docs |
| novelty | 380 | 163 docs |
| negation | 11 | 10 docs |
Insights by kind
| Phenotype expansion | 913 | 913 new |
| Frequency / statistic | 169 | 169 new |
| New publication | 114 | 114 new |
| Contradicting evidence | 81 | 81 new |
| Gene–trait link | 29 | 29 new |
| Source updated | 11 | 11 new |
| Clinical trial | 5 | 5 new |
| Clinical management | 4 | 4 new |
Framing of the corpus
| burden-focused | 305 | 52% |
| hopeful | 74 | 13% |
| neutral | 203 | 35% |
Counts of hopeful vs. burden-focused language. It describes tone of the sources, not the reality for any individual.
Newest documents
all| Title | Source | Published |
|---|---|---|
| Clinical and research tests for 6928 - Genetic Testing Regist... | institutional | - |
| Congenital anomalies of kidney and urinary tract: MedlinePlus... | web | - |
| Renal cysts and diabetes syndrome | wikipedia | - |
| LHX1 | wikipedia | - |
| 17q12 deletion syndrome: MedlinePlus Genetics | web | - |
| Maturity-onset diabetes of the young: MedlinePlus Genetics | web | - |
| FAQs – 17q12 Patient Registry | patient_org | - |
| Contact – 17q12 Patient Registry | patient_org | - |
| News – 17q12 Patient Registry | patient_org | - |
| How To Register – 17q12 Patient Registry | patient_org | - |
Documents that changed
all| Title | Source | Versions | Changed |
|---|---|---|---|
| A Case of Amyotrophic Lateral Sclerosis With Coexisting... | pubmed | 3 | today |
| Clinical characteristics and etiologies of hypomagnesem... | pubmed | 2 | today |
| Ten tips for ordering, interpreting, and communicating ... | pmc | 3 | today |
| A Simple Bioreactor-Based Method to Generate Kidney Org... | pubmed | 3 | today |
| 17q12 Recurrent Deletion Syndrome in Childhood | pmc | 3 | today |
| Atypical presentation of HNF1β gene mutation mimicking ... | pmc | 3 | today |
| Clinical and Genetic Significance of Chromosomal Microa... | pmc | 3 | today |
| Genetics of CAKUT | pmc | 3 | today |
| Chromosome 17q12 deletion, including HNF1B presenting w... | pubmed | 3 | today |
| 17q12 deletion syndrome presenting with chronic pancrea... | pubmed | 3 | today |
Source mix
documents per source and per evidence tier
pubmed
342
pmc
158
openalex
53
patient_org
13
clinicaltrials
5
web
5
wikipedia
4
institutional
1
local_files
1
peer_reviewed
554
community
13
reference
8
institutional
6
curated
1